Literature DB >> 20447146

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

T Yang, K Kahrizi, N Bazazzadeghan, N Meyer, H Najmabadi, R J H Smith.   

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Year:  2010        PMID： 20447146      PMCID： PMC2882090          DOI： 10.1111/j.1399-0004.2009.01338.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  12 in total

1.  Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea.

Authors:  Walter Marcotti; Alexandra Erven; Stuart L Johnson; Karen P Steel; Corné J Kros
Journal:  J Physiol       Date:  2006-04-20       Impact factor: 5.182

2.  A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

Authors:  S Kitajiri; T Makishima; T B Friedman; A J Griffith
Journal:  Clin Genet       Date:  2007-02       Impact factor: 4.438

3.  Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Authors:  Regie Lyn P Santos; Muhammad Wajid; Mohammad Nasim Khan; Nathan McArthur; Thanh L Pham; Attya Bhatti; Kwanghyuk Lee; Saba Irshad; Asif Mir; Kai Yan; Maria H Chahrour; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal
Journal:  Hum Mutat       Date:  2005-10       Impact factor: 4.878

4.  Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Authors:  E Kalay; A Karaguzel; R Caylan; A Heister; F P M Cremers; C W R J Cremers; H G Brunner; A P M de Brouwer; H Kremer
Journal:  Hum Mutat       Date:  2005-12       Impact factor: 4.878

5.  Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.

Authors:  Christian G Meyer; Nagla M Gasmelseed; Adil Mergani; Mubarak M A Magzoub; Birgit Muntau; Thorsten Thye; Rolf D Horstmann
Journal:  Hum Mutat       Date:  2005-01       Impact factor: 4.878

6.  Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Authors:  S-I Kitajiri; R McNamara; T Makishima; T Husnain; A U Zafar; R A Kittles; Z M Ahmed; T B Friedman; S Riazuddin; A J Griffith
Journal:  Clin Genet       Date:  2007-09-17       Impact factor: 4.438

7.  Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

Authors:  Nele Hilgert; Kelly Monahan; Kiyoto Kurima; Cindy Li; Rick A Friedman; Andrew J Griffith; Guy Van Camp
Journal:  J Hum Genet       Date:  2009-01-30       Impact factor: 3.172

8.  Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Authors:  N Hilgert; F Alasti; N Dieltjens; B Pawlik; B Wollnik; O Uyguner; S Delmaghani; D Weil; C Petit; E Danis; T Yang; E Pandelia; M B Petersen; D Goossens; J D Favero; M H Sanati; R J H Smith; G Van Camp
Journal:  Clin Genet       Date:  2008-07-09       Impact factor: 4.438

9.  TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.

Authors:  Abdelaziz Tlili; Imen Ben Rebeh; Mounira Aifa-Hmani; Houria Dhouib; Jihen Moalla; Jihen Tlili-Chouchène; Mariem Ben Said; Imed Lahmar; Zeineb Benzina; Ilhem Charfedine; Nabil Driss; Abdelmonem Ghorbel; Hammadi Ayadi; Saber Masmoudi
Journal:  Audiol Neurootol       Date:  2008-02-07       Impact factor: 1.854

10.  TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins.

Authors:  Gabor Keresztes; Hideki Mutai; Stefan Heller
Journal:  BMC Genomics       Date:  2003-06-17       Impact factor: 3.969
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  17 in total

Review 1.  Distinct functions of TMC channels: a comparative overview.

Authors:  Xiaomin Yue; Yi Sheng; Lijun Kang; Rui Xiao
Journal:  Cell Mol Life Sci       Date:  2019-10-04       Impact factor: 9.261

2.  Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.

Authors:  Yoshiyuki Kawashima; Gwenaëlle S G Géléoc; Kiyoto Kurima; Valentina Labay; Andrea Lelli; Yukako Asai; Tomoko Makishima; Doris K Wu; Charles C Della Santina; Jeffrey R Holt; Andrew J Griffith
Journal:  J Clin Invest       Date:  2011-11-21       Impact factor: 14.808

3.  Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Authors:  Ayesha Imtiaz; Azra Maqsood; Atteeq U Rehman; Robert J Morell; Jeffrey R Holt; Thomas B Friedman; Sadaf Naz
Journal:  Neurogenetics       Date:  2016-02-16       Impact factor: 2.660

4.  Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Authors:  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
Journal:  Am J Med Genet A       Date:  2015-06-16       Impact factor: 2.802

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

Authors:  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; Patrick L M Huygen; Melanie Bahlo; Richard J H Smith; Hossein Najmabadi
Journal:  Ann Otol Rhinol Laryngol       Date:  2010-12       Impact factor: 1.547

6.  Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Authors:  Hiroshi Nakanishi; Kiyoto Kurima; Yoshiyuki Kawashima; Andrew J Griffith
Journal:  Auris Nasus Larynx       Date:  2014-06-02       Impact factor: 1.863

Review 7.  TMC function in hair cell transduction.

Authors:  Jeffrey R Holt; Bifeng Pan; Mounir A Koussa; Yukako Asai
Journal:  Hear Res       Date:  2014-01-11       Impact factor: 3.208

8.  TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear.

Authors:  Bifeng Pan; Gwenaelle S Géléoc; Yukako Asai; Geoffrey C Horwitz; Kiyoto Kurima; Kotaro Ishikawa; Yoshiyuki Kawashima; Andrew J Griffith; Jeffrey R Holt
Journal:  Neuron       Date:  2013-07-18       Impact factor: 17.173

Review 9.  Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.

Authors:  Yoshiyuki Kawashima; Kiyoto Kurima; Bifeng Pan; Andrew J Griffith; Jeffrey R Holt
Journal:  Pflugers Arch       Date:  2014-07-31       Impact factor: 3.657

10.  Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Authors:  Tao Yang; Xiaoming Wei; Yongchuan Chai; Lei Li; Hao Wu
Journal:  Orphanet J Rare Dis       Date:  2013-06-14       Impact factor: 4.123
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