PMC Articles for MedGen (Select 322084) - PMC

Links from MedGen

Items: 1 to 20 of 41

<< First< Prev

Page of 3

Select item 47327191.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel TMC1 mutations

Nele Hilgert, Fatemeh Alasti, Nele Dieltjens, Barbara Pawlik, Bernd Wollnik, Oya Uyguner, Sedigheh Delmaghani, Dominique Weil, Christine Petit, Evi Danis, Tao Yang, Efthimia Pandelia, Michael B. Petersen, Dirk Goossens, Jurgen Del Favero, Mohammad Hossein Sanati, Richard JH Smith, Guy Van Camp

Clin Genet. Author manuscript; available in PMC 2016 Jan 29.

Published in final edited form as: Clin Genet. 2008 Sep; 74(3): 223–232. Published online 2008 Jul 9. doi: 10.1111/j.1399-0004.2008.01053.x

PMCID:: PMC4732719

Abstract Article PDF–552K

Select item 30586272.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

Michael S. Hildebrand, Kimia Kahrizi, Catherine J. Bromhead, A. Eliot Shearer, Jennifer A. Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J. Kimberling, Dietrich Stephan, Partick L.M. Huygen, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2011 Mar 16.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2010 Dec; 119(12): 830–835. doi: 10.1177/000348941011901207

PMCID:: PMC3058627

Abstract Article PDF–273K

Select item 97950383.

Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss

Yoichiro Iwasa, Miles J Klimara, Hidekane Yoshimura, William D Walls, Ryotaro Omichi, Cody A West, Seiji B Shibata, Paul T Ranum, Richard JH Smith

Life Sci Alliance. 2023 Mar; 6(3): e202201592. Published online 2022 Dec 27. doi: 10.26508/lsa.202201592

PMCID:: PMC9795038

Abstract Article PDF–2.8M

Select item 93131334.

Optimized AAV Vectors for TMC1 Gene Therapy in a Humanized Mouse Model of DFNB7/11

Irina Marcovich, Nicholas K. Baer, Olga Shubina-Oleinik, Rachel Eclov, Clayton W. Beard, Jeffrey R. Holt

Biomolecules. 2022 Jul; 12(7): 914. Published online 2022 Jun 29. doi: 10.3390/biom12070914

PMCID:: PMC9313133

Abstract Article PDF–5.3M

Select item 90349815.

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss

Shin-ya Nishio, Shin-ichi Usami

Hum Genet. 2022; 141(3-4): 929–937. Published online 2021 Sep 14. doi: 10.1007/s00439-021-02364-2

PMCID:: PMC9034981

Abstract Article PDF–487K

Select item 72987006.

Tmc gene therapy restores auditory function in deaf mice

Charles Askew, Cylia Rochat, Bifeng Pan, Yukako Asai, Hena Ahmed, Erin Child, Bernard L. Schneider, Patrick Aebischer, Jeffrey R. Holt

Sci Transl Med. Author manuscript; available in PMC 2020 Jun 17.

Published in final edited form as: Sci Transl Med. 2015 Jul 8; 7(295): 295ra108. doi: 10.1126/scitranslmed.aab1996

PMCID:: PMC7298700

Abstract Article PDF–1.0M

Select item 56631637.

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India

Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, Shivaram Shastri, Neerja Gupta, Madhumita Roy Chowdhury, Anuranjan Anand, Madhulika Kabra

Indian J Med Res. 2017 Apr; 145(4): 492–497. doi: 10.4103/ijmr.IJMR_397_15

PMCID:: PMC5663163

Abstract Article PDF–1.0M

Select item 47959728.

Recessive mutations of TMC1 associated with moderate to severe hearing loss

Ayesha Imtiaz, Azra Maqsood, Atteeq U. Rehman, Robert J. Morell, Jeffrey R. Holt, Thomas B. Friedman, Sadaf Naz

Neurogenetics. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Neurogenetics. 2016 Apr; 17(2): 115–123. Published online 2016 Feb 16. doi: 10.1007/s10048-016-0477-1

PMCID:: PMC4795972

Abstract Article PDF–547K

Select item 45673929.

Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206

PMCID:: PMC4567392

Abstract Article PDF–786K

Select item 402076510.

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Yali Zhao, Dayong Wang, Liang Zong, Feifan Zhao, Liping Guan, Peng Zhang, Wei Shi, Lan Lan, Hongyang Wang, Qian Li, Bing Han, Ling Yang, Xin Jin, Jian Wang, Jun Wang, Qiuju Wang

PLoS One. 2014; 9(5): e97064. Published online 2014 May 14. doi: 10.1371/journal.pone.0097064

PMCID:: PMC4020765

Abstract Article PDF–2.0M

Select item 191473211.

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

D. A. Scott, R. Carmi, K. Elbedour, S. Yosefsberg, E. M. Stone, V. C. Sheffield

Am J Hum Genet. 1996 Aug; 59(2): 385–391.

PMCID:: PMC1914732

Summary Page Browse PDF–1.1M

Select item 900006512.

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Minna Kraatari-Tiri, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli, Elisa Rahikkala

J Clin Med. 2022 Apr; 11(7): 1837. Published online 2022 Mar 26. doi: 10.3390/jcm11071837

PMCID:: PMC9000065

Abstract Article PDF–913K

Select item 682566213.

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations

Mahbobeh KOOHIYAN, Somayeh REIISI, Fatemeh AZADEGAN-DEHKORDI, Mansoor SALEHI, Hamidreza ABTAHI, Morteza HASHEMZADEH-CHALESHTORI, Mohammad Reza NOORI-DALOII, Mohammad Amin TABATABAIEFAR

Iran J Public Health. 2019 Sep; 48(9): 1704–1713.

PMCID:: PMC6825662

Abstract Article PDF–1.1M

Select item 608122014.

Identification of four TMC1 variations in different Chinese families with hereditary hearing loss

Hongyang Wang, Kaiwen Wu, Jing Guan, Ju Yang, Linyi Xie, Fen Xiong, Lan Lan, Dayong Wang, Qiuju Wang

Mol Genet Genomic Med. 2018 Jul; 6(4): 504–513. Published online 2018 Apr 14. doi: 10.1002/mgg3.394

PMCID:: PMC6081220

Abstract Article PDF–4.0M

Select item 488462615.

Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

Negar Moradipour, Payam Ghasemi-Dehkordi, Fatemeh Heibati, Shahrbanuo Parchami-Barjui, Marziyeh Abolhasani, Ahmad Rashki, Morteza Hashemzadeh-Chaleshtori

Iran Red Crescent Med J. 2016 Mar; 18(3): e22076. Published online 2016 Mar 28. doi: 10.5812/ircmj.22076