PMC Articles for MedGen (Select 419894) - PMC

Select item 71408431.

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss

Shin-ichiro Oka, Timothy F. Day, Shin-ya Nishio, Hideaki Moteki, Maiko Miyagawa, Shinya Morita, Shuji Izumi, Tetsuo Ikezono, Satoko Abe, Jun Nakayama, Misako Hyogo, Nobuhiko Okamoto, Natsumi Uehara, Chie Oshikawa, Shin-ichiro Kitajiri, Shin-ichi Usami

Genes (Basel) 2020 Mar; 11(3): 273. Published online 2020 Mar 4. doi: 10.3390/genes11030273

PMCID:: PMC7140843

Article PDF–1.8M

Select item 50743682.

Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding

Susan D. Arden, David A. Tumbarello, Tariq Butt, John Kendrick-Jones, Folma Buss

Biochem J. 2016 Oct 1; 473(19): 3307–3319. Prepublished online 2016 Jul 29. Published online 2016 Sep 27. doi: 10.1042/BCJ20160571

PMCID:: PMC5074368

Article PDF–875K

Select item 11802853.

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Zubair M. Ahmed, Robert J. Morell, Saima Riazuddin, Andrea Gropman, Shahzad Shaukat, Mussaber M. Ahmad, Saidi A. Mohiddin, Lameh Fananapazir, Rafael C. Caruso, Tayyab Husnain, Shaheen N. Khan, Sheikh Riazuddin, Andrew J. Griffith, Thomas B. Friedman, Edward R. Wilcox

Am J Hum Genet. 2003 May; 72(5): 1315–1322. Published online 2003 Apr 8. doi: 10.1086/375122

PMCID:: PMC1180285

Article PDF–463K

Select item 83913424.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Article PDF–1.2M

Select item 38956285.

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Simone Rost, Elisa Bach, Cordula Neuner, Indrajit Nanda, Sandra Dysek, Reginald E Bittner, Alexander Keller, Oliver Bartsch, Robert Mlynski, Thomas Haaf, Clemens R Müller, Erdmute Kunstmann

Eur J Hum Genet. 2014 Feb; 22(2): 208–215. Published online 2013 May 29. doi: 10.1038/ejhg.2013.108

PMCID:: PMC3895628

Article PDF–2.8M

Select item 13780456.

A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.

A A Salam, F M Häfner, T E Linder, T Spillmann, A A Schinzel, S M Leal

Am J Hum Genet. 2000 Jun; 66(6): 1984–1988. Published online 2000 Apr 24. doi: 10.1086/302931

PMCID:: PMC1378045

Summary PDF–193K

Select item 12354927.

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, Maria Lourdes Arbones, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Estivill, Karen B. Avraham, Paolo Gasparini

Am J Hum Genet. 2001 Sep; 69(3): 635–640. Published online 2001 Jul 20. doi: 10.1086/323156

PMCID:: PMC1235492

Article PDF–656K

Select item 2623858.

The DFNA15 Deafness Mutation Affects POU4F3 Protein Stability, Localization, and Transcriptional Activity

Sigal Weiss, Irit Gottfried, Itay Mayrose, Suvarna L. Khare, Mengqing Xiang, Sally J. Dawson, Karen B. Avraham

Mol Cell Biol. 2003 Nov; 23(22): 7957–7964. doi: 10.1128/MCB.23.22.7957-7964.2003

PMCID:: PMC262385

Article PDF–498K

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