Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Karen B Avraham"'
Autor:
Elizabeth L Wagner, Jun-Sub Im, Stefano Sala, Maura I Nakahata, Terence E Imbery, Sihan Li, Daniel Chen, Katherine Nimchuk, Yael Noy, David W Archer, Wenhao Xu, George Hashisaki, Karen B Avraham, Patrick W Oakes, Jung-Bum Shin
Publikováno v:
eLife, Vol 12 (2023)
Prolonged exposure to loud noise has been shown to affect inner ear sensory hair cells in a variety of deleterious manners, including damaging the stereocilia core. The damaged sites can be visualized as ‘gaps’ in phalloidin staining of F-actin,
Externí odkaz:
https://doaj.org/article/c58afd57aa30460798c8d8ef6686916d
Autor:
Shahar Taiber, Roie Cohen, Ofer Yizhar‐Barnea, David Sprinzak, Jeffrey R Holt, Karen B Avraham
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 2, Pp 1-15 (2020)
Abstract Genetic variants account for approximately half the cases of congenital and early‐onset deafness. Methods and technologies for viral delivery of genes into the inner ear have evolved over the past decade to render gene therapy a viable and
Externí odkaz:
https://doaj.org/article/ce8d23d683bc4696b309fe1b3d3e90fd
Autor:
Elena Rosengauer, Heiner Hartwich, Anna Maria Hartmann, Anya Rudnicki, Somisetty Venkata Satheesh, Karen B Avraham, Hans Gerd Nothwang
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e49503 (2012)
Histogenesis of the auditory system requires extensive molecular orchestration. Recently, Dicer1, an essential gene for generation of microRNAs, and miR-96 were shown to be important for development of the peripheral auditory system. Here, we investi
Externí odkaz:
https://doaj.org/article/f0a22bbdb71e4986b98d577ca13b68ce
Autor:
Tal Elkan-Miller, Igor Ulitsky, Ronna Hertzano, Anya Rudnicki, Amiel A Dror, Danielle R Lenz, Ran Elkon, Martin Irmler, Johannes Beckers, Ron Shamir, Karen B Avraham
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e18195 (2011)
We have employed a novel approach for the identification of functionally important microRNA (miRNA)-target interactions, integrating miRNA, transcriptome and proteome profiles and advanced in silico analysis using the FAME algorithm. Since miRNAs pla
Externí odkaz:
https://doaj.org/article/f3ed3b16f5a043c795cd7984dde8e466
Autor:
Scott F Geller, Karen I Guerin, Meike Visel, Aaron Pham, Edwin S Lee, Amiel A Dror, Karen B Avraham, Toshinori Hayashi, Catherine A Ray, Thomas A Reh, Olivia Bermingham-McDonogh, William J Triffo, Shaowen Bao, Juha Isosomppi, Hanna Västinsalo, Eeva-Marja Sankila, John G Flannery
Publikováno v:
PLoS Genetics, Vol 5, Iss 8, p e1000607 (2009)
Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. Clarin 1, the protein product of CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synaps
Externí odkaz:
https://doaj.org/article/5b0b5b895c4640a499371880eb763eef
Autor:
Ronna Hertzano, Ella Shalit, Agnieszka K Rzadzinska, Amiel A Dror, Lin Song, Uri Ron, Joshua T Tan, Alina Starovolsky Shitrit, Helmut Fuchs, Tama Hasson, Nir Ben-Tal, H Lee Sweeney, Martin Hrabe de Angelis, Karen P Steel, Karen B Avraham
Publikováno v:
PLoS Genetics, Vol 4, Iss 10, p e1000207 (2008)
Myosin VI, found in organisms from Caenorhabditis elegans to humans, is essential for auditory and vestibular function in mammals, since genetic mutations lead to hearing impairment and vestibular dysfunction in both humans and mice. Here, we show th
Externí odkaz:
https://doaj.org/article/c93a49e10cf3424f8f87e51adb39ccf6
Publikováno v:
Human Genomics, Vol 12, Iss 1, Pp 1-19 (2018)
Abstract Background Hearing loss is a major cause of disability worldwide, impairing communication, health, and quality of life. Emerging methods of gene therapy aim to address this morbidity, which can be employed to fix a genetic problem causing ha
Externí odkaz:
https://doaj.org/article/5aa143fafa284c49bf479965efded6ec
Publikováno v:
Annual Review of Genomics and Human Genetics. 23:275-299
Current estimates suggest that nearly half a billion people worldwide are affected by hearing loss. Because of the major psychological, social, economic, and health ramifications, considerable efforts have been invested in identifying the genes and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6223686d7bc2e347b3995174fad0b4
https://doi.org/10.1146/annurev-genom-121321-094136
https://doi.org/10.1146/annurev-genom-121321-094136
Autor:
Amal Aburayyan, Ryan J Carlson, Grace N Rabie, Ming K Lee, Suleyman Gulsuner, Tom Walsh, Karen B Avraham, Moien N Kanaan, Mary-Claire King
Publikováno v:
Human Molecular Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a238a761452b6520d02ced3fcdc5e04d
https://doi.org/10.1093/hmg/ddad066
https://doi.org/10.1093/hmg/ddad066
Autor:
Justin A. Pater, Cindy Penney, Darren D. O’Rielly, Anne Griffin, Lara Kamal, Zippora Brownstein, Barbara Vona, Chana Vinkler, Mordechai Shohat, Ortal Barel, Curtis R. French, Sushma Singh, Salem Werdyani, Taylor Burt, Nelly Abdelfatah, Jim Houston, Lance P. Doucette, Jessica Squires, Fabian Glaser, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Geoffrey Woodland, Touati Benoukraf, Alexia Hawkey-Noble, Karen B. Avraham, Susan G. Stanton, Terry-Lynn Young
Publikováno v:
Human Genetics. 141:431-444
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A, in a Newfoundland family with a variable form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca455289d0587f2d98b6a154eee482de
https://doi.org/10.1007/s00439-022-02444-x
https://doi.org/10.1007/s00439-022-02444-x