A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss

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

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1

Autor: Tom Walsh, Silvia Casadei, Ofer Isakov, Mary Claire King, Matthew W. Kelley, Noa Ruhrman-Shahar, Eiríkur Steingrímsson, Maria Birkan, Mor Bordeynik-Cohen, Ronna Hertzano, Nadra Samra, Morad Khayat, Nada Danial-Farran, Naama Zvi, Zippora Brownstein, Moshe Frydman, Elon Pras, Ophir Handzel, Moien Kanaan, Fabio Tadeu Arrojo Martins, Michal Macarov, Noam Shomron, Asgeir O. Arnthorsson, Bella Davidov, Doaa Ali-Naffaa, Michal Sagi, Lara Kamal, Reuven Sharony, Lina Basel-Salmon, Ming K. Lee, Meirav Sokolov, Weise Chang, Ory Madgar, Michael Wolf, Dorit Lev, Karen B. Avraham, Hagit Baris-Feldman, Dror Gilony, Ryan J. Carlson, Hana Poran, Noga Lipschitz, Shahar Taiber, Suleyman Gulsuner, Amal Abu-Rayyan, Stavit Allon-Shalev, Chana Vinkler, Amihood Singer, Amir Peleg, Efrat Sofrin‐Drucker, Mordechai Shohat

Publikováno v: Clin Genet

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84df7512b560e32da80d89b20de85d7
https://doi.org/10.1111/cge.13817

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1

Autor: Noam Shomron, Mor Bordeynik-Cohen, Lara Kamal, Dror Gilony, Ryan J. Carlson, Morad Khayat, Asgeir Orn Arnporsson, Tom Walsh, Silvia Casadei, Naama Zvi, Noga Lipschitz, Hana Poran, Michal Sagi, Maria Birkan, Weise Chang, Ory Madgar, Amihood Singer, Shahar Taiber, Ronna Hertzano, Noa Ruhrman-Shahar, Ophir Handzel, Eiríkur Steingrímsson, Moien Kanaan, Michael Wolf, Hagit Baris-Feldman, Amir Peleg, Chana Vinkler, Bella Davidov, Michal Macarov, Stavit Allon-Shalev, Nadra Samara, Ming Lee, Reuven Sharony, Meirav Sokolov, Elon Pras, Karen B. Avraham, Zippora Brownstein, Fabio Tadeu Arrojo Martins, Efrat Sofrin, Matthew W. Kelley, Dorit Lev, Mordechai Shohat, Moshe Frydman, Lina Basel-Salmon, Ofer Isakov, Mary Claire King, Nada Danial-Farran, Amal Abu Rayyan, Suleyman Gulsuner, Doaa Ali-Naffaa

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21fce4c73e992b5baf03f30eb98b1863
https://doi.org/10.1101/2020.06.11.144790

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Autor: Sherene Agama, Peter D. Arkwright, Sofie Tucker, Kelly D. Stone, Dean D. Metcalfe, Yu Zhang, Sarah C. Glover, Robert J. Hohman, Yun Bai, Neil N. Trivedi, Maryland Pao, Xiaomin Yu, Todd M. Wilson, Joshua J McElwee, Marc E. Rothenberg, Helen F. Matthews, Michael P. O'Connell, Jason D. Hughes, Nancy Ho, Jonathan J. Lyons, Theo Heller, Lawrence B. Schwartz, Nina Jones, George H. Caughey, Quang T. Le, Ali Jamil, Celine Hong, Yihui Liu, Ming Zhao, Thomas DiMaggio, Leslie G. Biesecker, Katie L. Lewis, Joshua D. Milner, Ryan J. Carlson, Celeste Nelson, Andrew J. Oler

Publikováno v: Lyons, J J, Yu, X, Hughes, J D, Le, Q T, Jamil, A, Bai, Y, Ho, N, Zhao, M, Liu, Y, O’Connell, M P, Trivedi, N N, Nelson, C, DiMaggio, T, Jones, N, Matthews, H, Lewis, K, Oler, A, Carlson, R J, Arkwright, P, Hong, C, Agama, S, Wilson, T, Tucker, S, Zhang, Y, McElwee, J J, Pao, M, Glover, S C, Rothenberg, M E, Hohman, R J, Stone, K D, Caughey, G H, Heller, T, Metcalfe, D D, Biesecker, L G, Schwartz, L B & Milner, J D 2016, ' Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number ', Nature Genetics . https://doi.org/10.1038/ng.3696

Elevated basal serum tryptase levels are present in 4–6% of the general population, but the cause and relevance of such increases are unknown1, 2. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95b7c97e09ceded14ce1ee7149478e4
https://europepmc.org/articles/PMC5397297/

Analysis of modeling techniques for low-cost actuators

Autor: Andrei Dorobantu, Ryan J. Carlson, Peter Seiler, Brian R. Taylor

Publikováno v: Scopus-Elsevier

Low-cost actuators are equipped on small uninhabited aerial vehicle platforms to displace the control surfaces and maneuver the aircraft. The control laws, models, and even a complete description of the actuator output are typically unavailable from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2744750362f00afedb76849b63deab
http://www.scopus.com/inward/record.url?eid=2-s2.0-84883678784&partnerID=MN8TOARS