Zobrazeno 1 - 10
of 189
pro vyhledávání: '"Karin, Weiss"'
Autor:
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine ind
Externí odkaz:
https://doaj.org/article/490c3c6f5efa46c79fc60769df8db9e9
Autor:
Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry pathogenic founder va
Externí odkaz:
https://doaj.org/article/98d73e2983624db18de54e83054016dd
Autor:
Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100828- (2023)
Purpose: Exome sequencing (ES) is a powerful tool that facilitates the diagnosis of patients with rare Mendelian syndromes. In 2018 the Israeli Ministry of Health initiated a national pilot program that funds ES for outpatients with global developmen
Externí odkaz:
https://doaj.org/article/833fdf6b298b43b69d198cbbb5b6c64d
Autor:
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/4d17ed3fcc1b46bc9b7e947038dedff7
Autor:
Shirley Pollack, Israel Eisenstein, Adi Mory, Tamar Paperna, Ayala Ofir, Hagit Baris-Feldman, Karin Weiss, Nóra Veszeli, Dorottya Csuka, Revital Shemer, Fabian Glaser, Zoltán Prohászka, Daniella Magen
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Background and ObjectivesAtypical hemolytic uremic syndrome (aHUS) is mostly attributed to dysregulation of the alternative complement pathway (ACP) secondary to disease-causing variants in complement components or regulatory proteins. Hereditary aHU
Externí odkaz:
https://doaj.org/article/74756f326a914ed0a514e0494ac08732
Autor:
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
Publikováno v:
The American Journal of Human Genetics. 110:681-690
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005
https://doi.org/10.1016/j.ajhg.2023.03.005
Autor:
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
Publikováno v:
Genetics in Medicine. 24:2464-2474
KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite out
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8667d6e12377ca40b4af5f3614b402
https://doi.org/10.1016/j.gim.2022.08.020
https://doi.org/10.1016/j.gim.2022.08.020
Autor:
Milena Crippa, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Palma Finelli
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 2
Externí odkaz:
https://doaj.org/article/0ef7aae585f645aa881ecd90a799dbc0
Autor:
Gili Reznick Levi, Yael Goldberg, Hanna Segev, Itay Maza, Yuri Gorelik, Ido Laish, Zohar Levi, Inbal Kedar, Sonia Naftali Nathan, Nitzan Sharon Swartzman, Naim Abu Freha, Maya Paritsky, Gad Rennert, Hagit Baris Feldman, Tamar Paperna, Karin Weiss, Elizabeth E. Half
Publikováno v:
Digestive and Liver Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::635ba7e94873634900b23a0c32daeec7
https://doi.org/10.1016/j.dld.2023.01.151
https://doi.org/10.1016/j.dld.2023.01.151
Autor:
Karin Weiss, Alina Kurolap, Tamar Paperna, Adi Mory, Maya Steinberg, Tova Hershkovitz, Nina Ekhilevitch, Hagit N. Baris
Publikováno v:
Rambam Maimonides Medical Journal, Vol 9, Iss 3, p e0018 (2018)
Objective: The growing availability of next-generation sequencing technologies has revolutionized medical genetics, facilitating discovery of causative genes in numerous Mendelian disorders. Nevertheless, there are still many undiagnosed cases. We re
Externí odkaz:
https://doaj.org/article/03b86d61a4954d5c93187820253128e8