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Items: 1 to 20 of 39

1.
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
Atteeq U. Rehman, Khitab Gul, Robert J. Morell, Kwanghyuk Lee, Zubair M. Ahmed, Saima Riazuddin, Rana A. Ali, Mohsin Shahzad, Ateeq-ul Jaleel, Paula B. Andrade, Shaheen N. Khan, Saadullah Khan, Carmen C. Brewer, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman
Hum Genet. Author manuscript; available in PMC 2012 Mar 14.
Published in final edited form as: Hum Genet. 2011 Dec; 130(6): 759–765. Published online 2011 Jun 10. doi: 10.1007/s00439-011-1018-5
PMCID:
PMC3303183
AbstractArticlePDF–2.3M
2.
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders, Kausik Ray, Michael S. Hildebrand, Arabandi Ramesh, C. R. Srikumari Srisailapathy, Jaap Oostrik, Ronald J. C. Admiraal, Harold R. Neely, Joseph R. Latoche, Richard J. H. Smith, John K. Northup, Hannie Kremer, Jeffrey R. Holt, Konrad Noben-Trauth
Nat Commun. 2011 Feb 15; 2: 201. Published online 2011 Feb 15. doi: 10.1038/ncomms1200
PMCID:
PMC3105340
AbstractArticlePDF–1.1M
3.
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov
Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001
PMCID:
PMC10218609
AbstractArticlePDF–2.1M
4.
前庭水管扩大患者颞骨高分辨率CT和SLC26A4基因及听力损失的相关性研究
赵 质彬, 祝 园平, 符 一飞, 姜 鸿彦
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002
PMCID:
PMC10128559
AbstractArticlePDF–763K
5.
Microtubule-associated protein 1 A and tubby act independently in regulating the localization of stereocilin to the tips of inner ear hair cell stereocilia
Song Yi Youn, Hyehyun Min, Se Rok Jeong, Jiahn Lee, Seok Jun Moon, Jinwoong Bok, Chul Hoon Kim
Mol Brain. 2022; 15: 80. Published online 2022 Sep 14. doi: 10.1186/s13041-022-00966-z
PMCID:
PMC9472429
AbstractArticlePDF–2.5M
6.
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts
Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang
BMC Med Genomics. 2022; 15: 152. Published online 2022 Jul 8. doi: 10.1186/s12920-022-01271-3
PMCID:
PMC9270741
AbstractArticlePDF–1.2M
7.
Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness
Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati, Masoumeh Falah
BMC Med Genomics. 2022; 15: 133. Published online 2022 Jun 16. doi: 10.1186/s12920-022-01287-9
PMCID:
PMC9204965
AbstractArticlePDF–2.6M
8.
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family
Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun
BMC Med Genomics. 2022; 15: 49. Published online 2022 Mar 6. doi: 10.1186/s12920-022-01200-4
PMCID:
PMC8898487
AbstractArticlePDF–1.4M
9.
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
AbstractArticlePDF–7.0M
10.
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss
Lihua Wu, Yunliang Liu, Jianman Wu, Sheng Chen, Shupin Tang, Yi Jiang, Pu Dai
Biosci Rep. 2019 Mar 29; 39(3): BSR20182241. Prepublished online 2019 Mar 7. Published online 2019 Mar 22. doi: 10.1042/BSR20182241
PMCID:
PMC6430729
AbstractArticlePDF–851K
11.
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto
BMC Med Genet. 2018; 19: 73. Published online 2018 May 8. doi: 10.1186/s12881-018-0585-x
PMCID:
PMC5941635
AbstractArticlePDF–981K
12.
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Parna Chattaraj, Tina Munjal, Keiji Honda, Nanna D Rendtorff, Jessica S Ratay, Julie A Muskett, Davide S Risso, Isabelle Roux, E Michael Gertz, Alejandro A Schäffer, Thomas B Friedman, Robert J Morell, Lisbeth Tranebjærg, Andrew J Griffith
J Med Genet. Author manuscript; available in PMC 2018 Apr 2.
Published in final edited form as: J Med Genet. 2017 Oct; 54(10): 665–673. Published online 2017 Aug 5. doi: 10.1136/jmedgenet-2017-104721
Correction in:
J Med Genet. 2018 Oct 4
Correction in:
J Med Genet. 2023 Jul 6
PMCID:
PMC5880640
AbstractArticlePDF–655K
13.
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis
Ya-Jie Lu, Jun Yao, Qin-Jun Wei, Guang-Qian Xing, Xin Cao
Medicine (Baltimore) 2015 Dec; 94(50): e2248. Published online 2015 Dec 18. doi: 10.1097/MD.0000000000002248
PMCID:
PMC5058913
AbstractArticlePDF–690K
14.
Novel function of LHFPL2 in female and male distal reproductive tract development
Fei Zhao, Jun Zhou, Rong Li, Elizabeth A. Dudley, Xiaoqin Ye
Sci Rep. 2016; 6: 23037. Published online 2016 Mar 11. doi: 10.1038/srep23037
PMCID:
PMC4786858
AbstractArticlePDF–2.0M
15.
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss
Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L. Friedman, Iwar Klimes, John H. Greinwald, Jr., S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N. Khan, Thomas B. Friedman, Zubair M. Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddin
Hum Genet. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Hum Genet. 2015 Apr; 134(4): 423–437. Published online 2015 Feb 10. doi: 10.1007/s00439-015-1532-y
PMCID:
PMC4561550
AbstractArticlePDF–1.1M
16.
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
AbstractArticlePDF–1.1M
17.
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
AbstractArticlePDF–1.9M
18.
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
AbstractArticlePDF–914K
19.
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population
Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian
PLoS One. 2023; 18(8): e0289247. Published online 2023 Aug 10. doi: 10.1371/journal.pone.0289247
PMCID:
PMC10414579
AbstractArticlePDF–933K
20.
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
AbstractArticlePDF–2.5M

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