Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Hagith, Yonath"'
Autor:
Disha‐Gajanan Hiregange, Andre Rivalta, Ada Yonath, Ella Zimmerman, Anat Bashan, Hagith Yonath
Publikováno v:
FEBS Open Bio, Vol 12, Iss 7, Pp 1419-1434 (2022)
Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine‐tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond
Externí odkaz:
https://doaj.org/article/0ce63b00562444fdb43438c0573327c8
Autor:
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated
Externí odkaz:
https://doaj.org/article/e733bb6318cd4cbcadc0d78a11b7a3cd
Autor:
Oded Shamriz, Naseem Zahalka, Amos J. Simon, Atar Lev, Ortal Barel, Nofar Mor, Yuval Tal, Michael J. Segel, Raz Somech, Hagith Yonath, Ori Toker
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes. Here, we present our experience with
Externí odkaz:
https://doaj.org/article/ba36a8c0777f413da68f54d565c2aafb
Autor:
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5551e236309b7081069f46ca7428ec
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews
Autor:
Eyal Nof, Haike Reznik-Wolf, Efrat Ofek, Orly Goitein, Leonid Visochyk, Lorenzo Monserrat, Martin Ortiz-Genga, Michael Glikson, Michael Arad, Natalie Landa, Elon Pras, Roy Beinart, Hagith Yonath, Shimrit Oz, Tuvia Ben-Gal, Dov Freimark
Publikováno v:
International Journal of Cardiology. 317:133-138
Background Filamin C is a cytoskeletal protein expressed in cardiac cells. Nonsense variations in the filamin C gene (FLNC) were associated with dilated and arrhythmogenic cardiomyopathies. Methods and results We identified an intronic variation in F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b02cc2318cd018abfedaeed3ed19b2d
https://doi.org/10.1016/j.ijcard.2020.04.005
https://doi.org/10.1016/j.ijcard.2020.04.005
Autor:
Odelia Chorin, Amihood Singer, Aviva Eliyahu, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Moran Gal, Gideon Rechavi, Andreea Nissenkorn, Hana Poran, Julia Grinshpun-Cohen, Michal Berkenstadt, Yael Gazit, Lidia V. Gabis, Yael Finezilber, Bruria Ben-Zeev, Noam Shimshoviz, Hagith Yonath, Omri Nayshool, Elon Pras, Nofar Mor, Reviva Einy, Efrat Zohar-Dayan, Miriam Regev, Michal Tzadok, Haike Reznik-Wolf, Ben Pode-Shakked, Elisheva Javasky, Ortal Barel, Lior Greenbaum, Dina Marek-Yagel, Ifat Bar-Joseph, Meirav Segev, Nitzan Kol, Gali Heimer, Omer Bar-Yosef
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yiel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5f147b62e189389a2194182b3c7132
http://europepmc.org/articles/PMC8476634
http://europepmc.org/articles/PMC8476634
Autor:
Rivka Sukenik-Halevy, Lior Greenbaum, Idit Maya, Shlomit Rienstein, Adel Shalata, Lena Sagi-Dain, Amihood Singer, Michal Berkenstadt, Eldad Katorza, Hagith Yonath
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveWe investigated the detection rate of clinically significant chromosomal microarray analysis (CMA) results in pregnancies with sonographic diagnosis of fetal corpus callosum anomalies (CCA) or posterior fossa anomalies (PFA).MethodsAll CMA t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3c40461c05a0b7a49692f47ba188b29
http://europepmc.org/articles/PMC8163489
http://europepmc.org/articles/PMC8163489
Publikováno v:
Mediterranean Journal of Rheumatology
Mediterranean Journal of Rheumatology, Vol 31, Iss 1, Pp 75-77 (2019)
Mediterranean Journal of Rheumatology, Vol 31, Iss 1, Pp 75-77 (2019)
Clinically amyopathic dermatomyositis is an uncommon autoimmune disorder in the Middle East. The clinical picture of clinically amyopathic dermatomyositis is characterized mainly by pulmonary and dermatological manifestations. Occasionally muscle sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7eb16eb0c42a6c5e8adedd3e1bc9ec
http://europepmc.org/articles/PMC7219642
http://europepmc.org/articles/PMC7219642
Autor:
Hagith Yonath, Shlomit Rienstein, Sharon Zeligson, Amihood Singer, Adi Reches, Lena Sagi-Dain, Idit Maya, Shay Ben Shachar
Publikováno v:
Acta Obstetricia et Gynecologica Scandinavica. 99:757-764
Introduction Ventricular septal defect (VSD) represents the most common type of congenital cardiac anomaly, affecting more than 1 in 300 live births. The objective of this study was to examine the incidence and nature of abnormal chromosomal microarr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff05eea8d6c169599635fa13e9daa2c
https://doi.org/10.1111/aogs.13708
https://doi.org/10.1111/aogs.13708
Autor:
Shaye Kivity, Alisa Taliansky, Lior Seluk, Yehuda Shoenfeld, Boris Gilburd, Hagith Yonath, Howard Amital
Publikováno v:
Clinical Immunology. 199:29-36
Background Paraneoplastic neurological syndromes (PNS) are a group of syndromes that affect the central and peripheral neuromuscular system in association with cancer. Specific antibodies may assist in the diagnosis of PNS. The antibodies tested can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c613359b8660991f9f43aa8d76d23508
https://doi.org/10.1016/j.clim.2018.12.007
https://doi.org/10.1016/j.clim.2018.12.007