Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Hagit Baris Feldman"'
Autor:
John Z. Cao, Chen Itzkovich, Shir Toubiana, Lucy A. Godley, Adi Mory, Kamal Abu Jabal, Nadra Samra, Liran Giladi, Hagit Baris Feldman, Kristian Tveten, Hilde Yttervik, Sara Selig, Karin Weiss, Ilham Morani, Aya Tzur-Gilat
Publikováno v:
Journal of Human Genetics. 66:1101-1112
RBL2/p130, a member of the retinoblastoma family of proteins, is a key regulator of cell division and propagates irreversible senescence. RBL2/p130 is also involved in neuronal differentiation and survival, and eliminating Rbl2 in certain mouse strai
Autor:
Adi Mory, R Wollstein, Tamar Paperna, G Larom-Khan, Vardit Adir, Hagit Baris Feldman, Alina Kurolap, Lena Sagi-Dain, Noam Adir, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Amir Peleg
Publikováno v:
Clinical Dysmorphology. 30:71-75
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the ca
Autor:
Maria J. Guillen Sacoto, Jane A. Hurst, Yue Huang, Susan M. White, Michael E. March, Daniela Choukair, Qin Wang, Dana Brown, Matthew S. Kayser, Hane Lee, Tiong Yang Tan, Kristin Lindstrom, Hagit Baris Feldman, Dov Tiosano, Dong Li, Ashita Dava-Wala, Mariam Mathew, Matthew A. Deardorff, Katheryn Grand, Amy Siemon, Lynn Pais, Elizabeth J. Bhoj, Theresa Brunet, Julian A. Martinez-Agosto, Hakon Hakonarson, Naihua N. Gong, Kirsty McWalter, Claudia Gonzaga-Jauregui, Theresa A. Grebe, John Christodoulou, Melanie Brugger, Dennis Bartholomew, Yuanquan Song, Małgorzata J.M. Nowaczyk, Nikolas Boy, Emma Wakeling, Alina Kurolap, Eva M. C. Schwaibold
Publikováno v:
Science Advances
Exome sequencing and Drosophila modeling revealed variants in SMARCA5 as a novel cause of a neurodevelopmental disorder.
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However,
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However,
Autor:
Orly Eshach Adiv, Liza Konnikova, Sarah Wall, Scott B. Snapper, Adi Mory, Dror S. Shouval, Ron Shaoul, Alina Kurolap, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hagit Baris Feldman, Vanessa Mitsialis, Tamar Paperna, M. Steinberg, John D. Overton, Lael Werner, Moran Nunberg, Yaniv Zohar
Publikováno v:
Journal of Clinical Immunology. 39:430-439
This study aimed to characterize the clinical phenotype, genetic basis, and consequent immunological phenotype of a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease, and no evidence of recurrent or severe infections.
Autor:
Alina Kurolap, Hagit Baris Feldman, John D. Overton, Ann Saada, Adi Mory, Tova Hershkovitz, Tamar Paperna, Sarah Wolf, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hanna Mandel
Publikováno v:
Journal of Human Genetics. 64:589-595
Translation of mitochondrial-specific DNA is required for proper mitochondrial function and energy production. For this purpose, an elaborate network of dedicated molecular machinery including initiation, elongation and termination factors exists. We
Autor:
Daniel Monakier, Tova Hershkovitz, Nili Zucker, Birgit Funke, Hagit Baris Feldman, Gabriela Peretz-Amit, Rafael Hirsch, Elizabeth T. DeChene, Alina Kurolap, Noa Ruhrman-Shahar, Wen-Hann Tan
Publikováno v:
American Journal of Medical Genetics Part A. 179:365-372
MYH7-related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of familial hypertrophic CMs. MRDs may also present as skeletal myopathies, with or without CM. Since
Autor:
Nikolas Boy, Emma Wakeling, Julian A. Martinez, Lynn Pais, Qin Wang, Eva M. C. Schwaibold, Mariam Mathew, Katheryn Grand, Theresa Brunet, Małgorzata J.M. Nowaczyk, Matthew A Deardorff, Hane Lee, Ashita Dava-Wala, Kristin Lindstrom, Dana Brown, Kirsty McWalter, Matthew S. Kayser, Alina Kurolap, Yue Huang, Claudia Gonzaga-Jauregui, Elizabeth J. Bhoj, John Christodoulou, Hakon Hakonarson, Dov Tiosano, Amy Siemon, Tiong Yang Tan, Naihua N. Gong, Dennis Bartholomew, Yuanquan Song, Maria J. Guillen Sacoto, Hagit Baris Feldman, Dong Li, Susan M. White, Michael E. March, Daniela Choukair, Jane A. Hurst, Melanie Brugger, Theresa A. Grebe
Intellectual disability (ID) encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for over 50% of the patients remains elusive. We describe mutations inSMARCA5, encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7eccfc99a21720f6a0e850c17e74a1e4
https://doi.org/10.1101/2020.10.26.20217109
https://doi.org/10.1101/2020.10.26.20217109
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
https://doi.org/10.1101/2020.06.11.144790
Autor:
Marie Falkenberg Smeland, Alina Kurolap, Michael J. Gambello, Ariel F. Martinez, Livija Medne, Melita Irving, Elizabeth Roeder, Holly Dubbs, Robert M. Petrovich, Elaine H. Zackai, Motoki Takaku, Kimberly Nugent, Bruce D. Gelb, Peter D. Turnpenny, Michael Parker, Maximilian Muenke, Thomas Smol, Arie van Haeringen, Hanne Hove, Hitoshi Kurumizaka, Sandra Whalen, Boris Keren, Philippe M. Campeau, Samantha A. Schrier Vergano, Lior Cohen, Pauline Terhal, Amy Kenney, Paul A. Wade, Jill Clayton-Smith, Jamal Ghoumid, Shane C. Quinonez, John Roberts, Katherine Lachlan, Mahim Jain, Estelle Colin, Melissa Rumple, Solveig Heide, Kay Metcalfe, Alban Ziegler, Hayley P. Lazar, Elizabeth T. DeChene, Cara M. Skraban, Michael Wright, Karin Weiss, Danielle Monteil, Tamar Paperna, Avni Santani, Hagit Baris Feldman, Bryan L. Krock
Publikováno v:
Genetics in Medicine, 22(2), 389-397. NATURE PUBLISHING GROUP
Genetics in Medicine
Genetics in Medicine, 2019, Non spécifié. ⟨10.1038/s41436-019-0612-0⟩
Genet Med
Genetics in Medicine
Genetics in Medicine, 2019, Non spécifié. ⟨10.1038/s41436-019-0612-0⟩
Genet Med
Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype–phenotype correlations, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c01a1d9ee6a8d4558031f7dad3221364
http://hdl.handle.net/1887/3184937
http://hdl.handle.net/1887/3184937
Autor:
Adi Mory, Jeffrey Staples, Alina Kurolap, Hanna Mandel, Elena Dumin, Ann Saada, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Galit Tal, Tova Hershkovitz, Hagit Baris Feldman, Tamar Paperna
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100699-(2021)
Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; Fe-S assembly and distribution is performed via multi-step pathways. Variants affecting s