Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma-Reference-Cited by-同舟云学术

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Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma

Published:2015-11-30 Issue:1 Volume:80 Page:11-19
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Pandey Nishtha¹²,Xavier Dennis F.³,Chatterjee Arunima¹,Mani Ram-Shankar¹,Hiremagalore Ravi⁴,Tharakan Ajith⁵,Rajashekhar B.³,Anand Anuranjan¹

Affiliation:

1. Molecular Biology and Genetics Unit; Jawaharlal Nehru Centre for Advanced Scientific Research; Bangalore India

2. Centre for Human Genetics; Bangalore India

3. Department of Speech and Hearing, School of Allied Health Sciences; Manipal University; Manipal India

4. Manipal Hospital; Bangalore India

5. Department of Dermatology; Sree Narayana Institute of Medical Sciences; Cochin India

Funder

Department of Biotechnology, New Delhi

JNCASR, Bangalore

CSIR, New Delhi

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12141/fullpdf

Reference39 articles.

1. Connexins 26 and 30 are coassembled to form gap junctions in the cochlea of mice;Ahmad;Biochem Biophys Res Commun,2003

2. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness;Ahmad;Proc Natl Acad Sci USA,2007

3. A novel GJB2 mutation p.Asn54His in a patient with palmoplantarkeratoderma, sensorineural hearing loss and knuckle pads;Akiyama;J Invest Dermatol,2007

4. ConSeq: The identification of functionally and structurally important residues in protein sequences;Berezin;Bioinformatics,2004

5. Hearing is normal without connexin30;Boulay;J Neurosci,2013

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43;International Journal of Molecular Sciences;2023-06-19

2. Connexin Mutations and Hereditary Diseases;International Journal of Molecular Sciences;2022-04-12

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