Zobrazeno 1 - 10
of 247
pro vyhledávání: '"Thomas B. Friedman"'
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
Publikováno v:
STAR Protocols, Vol 2, Iss 4, Pp 100967- (2021)
Summary: Fast-dissociating, highly specific monoclonal antibodies (FDSAs) are single-molecule imaging probes useful for many biological assays including consecutive, multiplexable super-resolution microscopy. We developed a screening assay to charact
Externí odkaz:
https://doaj.org/article/e1fc8423d0574eea997bfe115e2c0405
Autor:
Stephanie A. Mauriac, Yeri E. Hien, Jonathan E. Bird, Steve Dos-Santos Carvalho, Ronan Peyroutou, Sze Chim Lee, Maite M. Moreau, Jean-Michel Blanc, Aysegul Gezer, Chantal Medina, Olivier Thoumine, Sandra Beer-Hammer, Thomas B. Friedman, Lukas Rüttiger, Andrew Forge, Bernd Nürnberg, Nathalie Sans, Mireille Montcouquiol
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)
Mutations inGPSM2cause a rare disease characterized by deafness and brain abnormalities. Here the authors show that Gpsm2 forms a molecular complex with a heterotrimeric G-protein subunit, whirlin and a myosin motor to regulate actin dynamics in neur
Externí odkaz:
https://doaj.org/article/540b4d96ab3949b09767a6c931c1a078
Autor:
Stephanie A. Mauriac, Yeri E. Hien, Jonathan E. Bird, Steve Dos-Santos Carvalho, Ronan Peyroutou, Sze Chim Lee, Maite M. Moreau, Jean-Michel Blanc, Aysegul Gezer, Chantal Medina, Olivier Thoumine, Sandra Beer-Hammer, Thomas B. Friedman, Lukas Rüttiger, Andrew Forge, Bernd Nürnberg, Nathalie Sans, Mireille Montcouquiol
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
Nature Communications 8: Article number: 14907 (2017); Published: 7 April 2017; Updated: 25 May 2018 The original version of this Article contained an error in the spelling of the author Aysegul Gezer, which was incorrectly given as Aysegul Geyser. T
Externí odkaz:
https://doaj.org/article/12af0198af2740ae8653fdda99944391
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:
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
Autor:
Andrew J. Griffith, Risa Tona, Liz M Nouel-Saied, Parna Chattaraj, Robert J. Morell, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Rizwan Yousaf, Anushree Acharya, Adebolajo A. Adeyemo, Thashi Bharadwaj, Samuel Okorie, Isabelle Roux, Isabelle Schrauwen
Publikováno v:
European Journal of Human Genetics
Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-
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