PMC Articles for MedGen (Select 412541) - PMC

Select item 80516821.

Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells

Alix Trouillet, Katharine K. Miller, Shefin Sam George, Pei Wang, Noor-E-Seher Ali, Anthony Ricci, Nicolas Grillet

J Neurosci. 2021 Apr 14; 41(15): 3331–3343. doi: 10.1523/JNEUROSCI.0975-20.2021

PMCID:: PMC8051682

Select item 70494432.

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families

Xiaohui Bai, Chi Zhang, Fengguo Zhang, Yun Xiao, Yu Jin, Haibo Wang, Lei Xu

Biomed Res Int. 2020; 2020: 1685974. Published online 2020 Feb 18. doi: 10.1155/2020/1685974

Correction in:: Biomed Res Int. 2020; 2020: 9519415.

PMCID:: PMC7049443

Article PDF–1.1M

Select item 70456663.

A novel LOXHD1 variant in a Chinese couple with hearing loss

Chuan Zhang, Shengju Hao, Yali Liu, Bingbo Zhou, Furong Liu, Lei Zheng, Panpan Ma, Qing Liu, Xiaojuan Lin, Yousheng Yan, Qinghua Zhang

J Int Med Res. 2019 Dec; 47(12): 6082–6090. Published online 2019 Nov 10. doi: 10.1177/0300060519884197

PMCID:: PMC7045666

Article PDF–669K

Select item 68264704.

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Karuna Maekawa, Shin-ya Nishio, Satoko Abe, Shin-ichi Goto, Yohei Honkura, Satoshi Iwasaki, Yukihiko Kanda, Yumiko Kobayashi, Shin-ichiro Oka, Mayuri Okami, Chie Oshikawa, Naoko Sakuma, Hajime Sano, Masayuki Shirakura, Natsumi Uehara, Shin-ichi Usami

Genes (Basel) 2019 Oct; 10(10): 735. Published online 2019 Sep 23. doi: 10.3390/genes10100735

PMCID:: PMC6826470

Article PDF–6.3M

Select item 63730295.

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu

BMC Med Genet. 2019; 20: 30. Published online 2019 Feb 13. doi: 10.1186/s12881-019-0758-2

PMCID:: PMC6373029

Article PDF–882K

Select item 44418416.

Mutations in LOXHD1 gene cause various types and severities of hearing loss

Kentaro Mori, Hideaki Moteki, Yumiko Kobayashi, Hela Azaiez, Kevin T Booth, Shin-ya Nishio, Hiroaki Sato, Richard J H Smith, Shin-ichi Usami

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2015 May 23.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2015 May; 124(1 0): 135S–141S. Published online 2015 Mar 19. doi: 10.1177/0003489415574067

PMCID:: PMC4441841

Article PDF–506K

Select item 27715347.

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A. Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kuhn, Richard J.H. Smith, Ulrich Müller

Am J Hum Genet. 2009 Sep 11; 85(3): 328–337. doi: 10.1016/j.ajhg.2009.07.017

PMCID:: PMC2771534

Article PDF–1.5M

Select item 44647558.

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population

So Young Kim, Ah Reum Kim, Kyu Hee Han, Min Young Kim, Eun-Hee Jeon, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi

PLoS One. 2015; 10(6): e0125416. Published online 2015 Jun 10. doi: 10.1371/journal.pone.0125416

PMCID:: PMC4464755

Article PDF–909K

Select item 29175429.

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1 – 14q24.3 in large consanguineous kindred from Pakistan

Muhammad Ansar, Mohammad Amin ud Din, Muhammad Arshad, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Wasim Ahmad, Suzanne M Leal

Eur J Hum Genet. Author manuscript; available in PMC 2010 Aug 7.

Published in final edited form as: Eur J Hum Genet. 2003 Jan; 11(1): 77–80. doi: 10.1038/sj.ejhg.5200905

PMCID:: PMC2917542

Article PDF–635K

Select item 128517810.

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, Patrick L. M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke, Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armagan Incesulu, Hans-Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner-Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, Istvan Sziklai, Timea Toth, Philip M. Kelley, Edward S. Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne-Françoise Roux, Michel Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Gronskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina-Granade, Nathalie Pallares-Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla J. Nishimura, Richard J. H. Smith, Guy Van Camp

Am J Hum Genet. 2005 Dec; 77(6): 945–957. Published online 2005 Oct 19. doi: 10.1086/497996

PMCID:: PMC1285178

Article PDF–832K

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