A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss-Reference-Cited by-同舟云学术

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A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss

Published:2014-01 Issue:2 Volume:534 Page:236-239
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Faletra Flavio,Girotto Giorgia,D'Adamo Adamo Pio,Vozzi Diego,Morgan Anna,Gasparini Paolo

Funder

Italian Ministry of Health

Telethon

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference24 articles.

1. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat. Genet.,2002

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

3. A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter;Blanton;J. Med. Genet.,2002

4. P2 receptor-stimulation influences axonal outgrowth in the developing hippocampus in vitro;Heine;Neuroscience,2006

5. Expression of the P2X(2) receptor subunit of the ATP-gated ion channel in the cochlea: implications for sound transduction and auditory neurotransmission;Housley;J. Neurosci.,1999

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1. Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene;American Journal of Medical Genetics Part A;2024-09-11

2. Engineering a human P2X2 receptor with altered ligand selectivity in yeast;Journal of Biological Chemistry;2024-05

3. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29

4. Purinergic signaling in the peripheral vestibular system;Purinergic Signalling;2022-03-28

5. Regulation of P2X1 receptors by modulators of the cAMP effectors PKA and EPAC;Proceedings of the National Academy of Sciences;2021-09-10

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