U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 53

1.
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
Irina N. Bespalova, Guy Van Camp, Steven J.H. Bom, David J. Brown, Kim Cryns, Andrew T. DeWan, Ayse E. Erson, Kris Flothmann, Henricus P.M. Kunst, Purnima Kurnool, Theru A. Sivakumaran, Cor W.R.J. Cremers, Suzanne M. Leal, Margit Burmeister, Marci M. Lesperance
Hum Mol Genet. Author manuscript; available in PMC 2018 Oct 23.
Published in final edited form as: Hum Mol Genet. 2001 Oct 15; 10(22): 2501–2508. doi: 10.1093/hmg/10.22.2501
PMCID:
PMC6198816
AbstractArticlePDF–1.1M
2.
Variable autoinhibition among deafness-associated variants of Diaphanous 1 (DIAPH1)
Rabina Lakha, Angela M. Montero, Tayyaba Jabeen, Christina C. Costeas, Jia Ma, Christina L. Vizcarra
Biochemistry. Author manuscript; available in PMC 2021 Sep 17.
Published in final edited form as: Biochemistry. 2021 Jul 27; 60(29): 2320–2329. Published online 2021 Jul 19. doi: 10.1021/acs.biochem.1c00170
PMCID:
PMC8447886
AbstractArticlePDF–1.6M
3.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper, Hanno Jörn Bolz
Orphanet J Rare Dis. 2015; 10: 15. Published online 2015 Feb 10. doi: 10.1186/s13023-015-0238-5
PMCID:
PMC4334766
AbstractArticlePDF–1.9M
4.
Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1
Bong Jik Kim, Takushi Miyoshi, Taimur Chaudhry, Thomas B. Friedman, Byung Yoon Choi, Takehiko Ueyama
Clin Genet. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Clin Genet. 2022 Apr; 101(4): 466–471. Published online 2022 Feb 2. doi: 10.1111/cge.14115
PMCID:
PMC8981108
AbstractArticlePDF–780K
5.
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
Chiara Chiereghin, Michela Robusto, Valentina Massa, Pierangela Castorina, Umberto Ambrosetti, Rosanna Asselta, Giulia Soldà
Cells. 2022 Jun; 11(11): 1726. Published online 2022 May 24. doi: 10.3390/cells11111726
PMCID:
PMC9179844
AbstractArticlePDF–967K
6.
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
Takushi Miyoshi, Inna A. Belyantseva, Shin-ichiro Kitajiri, Hiroki Miyajima, Shin-ya Nishio, Shin-ichi Usami, Bong Jik Kim, Byung Yoon Choi, Koichi Omori, Hari Shroff, Thomas B. Friedman
Hum Genet. Author manuscript; available in PMC 2024 Aug 28.
Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 363–382. Published online 2021 Jul 7. doi: 10.1007/s00439-021-02304-0
PMCID:
PMC11351816
AbstractArticlePDF–1.8M
7.
The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia
Yuzuru Ninoyu, Hirofumi Sakaguchi, Chen Lin, Toshiaki Suzuki, Shigeru Hirano, Yasuo Hisa, Naoaki Saito, Takehiko Ueyama
Cell Death Dis. 2020 Jul; 11(7): 536. Published online 2020 Jul 16. doi: 10.1038/s41419-020-02743-z
PMCID:
PMC7366933
AbstractArticlePDF–3.1M
8.
Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss
Takehiko Ueyama, Yuzuru Ninoyu, Shin‐ya Nishio, Takushi Miyoshi, Hiroko Torii, Koji Nishimura, Kazuma Sugahara, Hideaki Sakata, Dean Thumkeo, Hirofumi Sakaguchi, Naoki Watanabe, Shin‐ichi Usami, Naoaki Saito, Shin‐ichiro Kitajiri
EMBO Mol Med. 2016 Nov; 8(11): 1310–1324. Published online 2016 Oct 5. doi: 10.15252/emmm.201606609
PMCID:
PMC5090661
AbstractArticlePDF–3.7M
9.
Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case
Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin
Case Rep Genet. 2022; 2022: 4142214. Published online 2022 Sep 29. doi: 10.1155/2022/4142214
PMCID:
PMC9537009
AbstractArticlePDF–379K
10.
Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci
Biomedicines. 2023 Jun; 11(6): 1616. Published online 2023 Jun 1. doi: 10.3390/biomedicines11061616
PMCID:
PMC10296186
AbstractArticlePDF–523K
11.
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene
Marzieh Mohseni, Yusuf Mohammadi, Farzane Zare Ashrafi, Fatemeh Ghodratpour, Khadijeh Jalalvand, Sanaz Arzhangi, Mojgan Babanejad, Mohammad Hossein Azizi, Kimia Kahrizi, Hossein Najmabadi
Arch Iran Med. 2023 Mar; 26(3): 176–180. Published online 2023 Mar 1. doi: 10.34172/aim.2023.27
PMCID:
PMC10685723
AbstractArticlePDF–817K
12.
Rho-Family Small GTPases: From Highly Polarized Sensory Neurons to Cancer Cells
Takehiko Ueyama
Cells. 2019 Feb; 8(2): 92. Published online 2019 Jan 28. doi: 10.3390/cells8020092
PMCID:
PMC6406560
AbstractArticlePDF–2.9M
13.
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot
Li Wang, Denise Yan, Litao Qin, Tao Li, Hongjian Liu, Wan Li, Rahul Mittal, Feng Yong, Prem Chapagain, Shixiu Liao, Xuezhong Liu
Gene Rep. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Gene Rep. 2018 Jun; 11: 264–269. Published online 2018 Apr 28. doi: 10.1016/j.genrep.2018.04.011
PMCID:
PMC6309262
AbstractArticlePDF–669K
14.
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami
PLoS One. 2013; 8(5): e63231. Published online 2013 May 23. doi: 10.1371/journal.pone.0063231
PMCID:
PMC3662675
AbstractArticlePDF–925K
15.
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family
Xue Gao, Jin-Cao Xu, Wei-Qian Wang, Yong-Yi Yuan, Dan Bai, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jia Li, Dong-Yang Kang, Mei-Guang Zhang, Xi Lin, Pu Dai
Biomed Res Int. 2018; 2018: 5370802. Published online 2018 Apr 4. doi: 10.1155/2018/5370802
PMCID:
PMC5904794
AbstractArticlePDF–1.0M
16.
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung
BMC Med Genet. 2017; 18: 151. Published online 2017 Dec 19. doi: 10.1186/s12881-017-0511-7
PMCID:
PMC5735594
AbstractArticlePDF–1.3M
17.
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, Jae Jin Chae, Astin M. Ross, Gineth Pinto-Patarroyo, Seema K. Patel, Julie A. Muskett, Jessica S. Ratay, Parna Chattaraj, Yong Hwan Park, Sriharsha Grevich, Carmen C. Brewer, Michael Hoa, H. Jeffrey Kim, John A. Butman, Lori Broderick, Hal M. Hoffman, Ivona Aksentijevich, Daniel L. Kastner, Raphaela Goldbach-Mansky, Andrew J. Griffith
Proc Natl Acad Sci U S A. 2017 Sep 12; 114(37): E7766–E7775. Published online 2017 Aug 28. doi: 10.1073/pnas.1702946114
PMCID:
PMC5604003
AbstractArticlePDF–1.8M
18.
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee
Sci Rep. 2018; 8: 16659. Published online 2018 Nov 9. doi: 10.1038/s41598-018-34876-9
PMCID:
PMC6226507
AbstractArticlePDF–3.6M
19.
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9
Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu
PLoS One. 2017; 12(1): e0170011. Published online 2017 Jan 18. doi: 10.1371/journal.pone.0170011
PMCID:
PMC5243127
AbstractArticlePDF–1.3M
20.
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family
Mei-Na Li-Yang, Xiao-Fei Shen, Qin-Jun Wei, Jun Yao, Ya-Jie Lu, Xin Cao, Guang-Qian Xing
Chin Med J (Engl) 2015 Sep 20; 128(18): 2510–2515. doi: 10.4103/0366-6999.164980
PMCID:
PMC4725571
AbstractArticlePDF–1.4M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center