Zobrazeno 1 - 10
of 249
pro vyhledávání: '"Thomas B Friedman"'
Autor:
Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Publikováno v:
eLife, Vol 10 (2021)
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for
Externí odkaz:
https://doaj.org/article/b6069badb6b14498bff5ec71588e5683
Autor:
Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 14, Iss 3, p e1007297 (2018)
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing
Externí odkaz:
https://doaj.org/article/82cbaa41f0b04304a24ab3821e971473
Autor:
Luca Melli, Neil Billington, Sara A Sun, Jonathan E Bird, Attila Nagy, Thomas B Friedman, Yasuharu Takagi, James R Sellers
Publikováno v:
eLife, Vol 7 (2018)
Nonmusclemyosin 2 (NM-2) powers cell motility and tissue morphogenesis by assembling into bipolar filaments that interact with actin. Although the enzymatic properties of purified NM-2 motor fragments have been determined, the emergent properties of
Externí odkaz:
https://doaj.org/article/cb1b9d31e9ba413fa47328cdf4cc9808
Autor:
Qing Fang, Artur A Indzhykulian, Mirna Mustapha, Gavin P Riordan, David F Dolan, Thomas B Friedman, Inna A Belyantseva, Gregory I Frolenkov, Sally A Camper, Jonathan E Bird
Publikováno v:
eLife, Vol 4 (2015)
The precise assembly of inner ear hair cell stereocilia into rows of increasing height is critical for mechanotransduction and the sense of hearing. Yet, how the lengths of actin-based stereocilia are regulated remains poorly understood. Mutations of
Externí odkaz:
https://doaj.org/article/2bb78c086df8425aa92d18252eff5938
Autor:
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo
Externí odkaz:
https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10
Autor:
Artur A Indzhykulian, Ruben Stepanyan, Anastasiia Nelina, Kateri J Spinelli, Zubair M Ahmed, Inna A Belyantseva, Thomas B Friedman, Peter G Barr-Gillespie, Gregory I Frolenkov
Publikováno v:
PLoS Biology, Vol 11, Iss 6, p e1001583 (2013)
Sound detection by inner ear hair cells requires tip links that interconnect mechanosensory stereocilia and convey force to yet unidentified transduction channels. Current models postulate a static composition of the tip link, with protocadherin 15 (
Externí odkaz:
https://doaj.org/article/dce20030d1bd4f91a84ae8fa5707710a
Publikováno v:
Frontiers in Physiology, Vol 15 (2024)
Deleterious variants of more than one hundred genes are associated with hearing loss including MYO3A, MYO6, MYO7A and MYO15A and two conventional myosins MYH9 and MYH14. Variants of MYO7A also manifest as Usher syndrome associated with dysfunction of
Externí odkaz:
https://doaj.org/article/22decc39706a4e20b3b0f0701b646f64
Autor:
Samantha C. Lau, Mhamed Grati, Kevin Isgrig, Moaz Sinan, Kaitlyn R. Calabro, Jianliang Zhu, Yasuko Ishibashi, Zeynep Ozgur, Talah Wafa, Inna A. Belyantseva, Tracy Fitzgerald, Thomas B. Friedman, Sanford L. Boye, Shannon E. Boye, Wade W. Chien
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 534-545 (2023)
Usher syndrome is the most common cause of deafness-blindness in the world. Usher syndrome type 1B (USH1B) is associated with mutations in MYO7A. Patients with USH1B experience deafness, blindness, and vestibular dysfunction. In this study, we applie
Externí odkaz:
https://doaj.org/article/ea475ade936f41d5b9fc0d539fc7be4e
Autor:
Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J. Morell, Elizabeth Wilson, Ying Xia, Tanveer Ahmed Qaiser, Muhammad Rashid, Cristina Fenollar-Ferrer, Michael Hoa, Sheikh Riazuddin, Thomas B. Friedman
Publikováno v:
Genes, Vol 15, Iss 7, p 845 (2024)
Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many mutant genes causing rare forms of deafness remain to be discovered. A consanguineous Pakistani family segregating nonsyndromic deafness in two sibships were studied
Externí odkaz:
https://doaj.org/article/254eadb3cf67477a8f64b8345308b2bc
Autor:
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E. Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J. Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A. Awandare, Robert J. Morell, Ekaterini Tsilou, Amanda G. Noyes, Laura A. G. Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M. Leal, Hela Azaiez, Carmen C. Brewer, Sheikh Riazuddin, Robert B. Hufnagel, Michael Hoa, Wadih M. Zein, J. Karl de Dios, Thomas B. Friedman
Publikováno v:
Clinical Genetics. 103:699-703