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Items: 1 to 20 of 23

1.
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss
Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa, Tatsuo Matsunaga
Orphanet J Rare Dis. 2017; 12: 157. Published online 2017 Sep 25. doi: 10.1186/s13023-017-0708-z
PMCID:
PMC5613382
AbstractArticlePDF–2.2M
2.
Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA
Byung Yoon Choi, Jiwoong Kim, Juyong Chung, Ah Reum Kim, Sue Jean Mun, Seong Il Kang, Sang-Heon Lee, Namshin Kim, Seung-Ha Oh
PLoS One. 2014; 9(5): e97040. Published online 2014 May 9. doi: 10.1371/journal.pone.0097040
PMCID:
PMC4016231
AbstractArticlePDF–830K
3.
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family
Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu, Qizhu Wu
BMC Med Genet. 2014; 15: 34. Published online 2014 Mar 19. doi: 10.1186/1471-2350-15-34
PMCID:
PMC3994966
AbstractArticlePDF–1.9M
4.
Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment
Zhengyue Li, Yilian Guo, Yu Lu, Jianzhong Li, Zhanguo Jin, Hongbo Li, Yanping Lu, Pu Dai, Dongyi Han, Jing Cheng, Huijun Yuan
PLoS One. 2013; 8(7): e70134. Published online 2013 Jul 31. doi: 10.1371/journal.pone.0070134
PMCID:
PMC3729559
AbstractArticlePDF–522K
5.
DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss
Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencía, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J. Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K. Lachlan, A. Eliot Shearer, Terry A. Braun, Patrick L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J.H. Smith, Miguel A. Moreno-Pelayo
Hum Mutat. Author manuscript; available in PMC 2012 Apr 16.
Published in final edited form as: Hum Mutat. 2011 Jul; 32(7): 825–834. Published online 2011 Jun 7. doi: 10.1002/humu.21512
PMCID:
PMC3326665
AbstractArticlePDF–1.8M
6.
Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family
Rutger F. Plantinga, Cor W.R.J. Cremers, Patrick L.M. Huygen, Henricus P.M. Kunst, Arjan J. Bosman
J Assoc Res Otolaryngol. 2007 Mar; 8(1): 1–7. Published online 2006 Nov 30. doi: 10.1007/s10162-006-0060-9
PMCID:
PMC2538417
AbstractArticlePDF–311K
7.
A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
Rutger F. Plantinga, Arjan P.M. de Brouwer, Patrick L.M. Huygen, Henricus P.M. Kunst, Hannie Kremer, Cor W.R.J. Cremers
J Assoc Res Otolaryngol. 2006 Jun; 7(2): 173–181. Published online 2006 Apr 25. doi: 10.1007/s10162-006-0033-z
PMCID:
PMC2504577
AbstractArticlePDF–364K
8.
Distinctive audiometric profile associated with DFNB21 alleles of TECTA
S Naz, F Alasti, A Mowjoodi, S Riazuddin, M Sanati, T Friedman, A Griffith, E Wilcox, S Riazuddin
J Med Genet. 2003 May; 40(5): 360–363. doi: 10.1136/jmg.40.5.360
PMCID:
PMC1735454
SummaryPDF–243K
9.
A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family
M. A. Moreno-Pelayo, I. del Castillo, M. Villamar, L. Romero, F. J. Hernandez-Calvin, C. Herraiz, R. Barbera, C. Navas, F. Moreno
J Med Genet. 2001 May; 38(5): e13. doi: 10.1136/jmg.38.5.e13
PMCID:
PMC1734870
SummaryPDF–125K
10.
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
K Verhoeven, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems
Am J Hum Genet. 1997 May; 60(5): 1168–1173.
PMCID:
PMC1712440
SummaryPage BrowsePDF–918K
11.
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.
J Balciuniene, N Dahl, E Borg, E Samuelsson, M J Koisti, U Pettersson, E E Jazin
Am J Hum Genet. 1998 Sep; 63(3): 786–793. doi: 10.1086/302012
PMCID:
PMC1377400
Abstract
12.
RWDD3 and TECTA variants not linked to paclitaxel induced peripheral neuropathy in North American trial N08C1
Amit A. Kulkarni, Ganesh Boora, Rahul Kanwar, Kathryn J. Ruddy, Michaela S. Banck, Nguyet Le-Lindqwister, Terry M. Therneau, Charles L. Loprinzi, Andreas S. Beutler
Acta Oncol. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Acta Oncol. 2015 Sep; 54(8): 1227–1229. Published online 2014 Dec 31. doi: 10.3109/0284186X.2014.985388
PMCID:
PMC4490132
ArticlePDF–260K
13.
Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, P J Willems, R J Smith
Am J Hum Genet. 1997 Apr; 60(4): 758–764.
PMCID:
PMC1712474
SummaryPage BrowsePDF–1.2M
14.
A Comparative Analysis of Genetic Hearing Loss Phenotypes in European/American and Japanese Populations
W. Daniel Walls, Hideaki Moteki, Taylor R. Thomas, Shin-ya Nishio, Hidekane Yoshimura, Yoichiro Iwasa, Kathy L. Frees, Carla J. Nishimura, Hela Azaiez, Kevin T. Booth, Robert J. Marini, Diana L. Kolbe, A. Monique Weaver, Amanda M. Schaefer, Kai Wang, Terry A. Braun, Shin-ichi Usami, Peter G. Barr-Gillespie, Guy P. Richardson, Richard J. Smith, Thomas L. Casavant
Hum Genet. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Hum Genet. 2020 Oct; 139(10): 1315–1323. Published online 2020 May 7. doi: 10.1007/s00439-020-02174-y
PMCID:
PMC7487054
AbstractArticlePDF–1.1M
15.
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families
Xueshuang Mei, Yaqi Zhou, Muhammad Amjad, Weiqiang Yang, Rufei Zhu, Muhammad Asif, Hafiz Muhammad Jafar Hussain, Tao Yang, Furhan Iqbal, Hongyi Hu
Neural Plast. 2021; 2021: 5528434. Published online 2021 Apr 22. doi: 10.1155/2021/5528434
PMCID:
PMC8084664
AbstractArticlePDF–1.0M
16.
Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation
Anping Xia, Simon S. Gao, Tao Yuan, Alexander Osborn, Andreas Bress, Markus Pfister, Stephen M. Maricich, Fred A. Pereira, John S. Oghalai
Dis Model Mech. 2010 Mar-Apr; 3(3-4): 209–223. Published online 2010 Feb 8. doi: 10.1242/dmm.004135
PMCID:
PMC2869304
AbstractArticle
17.
Loss of Mammal-specific Tectorial Membrane Component Carcinoembryonic Antigen Cell Adhesion Molecule 16 (CEACAM16) Leads to Hearing Impairment at Low and High Frequencies
Robert Kammerer, Lukas Rüttiger, Rainer Riesenberg, Constanze Schäuble, Rosemarie Krupar, Annegret Kamp, Kishiko Sunami, Andreas Eisenried, Martin Hennenberg, Fritz Grunert, Andreas Bress, Sebastiano Battaglia, Heinrich Schrewe, Marlies Knipper, Marlon R. Schneider, Wolfgang Zimmermann
J Biol Chem. 2012 Jun 22; 287(26): 21584–21598. Published online 2012 Apr 27. doi: 10.1074/jbc.M111.320481
PMCID:
PMC3381124
AbstractArticlePDF–4.0M
18.
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
Jing Zheng, Katharine K. Miller, Tao Yang, Michael S. Hildebrand, A. Eliot Shearer, Adam P. DeLuca, Todd E. Scheetz, Jennifer Drummond, Steve E. Scherer, P. Kevin Legan, Richard J. Goodyear, Guy P. Richardson, Mary Ann Cheatham, Richard J. Smith, Peter Dallos
Proc Natl Acad Sci U S A. 2011 Mar 8; 108(10): 4218–4223. Published online 2011 Feb 22. doi: 10.1073/pnas.1005842108
PMCID:
PMC3054008
AbstractArticlePDF–922K
19.
New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing
Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg
Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6
PMCID:
PMC4367857
AbstractArticlePDF–3.1M
20.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M

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