(Q34137935)

31 July 2017

title

Mutations in connexin genes and disease (English)

1 reference

31 July 2017

1

Anna Pfenniger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20840374

13 July 2024

author name string

Annelise Wohlwend

2

1 reference

31 July 2017

Brenda R. Kwak

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20840374

13 July 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=20840374

13 July 2024

publication date

14 September 2010

1 reference

full work available at URL

31 July 2017

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1365-2362.2010.02378.x

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20840374

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2362.2010.02378.x

13 July 2024

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2362.2010.02378.x

13 July 2024

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

European Journal of Clinical Investigation

13 July 2024

published in

1 reference

31 July 2017

volume

41

1 reference

31 July 2017

issue

1

1 reference

31 July 2017

page(s)

103-116

1 reference

Plasma membrane channels formed by connexins: their regulation and functions.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02378.X

Oculodentodigital dysplasia. Four new reports and a literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02378.X

Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02378.X

Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02378.X

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.2010.02378.X

Gap junctions and the connexin protein family

21 January 2018

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Gap junctions: structure and function (Review).

13 July 2024

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https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Pathways and control of connexin oligomerization.

13 July 2024

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1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Beyond the gap: functions of unpaired connexon channels

13 July 2024

6

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Voltage gating and permeation in a gap junction hemichannel

13 July 2024

7

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

An intact connexin N-terminus is required for function but not gap junction formation

13 July 2024

8

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Mutational analysis of gap junction formation

13 July 2024

9

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Intramolecular interactions mediate pH regulation of connexin43 channels

13 July 2024

10

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

The effects of connexin phosphorylation on gap junctional communication

13 July 2024

11

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin mutations in X-linked Charcot-Marie-Tooth disease

13 July 2024

12

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

13 July 2024

13

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

13 July 2024

15

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

13 July 2024

16

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

13 July 2024

17

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

13 July 2024

18

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

13 July 2024

19

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

13 July 2024

20

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia

13 July 2024

21

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features

13 July 2024

23

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene

13 July 2024

24

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Novel mutations in GJA1 cause oculodentodigital syndrome

13 July 2024

25

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

13 July 2024

26

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

13 July 2024

27

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome

13 July 2024

28

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

13 July 2024

29

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43

13 July 2024

30

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

13 July 2024

31

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

13 July 2024

32

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

13 July 2024

33

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

13 July 2024

34

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

13 July 2024

35

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels

13 July 2024

36

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.

13 July 2024

37

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia.

13 July 2024

38

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

13 July 2024

39

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Lack of Evidence for Connexin 43 Gene Mutations in Human Autosomal Recessive Lateralization Defects

13 July 2024

42

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects

13 July 2024

44

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

13 July 2024

45

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development

13 July 2024

46

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin37 protects against atherosclerosis by regulating monocyte adhesion

13 July 2024

47

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Functional differences between human Cx37 polymorphic hemichannels

13 July 2024

48

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: the second extracellular domain is a determinant of compatibility between connexins

13 July 2024

49

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins

13 July 2024

50

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin46 mutations in autosomal dominant congenital cataract

13 July 2024

51

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

An aberrant sequence in a connexin46 mutant underlies congenital cataracts.

13 July 2024

54

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50

13 July 2024

55

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A mutant connexin50 with enhanced hemichannel function leads to cell death

13 July 2024

56

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner

13 July 2024

57

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium

13 July 2024

58

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

13 July 2024

59

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Loss of function and impaired degradation of a cataract-associated mutant connexin50.

13 July 2024

60

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract

13 July 2024

61

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Lens gap junctions in growth, differentiation, and homeostasis.

13 July 2024

62

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

13 July 2024

63

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

13 July 2024

64

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

13 July 2024

65

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Characteristics of gap junction channels in Schwann cells from wild-type and connexin-null mice

13 July 2024

66

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

13 July 2024

67

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

13 July 2024

68

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32

13 July 2024

69

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Severe neuropathy with leaky connexin32 hemichannels.

13 July 2024

70

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease

13 July 2024

71

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

13 July 2024

72

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

13 July 2024

73

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

13 July 2024

74

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

13 July 2024

75

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Non-syndromic, autosomal-recessive deafness

13 July 2024

76

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

13 July 2024

77

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

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

13 July 2024

78

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

13 July 2024

79

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

13 July 2024

80

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

13 July 2024

81

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Life cycle of connexins in health and disease

13 July 2024

82

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Pathogenetic role of the deafness-related M34T mutation of Cx26.

13 July 2024

83

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

13 July 2024

84

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin disorders of the skin

13 July 2024

85

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

13 July 2024

86

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

13 July 2024

88

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron

13 July 2024

89

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis

13 July 2024

91

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes.

13 July 2024

92

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin and pannexin mediated cell-cell communication.

13 July 2024

93

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

The effects of a mutant connexin 26 on epidermal differentiation

13 July 2024

94

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

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

13 July 2024

95

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

13 July 2024

96

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

EKV mutant connexin 31 associated cell death is mediated by ER stress

13 July 2024

97

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

CCN3 (NOV) interacts with connexin43 in C6 glioma cells: possible mechanism of connexin-mediated growth suppression

13 July 2024

98

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Wnt-1 regulation of connexin43 in cardiac myocytes

13 July 2024

99

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Gene expression alterations in connexin null mice extend beyond the gap junction.

13 July 2024

100

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Molecular role of Cx37 in advanced atherosclerosis: a micro-array study

13 July 2024

101

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

13 July 2024

102

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells

13 July 2024

103

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Altered pattern of vascular connexin expression in atherosclerotic plaques

13 July 2024

104

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Endothelial-specific deletion of connexin40 promotes atherosclerosis by increasing CD73-dependent leukocyte adhesion

13 July 2024

105

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Reduced connexin43 expression inhibits atherosclerotic lesion formation in low-density lipoprotein receptor-deficient mice

13 July 2024

106

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Shear stress and cyclic circumferential stretch, but not pressure, alter connexin43 expression in endothelial cells

13 July 2024

107

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

Tumour necrosis factor alpha alters the expression of connexin43, connexin40, and connexin37 in human umbilical vein endothelial cells

13 July 2024

108

1 reference

https://api.crossref.org/works/10.1111/J.1365-2362.2010.02378.X

13 July 2024

Identifiers

1 reference

31 July 2017

1 reference