Variants of human CLDN9 cause mild to profound hearing loss-Reference-Cited by-同舟云学术

Variants of human CLDN9 cause mild to profound hearing loss

Published:2021-08 Issue:10 Volume:42 Page:1321-1335
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ramzan Memoona¹²^ORCID,Philippe Christophe³⁴^ORCID,Belyantseva Inna A.²^ORCID,Nakano Yoko⁵⁶^ORCID,Fenollar‐Ferrer Cristina²⁷^ORCID,Tona Risa²^ORCID,Yousaf Rizwan²^ORCID,Basheer Rasheeda¹^ORCID,Imtiaz Ayesha²^ORCID,Faridi Rabia²^ORCID,Munir Zunaira¹^ORCID,Idrees Hafiza¹^ORCID,Salman Midhat¹^ORCID,Nambot Sophie⁴⁸^ORCID,Vitobello Antonio³⁴^ORCID,Kartti Souad⁹^ORCID,Zarrik Oumaima⁹^ORCID,Witmer P. Dane¹⁰¹¹^ORCID,Sobreria Nara¹¹^ORCID,Ibrahimi Azeddine⁹^ORCID,Banfi Botond⁵⁶¹²¹³^ORCID,Moutton Sebastien⁴⁸^ORCID,Friedman Thomas B.²^ORCID,Naz Sadaf¹^ORCID

Affiliation:

1. School of Biological Sciences University of the Punjab Quaid‐i‐Azam campus Lahore Pakistan

2. Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA

3. UF Innovation en Diagnostic Genomique des Maladies Rares CHU Dijon Bourgogne Dijon France

4. INSERM UMR 1231 GAD (Génétique des Anomalies du Développement) Université de Bourgogne Dijon France

5. Department of Anatomy and Cell Biology University of Iowa Iowa City Iowa USA

6. Inflammation Program University of Iowa Iowa City Iowa USA

7. Laboratory of Molecular & Cellular Neurobiology, National Institute of Mental Health National Institutes of Health Bethesda Maryland USA

8. Department of Medical Genetics, Reference Center for Developmental Anomalies Dijon University Hospital Dijon France

9. Medical Biotechnology Laboratory (MedBiotech), Bioinova Research Center, Rabat Medical & Pharmacy School Mohammed Vth University Rabat Morocco

10. McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University Baltimore Maryland USA

11. Johns Hopkins Genomics Johns Hopkins University Baltimore Maryland USA

12. Department of Otolaryngology‐Head and Neck Surgery University of Iowa Iowa City Iowa USA

13. Department of Internal Medicine University of Iowa Iowa City Iowa USA

Funder

National Institute on Deafness and Other Communication Disorders

Higher Education Commission, Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24260

Reference40 articles.

1. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

2. The tight junction protein ZO-1 and an interacting transcription factor regulate ErbB-2 expression

3. Mutations in CLDN14 are associated with different hearing thresholds

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

5. On the self-association potential of transmembrane tight junction proteins

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4. EpCAM proteolysis and release of complexed claudin-7 repair and maintain the tight junction barrier;Journal of Cell Biology;2022-11-15

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