PMC Articles for MedGen (Select 342839) - PMC

Select item 57566061.

Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

Marzieh NASERI, Masoud AKBARZADEHLALEH, Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Leila SHAMS, Azim NEJATIZADEH

Iran J Public Health. 2018 Jan; 47(1): 95–102.

PMCID:: PMC5756606

Abstract Article PDF–813K

Select item 13802122.

Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

Hashem Shahin, Tom Walsh, Tama Sobe, Judeh Abu Sa’ed, Amal Abu Rayan, Eric D. Lynch, Ming K. Lee, Karen B. Avraham, Mary-Claire King, Moein Kanaan

Am J Hum Genet. 2006 Jan; 78(1): 144–152. Published online 2005 Nov 21. doi: 10.1086/499495

PMCID:: PMC1380212

Abstract Article PDF–5.2M

Select item 72686953.

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family

Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang, Fengchan Han

BMC Med Genet. 2020; 21: 121. Published online 2020 Jun 1. doi: 10.1186/s12881-020-01055-5

PMCID:: PMC7268695

Abstract Article PDF–935K

Select item 28797074.

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia That Are Essential for Hearing

Shin-ichiro Kitajiri, Takeshi Sakamoto, Inna A. Belyantseva, Richard J. Goodyear, Ruben Stepanyan, Ikuko Fujiwara, Jonathan E. Bird, Saima Riazuddin, Sheikh Riazuddin, Zubair M. Ahmed, Jenny E. Hinshaw, James Sellers, James R. Bartles, John A. Hammer, III, Guy P. Richardson, Andrew J. Griffith, Gregory I. Frolenkov, Thomas B. Friedman

Cell. Author manuscript; available in PMC 2011 May 28.

Published in final edited form as: Cell. 2010 May 28; 141(5): 786–798. doi: 10.1016/j.cell.2010.03.049

PMCID:: PMC2879707

Abstract Article PDF–5.5M

Select item 13802115.

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

Saima Riazuddin, Shaheen N. Khan, Zubair M. Ahmed, Manju Ghosh, Kyle Caution, Sabiha Nazli, Madhulika Kabra, Ahmad U. Zafar, Kevin Chen, Sadaf Naz, Anthony Antonellis, William J. Pavan, Eric D. Green, Edward R. Wilcox, Penelope L. Friedman, Robert J. Morell, Sheikh Riazuddin, Thomas B. Friedman

Am J Hum Genet. 2006 Jan; 78(1): 137–143. Published online 2005 Nov 21. doi: 10.1086/499164

PMCID:: PMC1380211

Abstract Article PDF–2.4M

Select item 95442056.

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

Abstract Article PDF–1.3M

Select item 86357497.

Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family

Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Jing Wang, Shanling Liu

Front Genet. 2021; 12: 766973. Published online 2021 Nov 17. doi: 10.3389/fgene.2021.766973

PMCID:: PMC8635749

Abstract Article PDF–1.7M

Select item 96734548.

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai

BMC Med Genomics. 2022; 15: 241. Published online 2022 Nov 18. doi: 10.1186/s12920-022-01368-9

PMCID:: PMC9673454

Abstract Article PDF–2.5M

Select item 66876259.

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing

Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan

Mol Genet Genomic Med. 2019 Aug; 7(8): e808. Published online 2019 Jun 28. doi: 10.1002/mgg3.808

PMCID:: PMC6687625

Abstract Article PDF–1.3M

Select item 589107510.

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Stephen B. Shears, Saima Riazuddin

PLoS Genet. 2018 Mar; 14(3): e1007297. Published online 2018 Mar 28. doi: 10.1371/journal.pgen.1007297

PMCID:: PMC5891075

Abstract Article PDF–9.4M

Select item 548534411.

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

Neural Plast. 2017; 2017: 3192090. Published online 2017 Jun 13. doi: 10.1155/2017/3192090

PMCID:: PMC5485344

Abstract Article PDF–1.1M

Select item 490823412.

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

Abstract Article PDF–1.6M

Select item 382858413.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Xue Gao, Qing-yan Zhu, Yue-Shuai Song, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Li-ping Guan, Jian-guo Zhang, Pu Dai

J Transl Med. 2013; 11: 284. Published online 2013 Nov 9. doi: 10.1186/1479-5876-11-284

PMCID:: PMC3828584

Abstract Article PDF–1.6M

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