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 63

1.
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
ArticlePDF–2.5M
2.
Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
Ying Fu, Shasha Huang, Xue Gao, Mingyu Han, Guojian Wang, Dongyang Kang, Yongyi Yuan, Pu Dai
BMC Med Genomics. 2022; 15: 71. Published online 2022 Mar 26. doi: 10.1186/s12920-022-01201-3
PMCID:
PMC8962197
ArticlePDF–1.3M
3.
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness
Fangfang Jiang, Yasuharu Takagi, Arik Shams, Sarah M. Heissler, Thomas B. Friedman, James R. Sellers, Jonathan E. Bird
J Biol Chem. 2021 Jan-Jun; 296: 100243. Published online 2021 Jan 9. doi: 10.1074/jbc.RA120.014903
PMCID:
PMC7948958
ArticlePDF–1.9M
4.
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang
BMC Med Genet. 2019; 20: 60. Published online 2019 Apr 5. doi: 10.1186/s12881-019-0790-2
PMCID:
PMC6451310
ArticlePDF–6.6M
5.
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9
PMCID:
PMC6389081
ArticlePDF–1.3M
6.
A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang
BMC Med Genet. 2018; 19: 133. Published online 2018 Aug 1. doi: 10.1186/s12881-018-0657-y
PMCID:
PMC6090657
ArticlePDF–2.0M
7.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman
Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 991–1003. Published online 2016 Aug 21. doi: 10.1002/humu.23042
PMCID:
PMC5021573
ArticlePDF–1.7M
8.
Chaperone-enhanced purification of unconventional myosin 15, a molecular motor specialized for stereocilia protein trafficking
Jonathan E. Bird, Yasuharu Takagi, Neil Billington, Marie-Paule Strub, James R. Sellers, Thomas B. Friedman
Proc Natl Acad Sci U S A. 2014 Aug 26; 111(34): 12390–12395. Published online 2014 Aug 11. doi: 10.1073/pnas.1409459111
PMCID:
PMC4151768
ArticlePDF–1.0M
9.
Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population
Zohreh Fattahi, A. Eliot Shearer, Mojgan Babanejad, Niloofar Bazazzadegan, Seyed Navid Almadani, Nooshin Nikzat, Khadijeh Jalalvand, Sanaz Arzhangi, Fatemehsadat Esteghamat, Rezvan Abtahi, Batool Azadeh, Richard J.H. Smith, Kimia Kahrizi, Hossein Najmabadi
Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 29.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 0(8): 1857–1864. Published online 2012 Jun 26. doi: 10.1002/ajmg.a.34411
PMCID:
PMC3757123
ArticlePDF–1.7M
10.
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
Rasheeda Bashir, Amara Fatima, Sadaf Naz
Eur J Med Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Eur J Med Genet. 2012 Feb; 55(2): 99–102. Published online 2011 Dec 30. doi: 10.1016/j.ejmg.2011.12.003
PMCID:
PMC3534775
ArticlePDF–860K
11.
Mutations in the MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
A. Eliot Shearer, Michael S. Hildebrand, Jennifer A. Webster, Kimia Kahrizi, Khadijeh Jalalvand, Sanaz Arzhanginy, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi
Laryngoscope. Author manuscript; available in PMC 2010 Jun 14.
Published in final edited form as: Laryngoscope. 2009 Apr; 119(4): 727–733. doi: 10.1002/lary.20116
PMCID:
PMC2885251
ArticlePDF–675K
12.
Age-Related Changes in Cochlear Gene Expression In Normal and Shaker 2 Mice
Tzy-Wen L. Gong, I. Jill Karolyi, James MacDonald, Lisa Beyer, Yehoash Raphael, David C. Kohrman, Sally A. Camper, Margaret I. Lomax
J Assoc Res Otolaryngol. 2006 Sep; 7(3): 317–328. Published online 2006 Jun 23. doi: 10.1007/s10162-006-0046-7
PMCID:
PMC2504614
ArticlePDF–635K
13.
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
M J Kovach, J P Lin, S Boyadjiev, K Campbell, L Mazzeo, K Herman, L A Rimer, W Frank, B Llewellyn, E W Jabs, D Gelber, V E Kimonis
Am J Hum Genet. 1999 Jun; 64(6): 1580–1593. doi: 10.1086/302420
PMCID:
PMC1377901
SummaryPDF–609K
14.
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Y Liang, A Wang, F J Probst, I N Arhya, T D Barber, K S Chen, D Deshmukh, D F Dolan, J T Hinnant, L E Carter, P K Jain, A K Lalwani, X C Li, J R Lupski, S Moeljopawiro, R Morell, C Negrini, E R Wilcox, S Winata, S A Camper, T B Friedman
Am J Hum Genet. 1998 Apr; 62(4): 904–915. doi: 10.1086/301786
PMCID:
PMC1377026
SummaryPDF–456K
15.
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
S Winata, I N Arhya, S Moeljopawiro, J T Hinnant, Y Liang, T B Friedman, J H Asher, Jr
J Med Genet. 1995 May; 32(5): 336–343. doi: 10.1136/jmg.32.5.336
PMCID:
PMC1050426
SummaryPage BrowsePDF–1.4M
16.
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle
Inna A. Belyantseva, Erich T. Boger, Thomas B. Friedman
Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 13958–13963. Published online 2003 Nov 10. doi: 10.1073/pnas.2334417100
PMCID:
PMC283528
ArticlePDF–856K
17.
Myosin-XVa Controls Both Staircase Architecture and Diameter Gradation of Stereocilia Rows in the Auditory Hair Cell Bundles
Shadan Hadi, Andrew J. Alexander, A. Catalina Vélez-Ortega, Gregory I. Frolenkov
J Assoc Res Otolaryngol. 2020 Apr; 21(2): 121–135. Published online 2020 Mar 9. doi: 10.1007/s10162-020-00745-4
PMCID:
PMC7271090
ArticlePDF–11M
18.
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
ArticlePDF–1.1M
19.
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family
Somayeh Reiisi, Mohammad Amin Tabatabaiefar, Mohammad Hosein Sanati, Morteza Hashemzadeh Chaleshtori
Iran J Basic Med Sci. 2016 Jul; 19(7): 772–778.
PMCID:
PMC5010850
ArticlePDF–1.3M
20.
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss
Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Azim NEJATIZADEH
Iran J Public Health. 2016 May; 45(5): 680–687.
PMCID:
PMC4935712
ArticlePDF–473K

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