PMC Articles for MedGen (Select 432739) - PMC

Select item 95442051.

Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

Rosemary Ida Kabahuma, Wolf‐Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue‐Zhong Liu

Mol Genet Genomic Med. 2022 Oct; 10(10): e2015. Published online 2022 Aug 27. doi: 10.1002/mgg3.2015

PMCID:: PMC9544205

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Select item 92457062.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin

Proc Natl Acad Sci U S A. 2022 Jun 28; 119(26): e2204084119. Published online 2022 Jun 21. doi: 10.1073/pnas.2204084119

PMCID:: PMC9245706

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Select item 90349913.

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss

Shin-ichi Usami, Yuichi Isaka, Maiko Miyagawa, Shin-ya Nishio

Hum Genet. 2022; 141(3-4): 903–914. Published online 2022 Jan 12. doi: 10.1007/s00439-022-02431-2

PMCID:: PMC9034991

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Select item 71418804.

Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39

Robert J. Morell, Rafal Olszewski, Risa Tona, Samuel Leitess, Talah T. Wafa, Ian Taukulis, Julie M. Schultz, Elizabeth J. Thomason, Keri Richards, Brittany N. Whitley, Connor Hill, Thomas Saunders, Matthew F. Starost, Tracy Fitzgerald, Elizabeth Wilson, Takahiro Ohyama, Thomas B. Friedman, Michael Hoa

J Neurosci. 2020 Apr 8; 40(15): 2976–2992. doi: 10.1523/JNEUROSCI.2278-19.2020

PMCID:: PMC7141880

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Select item 70494435.

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

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Select item 59264766.

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

Neural Plast. 2018; 2018: 7272308. Published online 2018 Apr 16. doi: 10.1155/2018/7272308

PMCID:: PMC5926476

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Select item 58206777.

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

Haiqiong Shang, Denise Yan, Naeimeh Tayebi, Kolsoum Saeidi, Afsaneh Sahebalzamani, Yong Feng, Susan Blanton, Xuezhong Liu

Biomed Res Int. 2018; 2018: 3103986. Published online 2018 Jan 15. doi: 10.1155/2018/3103986

PMCID:: PMC5820677

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Select item 53408538.

Advances in genetic hearing loss: CIB2 gene

Agnieszka Jacoszek, Agnieszka Pollak, Rafał Płoski, Monika Ołdak

Eur Arch Otorhinolaryngol. 2017; 274(4): 1791–1795. Published online 2016 Oct 22. doi: 10.1007/s00405-016-4330-9

PMCID:: PMC5340853

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Select item 49082349.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, Hala El Hachmi, Crystel Bonnet, Zied Riahi, Sebastien Chardenoux, Isabelle Perfettini, Jean-Pierre Hardelin, Ahmed Houmeida, Philippe Herbomel, Christine Petit

Am J Hum Genet. 2016 Jun 2; 98(6): 1266–1270. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.04.015

PMCID:: PMC4908234

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Select item 473343310.

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

Guney Bademci, Joseph Foster, II, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, F.Basak Cengiz, Ibis Menendez, Oscar Diaz Horta, Atefeh Shirkavand, Sirous Zeinali, Asli Subasioglu, Suna Tokgoz-Yilmaz, Fabiola Huesca Hernandez, Maria de la Luz Arenas Sordo, Juan Dominguez-Aburto, Edgar Hernandez-Zamora, Paola Montenegro, Rosario Paredes, Germania Moreta, Rodrigo Vinueza, Franklin Villegas, Santiago Mendoza Benitez, Shengru Guo, Nazim Bozan, Tulay Tos, Armagan Incesulu, Gonca Sennaroglu, Susan H. Blanton, Hatice Ozturkmen Akay, Muzeyyen Yildirim-Baylan, Mustafa Tekin

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2016 Apr; 18(4): 364–371. Published online 2015 Jul 30. doi: 10.1038/gim.2015.89

Correction in:: Genet Med. 2016 Aug; 18(8): 859.

PMCID:: PMC4733433

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Select item 422091311.

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

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Select item 372794112.

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong, Soo Kyung Koo

BMC Med Genet. 2013; 14: 72. Published online 2013 Jul 17. doi: 10.1186/1471-2350-14-72

PMCID:: PMC3727941

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Select item 366421813.

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki

BMC Med Genet. 2013; 14: 56. Published online 2013 May 24. doi: 10.1186/1471-2350-14-56

PMCID:: PMC3664218

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Select item 350125914.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed

Nat Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426

PMCID:: PMC3501259

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Select item 284566715.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.

PMCID:: PMC2845667

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Select item 607938416.

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

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Select item 429124217.

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

Eva L. Morozko, Ayako Nishio, Neil J. Ingham, Rashmi Chandra, Tracy Fitzgerald, Elisa Martelletti, Guntram Borck, Elizabeth Wilson, Gavin P. Riordan, Philine Wangemann, Andrew Forge, Karen P. Steel, Rodger A. Liddle, Thomas B. Friedman, Inna A. Belyantseva

Hum Mol Genet. 2015 Feb 1; 24(3): 609–624. Published online 2014 Sep 12. doi: 10.1093/hmg/ddu474

PMCID:: PMC4291242

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