Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots (Q50354937)

6 March 2018

title

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots (English)

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author

David Baux

1

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Dominique Bonneau

10

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Mireille Claustres

object named as

Mireille Claustres

12

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Catherine Blanchet

2

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Christian Hamel

3

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Isabelle Meunier

4

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Lise Larrieu

5

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Valérie Faugère

6

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Christel Vaché

7

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Pierangela Castorina

8

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Bernard Puech

9

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Sue Malcolm

11

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Anne-Françoise Roux

13

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publication date

15 July 2014

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published in

Human Mutation

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volume

35

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issue

10

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page(s)

1179-1186

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Audiological findings in 100 USH2 patients

cites work

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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

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Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

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

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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

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Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

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

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Predicting the functional impact of protein mutations: application to cancer genomics

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Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene

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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

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Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

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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

21 January 2018

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Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

21 January 2018

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Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

21 January 2018

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Performance of mutation pathogenicity prediction methods on missense variants

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Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

21 January 2018

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7 January 2021

Non-USH2A mutations in USH2 patients

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7 January 2021

Four-Year Follow-up of Diagnostic Service in USH1 Patients

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7 January 2021

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22608

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6 March 2018

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6 March 2018