MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss-Reference-Cited by-同舟云学术

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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Published:2018-07 Issue:6-7 Volume:137 Page:479-486
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bademci Guney,Abad Clemer,Incesulu Armagan,Rad Abolfazl,Alper Ozgul,Kolb Susanne M.,Cengiz Filiz B.,Diaz-Horta Oscar,Silan Fatma,Mihci Ercan,Ocak Emre,Najafi Maryam,Maroofian Reza,Yilmaz Elanur,Nur Banu G.,Duman Duygu,Guo Shengru,Sant David W.,Wang Gaofeng,Monje Paula V.,Haaf Thomas,Blanton Susan H.,Vona Barbara,Walz Katherina,Tekin Mustafa

Funder

National Institute on Deafness and Other Communication Disorders

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-018-1901-4/fulltext.html

Reference30 articles.

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2. Anders S, Pyl PT, Huber W (2015) HTSeq–a Python framework to work with high-throughput sequencing data. Bioinformatics 31:166–169. https://doi.org/10.1093/bioinformatics/btu638

3. Bacallao K, Monje PV (2015) Requirement of cAMP signaling for Schwann cell differentiation restricts the onset of myelination. PLoS One 10:e0116948. https://doi.org/10.1371/journal.pone.0116948

4. Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la L Arenas-Sordo, Dominguez-Aburto M, Hernandez-Zamora J, Montenegro E, Paredes P, Moreta R, Vinueza G, Villegas R, Mendoza-Benitez F, Guo S, Bozan S, Tos N, Incesulu T, Sennaroglu A, Blanton G, Ozturkmen-Akay SH, Yildirim-Baylan H, Tekin M M (2016) Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med 18:364–371. https://doi.org/10.1038/gim.2015.89

5. Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L, International Mouse Phenotyping C, Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM (2017) A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nat Commun 8:886. https://doi.org/10.1038/s41467-017-00595-4

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1. Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness;The American Journal of Human Genetics;2024-09

2. Identification of novel gene signature predicting lymph node metastasis in papillary thyroid cancer via bioinformatics analysis and in vitro validation;2024-05-30

3. MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population;BMC Medical Genomics;2024-01-23

4. Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111;American Journal of Medical Genetics Part A;2024-01-10

5. MPZL2—A common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population;2023-08-31

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