PMC Articles for MedGen (Select 335521) - PMC

Select item 1242681.

From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

Tom Walsh, Vanessa Walsh, Sarah Vreugde, Ronna Hertzano, Hashem Shahin, Smadar Haika, Ming K. Lee, Moien Kanaan, Mary-Claire King, Karen B. Avraham

Proc Natl Acad Sci U S A. 2002 May 28; 99(11): 7518–7523. doi: 10.1073/pnas.102091699

PMCID:: PMC124268

Abstract Article PDF–608K

Select item 94508652.

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region

Luciana Santos Serrão de Castro, Anderson Nonato do Rosario Marinho, Elzemar Martins Ribeiro Rodrigues, Giorgio Christie Tavares Marques, Tarcísio André Amorim de Carvalho, Luiz Carlos Santana da Silva, Sidney Emanuel Batista dos Santos

Braz J Otorhinolaryngol. 2013 Jan-Feb; 79(1): 95–99. Published online 2015 Oct 14. doi: 10.5935/1808-8694.20130016

PMCID:: PMC9450865

Abstract Article PDF–179K

Select item 47383863.

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

Andrea Lelli, Vincent Michel, Jacques Boutet de Monvel, Matteo Cortese, Montserrat Bosch-Grau, Asadollah Aghaie, Isabelle Perfettini, Typhaine Dupont, Paul Avan, Aziz El-Amraoui, Christine Petit

J Cell Biol. 2016 Jan 18; 212(2): 231–244. doi: 10.1083/jcb.201509017

PMCID:: PMC4738386

Abstract Article PDF–3.2M

Select item 60793844.

Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear

Peipei Li, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu, Jiangang Gao

Neural Plast. 2018; 2018: 4372913. Published online 2018 Jul 5. doi: 10.1155/2018/4372913

PMCID:: PMC6079384

Abstract Article PDF–3.7M

Select item 80234285.

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

Vanessa L. Walsh, Dorith Raviv, Amiel A. Dror, Hashem Shahin, Tom Walsh, Moien N. Kanaan, Karen B. Avraham, Mary-Claire King

Mamm Genome. Author manuscript; available in PMC 2021 Apr 6.

Published in final edited form as: Mamm Genome. 2011 Apr; 22(3-4): 170–177. Published online 2010 Dec 17. doi: 10.1007/s00335-010-9310-6

PMCID:: PMC8023428

Abstract Article PDF–1.3M

Select item 66251316.

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar

Mol Genet Genomic Med. 2019 Jul; 7(7): e00780. Published online 2019 Jun 4. doi: 10.1002/mgg3.780

PMCID:: PMC6625131

Abstract Article PDF–734K

Select item 63717447.

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

Akemi J. Tanaka, Kanji Okumoto, Shigehiko Tamura, Yuichi Abe, Yoel Hirsch, Liyong Deng, Joseph Ekstein, Wendy K. Chung, Yukio Fujiki

Cold Spring Harb Mol Case Stud. 2019 Feb; 5(1): a003483. doi: 10.1101/mcs.a003483

PMCID:: PMC6371744

Abstract Article PDF–12M

Select item 82401038.

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi

J Adv Res. 2021 Jul; 31: 13–24. Published online 2021 Jan 12. doi: 10.1016/j.jare.2021.01.005

PMCID:: PMC8240103

Abstract Article PDF–1.7M

Select item 87387549.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Christel Vaché, David Baux, Julie Bianchi, Corinne Baudoin, Valérie Faugère, Christine Francannet, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

Eur J Hum Genet. 2022 Jan; 30(1): 34–41. Published online 2021 Dec 3. doi: 10.1038/s41431-021-01010-9

PMCID:: PMC8738754

Abstract Article PDF–1.1M

Select item 449926610.

Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward

Kamogelo Lebeko, Jason Bosch, Jean Jacques Nzeale Noubiap, Collet Dandara, Ambroise Wonkam

Pan Afr Med J. 2015; 20: 383. Published online 2015 Apr 17. doi: 10.11604/pamj.2015.20.383.5230

PMCID:: PMC4499266

Abstract Article PDF–553K

Select item 444987511.

Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

Ana Paula Grillo, Flávia Marcorin de Oliveira, Gabriela Queila de Carvalho, Ruan Felipe Vieira Medrano, Sueli Matilde da Silva-Costa, Edi Lúcia Sartorato, Camila Andréa de Oliveira

Biomed Res Int. 2015; 2015: 318727. Published online 2015 May 17. doi: 10.1155/2015/318727

PMCID:: PMC4449875

Abstract Article PDF–773K

Select item 422091312.

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects

Jiandong Zhao, Yongyi Yuan, Shasha Huang, Bangqing Huang, Jing Cheng, Dongyang Kang, Guojian Wang, Dongyi Han, Pu Dai

PLoS One. 2014; 9(11): e108134. Published online 2014 Nov 5. doi: 10.1371/journal.pone.0108134

PMCID:: PMC4220913

Abstract Article PDF–221K

Select item 403642513.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Hae-Mi Woo, Hong-Joon Park, Mi-Hyun Park, Bo-Young Kim, Joong-Wook Shin, Won Gi Yoo, Soo Kyung Koo

BMC Med Genet. 2014; 15: 46. Published online 2014 Apr 28. doi: 10.1186/1471-2350-15-46

PMCID:: PMC4036425

Abstract Article PDF–867K

Select item 351153314.

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, Joseph Foster, II, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin

PLoS One. 2012; 7(11): e50628. Published online 2012 Nov 30. doi: 10.1371/journal.pone.0050628

Correction in:: PLoS One. 2013; 8(5): 10.1371/annotation/0668e8de-97ae-4a04-ac61-8afa9c79bbdd.

PMCID:: PMC3511533

Abstract Article PDF–275K

Select item 308043315.

Vestibular Dysfunction in DFNB1 deafness

Kelley M Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya, Kathleen S Arnos

Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 993–1000. Published online 2011 Apr 4. doi: 10.1002/ajmg.a.33828

PMCID:: PMC3080433

Abstract Article PDF–317K

Select item 291754216.

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

Abstract Article PDF–635K

Select item 275895017.

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy

Gheona Altarescu, Talia Eldar-Geva, Baruch Brooks, Edith Zylber-Haran, Irit Varshaver, Ehud J. Margalioth, Ephrat Levy-Lahad, Paul Renbaum

J Assist Reprod Genet. 2009 Jul; 26(7): 391–397. Published online 2009 Sep 2. doi: 10.1007/s10815-009-9335-5

PMCID:: PMC2758950

Abstract Article PDF–126K

Select item 128517818.

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

Abstract Article PDF–832K

Select item 1041631819.

Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future

Anushree Acharya, Isabelle Schrauwen, Suzanne M. Leal

Hum Genet. Author manuscript; available in PMC 2023 Aug 11.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 413–430. Published online 2021 Jul 22. doi: 10.1007/s00439-021-02309-9

PMCID:: PMC10416318

Abstract Article PDF–963K

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