Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Ortal B"'
Autor:
Kasirer, Yair, Bin-Nun, Alona, Hammerman, Cathy, Yosef, Ortal B., Marianayagam, Neelan, Hammerman-Rozenberg, Aliza, Shchors, Irina, Ben-David, Eliel
Publikováno v:
American Journal of Perinatology; Oct2023, Vol. 40 Issue 13, p1467-1472, 6p
Autor:
Manuela Pendziwiat, Renske Oegema, Ioanna Kousiappa, Yvonne G. Weber, Francesca Ragona, Dennis Lal, Ulrike B. S. Hedrich, Mulahasanovic L, Gali Heimer, Kearney H, Hiltrud Muhle, Pasquale Striano, Paolo Scudieri, Annika Rademacher, Rothschild A, Michele Iacomino, Lohmann E, Augustijn Pb, Russell J. Buono, Holger Lerche, Philipp S. Reif, George A. Tanteles, Karl Martin Klein, Bayat A, Francesca Bisulli, Wolfram S. Kunz, Montgomery S, Bruria Bz, Papacostas Ss, Renzo Guerrini, Laura Licchetta, Ingo Helbig, Bruenger T, Federico Zara, Zahnert F, Marie T. McDonald, Hartmut Baier, Patrick May, Niklas Schwarz, Doyle Mg, Simone Seiffert, Vetro A, Paolo Tinuper, Ortal B, Tiziana Granata, Felix Rosenow, Raffaella Minardi
BackgroundKCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2), which are important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain.MethodsIndividuals with KCN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::131db9f88aa44bfd6aca81db1441d657
https://doi.org/10.1101/2021.05.21.21257099
https://doi.org/10.1101/2021.05.21.21257099
Akademický článek
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Autor:
Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund, Ohad S. Birk, Erez Tsumi
Publikováno v:
Rambam Maimonides Medical Journal, Vol 15, Iss 1, p e0005 (2024)
Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryo-stenosis is a common entity affecting mostly women. While a few mechanisms have been suggested as contributors to the expression of NLDO, the trigger
Externí odkaz:
https://doaj.org/article/37956adb61884ad3b3180446ca7881df
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 227-232 (2022)
A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglyc
Externí odkaz:
https://doaj.org/article/3967adb0e10a43b7ac58ec8e08b056b4
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Autor:
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric su
Externí odkaz:
https://doaj.org/article/5ffe107900c941c4ab532f5edb295397
Autor:
Oded Shamriz, Limor Rubin, Amos J. Simon, Atar Lev, Ortal Barel, Raz Somech, Maya Korem, Sigal Matza Porges, Tal Freund, David Hagin, Ben Zion Garty, Amit Nahum, Vered Molho Pessach, Yuval Tal
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundAutosomal dominant hyper-IgE syndrome (AD-HIES) caused by dominant negative (DN) variants in the signal transducer and activator of transcription 3 gene (STAT3) is characterized by recurrent Staphylococcal abscesses, severe eczema, chronic
Externí odkaz:
https://doaj.org/article/8adf71c5ab17485abb675f878df3540b
Autor:
Mutaz Sultan, Mohammad Adawi, Nitzan Kol, Blake McCourt, Ihda Adawi, Liran Baram, Noa Tal, Lael Werner, Atar Lev, Scott B. Snapper, Ortal Barel, Liza Konnikova, Raz Somech, Dror S. Shouval
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
PurposeReceptor-interacting serine/threonine-protein kinase 1 (RIPK1) is an important regulator of necroptosis and inflammatory responses. We present the clinical features, genetic analysis and immune work-up of two patients with infantile-onset infl
Externí odkaz:
https://doaj.org/article/9d62de14171e45ad88380c878ee90f4b