Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family-Reference-Cited by-同舟云学术

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Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family

Published:2018-10 Issue: Volume:113 Page:88-93
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Gao Song,Jiang Yi,Wang Guojian,Yuan Yongyi,Huang Shasha^ORCID,Gao Xue,Li Xiaohong,Zhang Dejun,Wu Jian,Ji Xiaowen,Deng Tao,Wang Ligang,Kang Dongyang,Dai Pu

Funder

Reproductive Health and Serious Birth Defect Prevention Research Project

National Key Research Project

National Natural Science Foundation of China

Fujian Provincial Medical Innovation Project

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Newborn hearing screening–a silent revolution;Morton;N. Engl. J. Med.,2006

2. Hereditary deafness and phenotyping in humans;Bitner-Glindzicz;Br. Med. Bull.,2002

3. Sex-linked deafness;Petersen;Clin. Genet.,2008

4. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4;de Kok;Science,1995

5. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2;Liu;Am. J. Hum. Genet.,2010

Cited by 12 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. Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population;Orphanet Journal of Rare Diseases;2024-09-13

2. Differentiation and functioning of the lateral line organ in zebrafish require Smpx activity;Scientific Reports;2024-04-03

3. Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy;Neuromuscular Disorders;2023-10

4. Derivation of iPSC line UMi029-A bearing a hearing-loss associated variant in the SMPX gene;Stem Cell Research;2021-07

5. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions;Acta Neuropathologica;2021-05-11

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