(Q24317151)

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Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

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Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment (English)

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congenital disorder

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PDZ domain containing 7

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GOA release 2020-03-11

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15

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2

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Eberhard Schneider

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Eberhard Schneider

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author name string

Angelika Daser

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Gabriele Frey-Mahn

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Vera Beyer

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Ruxandra Farcas

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Brigitte Schneider-Rätzke

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Nicolai Kohlschmidt

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Bärbel Grossmann

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Katharina Bauss

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Ulrike Napiontek

11

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Annerose Keilmann

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Oliver Bartsch

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Ulrich Zechner

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Thomas Haaf

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language of work or name

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publication date

15 February 2009

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Human Molecular Genetics

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18

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655-66

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4

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Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.

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7 January 2021

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Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Homozygous Robertsonian translocations in a fetus with 44 chromosomes

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Sensorineural hearing loss in children.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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The molecular genetics of Usher syndrome

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Interchromosomal associations between alternatively expressed loci

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Spatial proximity of translocation-prone gene loci in human lymphomas

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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The Fanconi anaemia/BRCA pathway

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Dynamic genome architecture in the nuclear space: regulation of gene expression in three dimensions

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Genetic screening for hearing loss.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Newborn hearing screening--a silent revolution

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Long-range control of gene expression: emerging mechanisms and disruption in disease

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Interactions in the network of Usher syndrome type 1 proteins

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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Usher syndrome: molecular links of pathogenesis, proteins and pathways

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Screening and prevention of hearing loss in children

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Translocation t(13;14) in nine generations with a case of translocation homozygosity

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

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The modular nature of genetic diseases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Proximity of chromosomal loci that participate in radiation-induced rearrangements in human cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Homozygosity for a Robertsonian translocation (13q14q) in three offspring of heterozygous parents

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN395

7 January 2021

based on heuristic

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Identifiers

10.1093/HMG/DDN395

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