(Q35550640)

8 August 2017

1 reference

title

Human nonsyndromic sensorineural deafness (English)

1 reference

8 August 2017

Human Nonsyndromic Sensorineural Deafness (English)

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

18 March 2024

1

Thomas B Friedman

1 reference

8 August 2017

Andrew J. Griffith

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14527306

18 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14527306

18 March 2024

publication date

1 January 2003

1 reference

full work available at URL

8 August 2017

https://www.annualreviews.org/doi/pdf/10.1146/annurev.genom.4.070802.110347

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Annual Review of Genomics and Human Genetics

18 March 2024

published in

1 reference

8 August 2017

4

1 reference

8 August 2017

341-402

1 reference

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

8 August 2017

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/citations/10.1126/SCIENCE.280.5360.69

Myosin VI is an actin-based motor that moves backwards

1 reference

COCI

https://opencitations.net/index/coci/api/v1/citations/10.1038/46835

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

15 July 2023

1

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues

18 March 2024

2

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Prevalent connexin 26 gene (GJB2) mutations in Japanese

18 March 2024

4

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

18 March 2024

5

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families

18 March 2024

6

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mouse models for human deafness: current tools for new fashions

18 March 2024

7

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations of MYO6 are associated with recessive deafness, DFNB37

18 March 2024

8

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

18 March 2024

9

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

18 March 2024

10

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

18 March 2024

11

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A compendium of mouse knockouts with inner ear defects.

18 March 2024

12

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

18 March 2024

13

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

18 March 2024

15

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

18 March 2024

DFNA15.

16

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

18 March 2024

17

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

18 March 2024

18

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Beyond Mendel: an evolving view of human genetic disease transmission

18 March 2024

20

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes

18 March 2024

21

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

18 March 2024

22

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2.

18 March 2024

23

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

18 March 2024

25

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

18 March 2024

26

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

18 March 2024

27

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A millennial myosin census

18 March 2024

28

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Occurrence of episodic vertigo and hearing loss in families.

18 March 2024

29

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Hair cells in the inner ear of the pirouette and shaker 2 mutant mice

18 March 2024

30

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

18 March 2024

31

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

18 March 2024

32

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The Jervell and Lange-Nielsen syndrome

18 March 2024

33

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

18 March 2024

34

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

18 March 2024

35

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

18 March 2024

36

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

18 March 2024

37

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

18 March 2024

38

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

18 March 2024

40

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

EYA4, a novel vertebrate gene related to Drosophila eyes absent

18 March 2024

41

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

18 March 2024

42

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

18 March 2024

43

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The factor of heredity in labyrinthine deafness and paroxysmal vertigo; Ménière's syndrome.

18 March 2024

44

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK

18 March 2024

45

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connections with connexins: the molecular basis of direct intercellular signaling

18 March 2024

46

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin VI, a new force in clathrin mediated endocytosis

18 March 2024

47

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Candidate locus for a nuclear modifier gene for maternally inherited deafness

18 March 2024

48

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

18 March 2024

49

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

18 March 2024

50

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

18 March 2024

51

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Patterning of the mammalian cochlea

18 March 2024

52

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

18 March 2024

53

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Long-range chromatin regulatory interactions in vivo

18 March 2024

54

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Role of tight junctions in establishing and maintaining cell polarity.

18 March 2024

55

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

18 March 2024

56

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

18 March 2024

57

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

18 March 2024

58

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

18 March 2024

59

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

18 March 2024

60

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

18 March 2024

61

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

18 March 2024

62

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

18 March 2024

63

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin VI: roles for a minus end-directed actin motor in cells

18 March 2024

64

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Usher's syndrome, temporal bone pathology

18 March 2024

65

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The ins and outs of X-linked deafness type 3.

18 March 2024

66

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

18 March 2024

67

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Prestin, a new type of motor protein

18 March 2024

69

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

18 March 2024

70

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

18 March 2024

71

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

18 March 2024

72

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

18 March 2024

73

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter

18 March 2024

74

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Calcium imaging of single stereocilia in hair cells: localization of transduction channels at both ends of tip links

18 March 2024

75

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

18 March 2024

76

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

18 March 2024

77

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

18 March 2024

79

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

18 March 2024

Dynein at the cortex

80

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Adaptation in hair cells.

18 March 2024

81

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development

18 March 2024

82

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin-26 mutations in sporadic and inherited sensorineural deafness

18 March 2024

83

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

18 March 2024

84

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

18 March 2024

85

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

18 March 2024

86

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

18 March 2024

87

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations

18 March 2024

88

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mitochondrial deafness mutations reviewed

18 March 2024

90

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

18 March 2024

91

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

18 March 2024

92

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness

18 March 2024

93

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Maternally inherited nonsyndromic hearing loss.

18 March 2024

94

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

18 March 2024

95

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

18 March 2024

96

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Kinematic analysis of shear displacement as a means for operating mechanotransduction channels in the contact region between adjacent stereocilia of mammalian cochlear hair cells.

18 March 2024

97

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Manner of interaction of heterogeneous claudin species within and between tight junction strands

18 March 2024

98

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice

18 March 2024

99

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Localization of myosin-Ibeta near both ends of tip links in frog saccular hair cells

18 March 2024

100

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A type VII myosin encoded by the mouse deafness gene shaker-1

18 March 2024

102

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin-VIIa and transduction channel tension.

18 March 2024

103

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin and adaptation by hair cells

18 March 2024

104

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

MAGUK proteins: structure and role in the tight junction

18 March 2024

105

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexins, connexons, and intercellular communication

18 March 2024

106

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

18 March 2024

108

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Genetic analysis of the connexin-26 M34T variant

18 March 2024

109

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

18 March 2024

110

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome

18 March 2024

112

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Developmental and cellular expression pattern of epithelial sodium channel alpha, beta and gamma subunits in the inner ear of the rat.

18 March 2024

113

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

18 March 2024

114

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

18 March 2024

115

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Cell adhesion: the molecular basis of tissue architecture and morphogenesis

18 March 2024

116

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Putative immunolocalization of the mechanoelectrical transduction channels in mammalian cochlear hair cells

18 March 2024

117

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Molecular basis of mechanotransduction in living cells.

18 March 2024

118

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mammalian homologues of the Drosophila eye specification genes

18 March 2024

119

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Unconventional myosins in inner-ear sensory epithelia

18 March 2024

120

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

18 March 2024

121

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

18 March 2024

122

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A chemical-genetic strategy implicates myosin-1c in adaptation by hair cells.

18 March 2024

123

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The core of the motor domain determines the direction of myosin movement

18 March 2024

124

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

18 March 2024

125

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

18 March 2024

126

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

18 March 2024

127

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein.

18 March 2024

128

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin IXb is a single-headed minus-end-directed processive motor

18 March 2024

129

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

18 March 2024

130

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation.

18 March 2024

131

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss

18 March 2024

132

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

18 March 2024

133

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

18 March 2024

134

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Localization of the hair cell's transduction channels at the hair bundle's top by iontophoretic application of a channel blocker

18 March 2024

135

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice

18 March 2024

136

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Temporal bone histopathology in connexin 26-related hearing loss

18 March 2024

137

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

High-resolution structure of hair-cell tip links

18 March 2024

138

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

18 March 2024

139

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

18 March 2024

140

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

18 March 2024

141

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

From cadherins to catenins: cytoplasmic protein interactions and regulation of cell adhesion

18 March 2024

142

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

18 March 2024

143

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal dominant sensorineural hearing loss. Further temporal bone findings

18 March 2024

144

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds

18 March 2024

145

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.

18 March 2024

146

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

18 March 2024

147

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

18 March 2024

148

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Position effect in human genetic disease

18 March 2024

149

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Expression and phylogeny of claudins in vertebrate primordia

18 March 2024

150

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The Journal of Clinical Endocrinology and Metabolism

18 March 2024

151

84

336

Kopp P

1999

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2

18 March 2024

152

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations

18 March 2024

153

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

18 March 2024

154

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

18 March 2024

155

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

18 March 2024

157

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis

18 March 2024

158

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

18 March 2024

159

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

18 March 2024

160

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Further characterization of the DFNA1 audiovestibular phenotype.

18 March 2024

161

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration

18 March 2024

162

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in GJB6 cause hidrotic ectodermal dysplasia

18 March 2024

163

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system

18 March 2024

164

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

18 March 2024

165

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The gene for an inherited form of deafness maps to chromosome 5q31

18 March 2024

167

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

18 March 2024

168

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

18 March 2024

169

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

18 March 2024

170

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A mutation in PDS causes non-syndromic recessive deafness

18 March 2024

171

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2

18 March 2024

172

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

18 March 2024

173

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier

18 March 2024

175

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

18 March 2024

176

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Thioredoxin fold as homodimerization module in the putative chaperone ERp29: NMR structures of the domains and experimental model of the 51 kDa dimer

18 March 2024

177

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Development of the tectorial membrane.

18 March 2024

178

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

18 March 2024

180

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

18 March 2024

181

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

18 March 2024

182

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

18 March 2024

183

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors

18 March 2024

184

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

18 March 2024

185

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

18 March 2024

186

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Quantification of TECTA and DFNA5 expression in the developing mouse cochlea

18 March 2024

187

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Ocular findings in children with congenital sensorineural hearing loss

18 March 2024

188

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

18 March 2024

189

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

18 March 2024

190

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

18 March 2024

191

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin 26 Gene Mutations in Congenitally Deaf Children

18 March 2024

192

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

18 March 2024

193

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

18 March 2024

194

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation analysis of the mouse myosin VIIA deafness gene

18 March 2024

196

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

18 March 2024

197

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

18 March 2024

198

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Unconventional myosins in cell movement, membrane traffic, and signal transduction

18 March 2024

199

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

18 March 2024

Selection for deafness?

201

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Evidence for opening of hair-cell transducer channels after tip-link loss.

18 March 2024

202

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

18 March 2024

203

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness.

18 March 2024

204

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

18 March 2024

205

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6

18 March 2024

206

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

18 March 2024

207

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

18 March 2024

208

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

18 March 2024

209

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Association of congenital deafness with goitre; the nature of the thyroid defect.

18 March 2024

210

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

18 March 2024

211

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Molecular architecture of adherens junctions

18 March 2024

212

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Relation between choice of partner and high frequency of connexin-26 deafness

18 March 2024

213

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A transmembrane tight junction protein selectively expressed on endothelial cells and platelets

18 March 2024

214

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

18 March 2024

215

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

18 March 2024

216

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification of myosin III as a protein kinase

18 March 2024

217

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members

18 March 2024

218

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.

18 March 2024

219

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

18 March 2024

220

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

18 March 2024

221

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin26 mutations associated with nonsyndromic hearing loss.

18 March 2024

222

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

18 March 2024

223

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28

18 March 2024

224

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Molecular genetics of hearing loss

18 March 2024

226

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10

18 March 2024

227

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Radiological malformations of the ear in Pendred syndrome.

18 March 2024

228

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The virtuoso of versatility: POU proteins that flex to fit

18 March 2024

229

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear

18 March 2024

230

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

On tight-junction structure

18 March 2024

232

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.

18 March 2024

233

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

18 March 2024

234

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

18 March 2024

235

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

18 March 2024

236

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

18 March 2024

237

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

18 March 2024

239

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells

18 March 2024

240

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

18 March 2024

241

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

18 March 2024

242

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

18 March 2024

243

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9

18 March 2024

244

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome

18 March 2024

246

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

18 March 2024

248

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Effect of absence of cochlear outer hair cells on behavioural auditory threshold

18 March 2024

249

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

18 March 2024

250

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Rapid renewal of auditory hair bundles

18 March 2024

251

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin mutations and hearing loss.

18 March 2024

254

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

18 March 2024

255

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The Pendred syndrome gene encodes a chloride-iodide transport protein

18 March 2024

256

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

18 March 2024

257

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells

18 March 2024

258

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Role of myosin VI in the differentiation of cochlear hair cells

18 March 2024

259

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

18 March 2024

261

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The extent of adaptation in bullfrog saccular hair cells.

18 March 2024

262

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

18 March 2024

263

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Targeted disruption of otog results in deafness and severe imbalance

18 March 2024

264

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes.

18 March 2024

265

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

18 March 2024

266

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex

18 March 2024

267

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

18 March 2024

268

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Evidence for a medial K+ recycling pathway from inner hair cells.

18 March 2024

269

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Varitint-waddler: a double whammy for hearing.

18 March 2024

271

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Strial dysfunction in mice with cochleo-saccular abnormalities

18 March 2024

272

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A genetic approach to understanding auditory function

18 March 2024

274

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin Ibeta is located at tip link anchors in vestibular hair bundles.

18 March 2024

275

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Recent insights into regeneration of auditory and vestibular hair cells

18 March 2024

276

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

18 March 2024

277

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The hair cell's transduction channel

18 March 2024

278

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

18 March 2024

279

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The POU domain is a bipartite DNA-binding structure

18 March 2024

280

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

18 March 2024

281

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The gating mechanism of the large mechanosensitive channel MscL

18 March 2024

282

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Structural and functional diversity of cadherin superfamily: are new members of cadherin superfamily involved in signal transduction pathway?

18 March 2024

283

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Auditory dysfunction in Stickler syndrome

18 March 2024

284

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice.

18 March 2024

285

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

18 March 2024

286

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene

18 March 2024

287

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Elastomeric proteins: biological roles, structures and mechanisms

18 March 2024

288

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

18 March 2024

289

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Collagen of accessory structures of organ of Corti

18 March 2024

290

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas.

18 March 2024

291

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Myosin superfamily evolutionary history

18 March 2024

292

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Pores in the wall: claudins constitute tight junction strands containing aqueous pores

18 March 2024

294

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Claudin-based barrier in simple and stratified cellular sheets

18 March 2024

295

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Sensorineural hearing loss associated with the mitochondrial mutations

18 March 2024

296

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

18 March 2024

297

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

18 March 2024

298

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

18 March 2024

299

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Deafness linked to DFNA2: one locus but how many genes?

18 March 2024

301

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Two frequent missense mutations in Pendred syndrome

18 March 2024

302

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

18 March 2024

303

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

18 March 2024

304

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

18 March 2024

306

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

18 March 2024

307

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

18 March 2024

308

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

18 March 2024

309

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

18 March 2024

310

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132

18 March 2024

311

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

18 March 2024

312

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

18 March 2024

313

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

18 March 2024

314

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

18 March 2024

315

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

18 March 2024

316

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro

18 March 2024

317

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

18 March 2024

318

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

18 March 2024

319

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

18 March 2024

320

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Defective myosin VIIA gene responsible for Usher syndrome type 1B

18 March 2024

321

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

18 March 2024

322

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Connexin mutations in deafness.

18 March 2024

324

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

18 March 2024

325

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

18 March 2024

326

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

18 March 2024

328

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia

18 March 2024

330

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

18 March 2024

331

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

18 March 2024

332

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

18 March 2024

333

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Tight junction, a platform for trafficking and signaling protein complexes

18 March 2024

334

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

From DFNB2 to Usher syndrome: variable expressivity of the same disease.

18 March 2024

335

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

18 March 2024

336

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9

18 March 2024

337

1 reference

https://api.crossref.org/works/10.1146/ANNUREV.GENOM.4.070802.110347

18 March 2024

Identifiers

1 reference

8 August 2017

1 reference