Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Alina Kurolap"'
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 1, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/4b9cb37a1b8440df888d10bc9b8590a6
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
Publikováno v:
Rambam Maimonides Medical Journal, Vol 12, Iss 3, p e0025 (2021)
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leadin
Externí odkaz:
https://doaj.org/article/11071def7a7d46b5a985c1f339a8a08f
Autor:
Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman
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; FeS assembly and distribution is performed via multi-step pathways. Variants affecting
Externí odkaz:
https://doaj.org/article/f079a3ffc9ef481eab1415a8fe09e5b2
Autor:
Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz:
https://doaj.org/article/5e2c03b6081043e5add48aba3812d059
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
Autor:
Alina Kurolap, Hagit Baris Feldman
Publikováno v:
Human Genetics. 142:595-597
Autor:
Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Roee Birnbaum, Hagit Baris Feldman, Yuval Yaron
Publikováno v:
Prenatal Diagnosis. 42:1484-1487
A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several
Autor:
Penina, Ponger, Alina, Kurolap, Israela, Lerer, Judith, Dagan, Chofit, Chai Gadot, Adi, Mory, Yael, Wilnai, Nino, Oniashvili, Nir, Giladi, Tanya, Gurevich, Vardiella, Meiner, Alexander, Lossos, Hagit, Baris Feldman
Publikováno v:
Journal of Molecular Neuroscience. 72:1715-1723
AOA2 is a rare progressive adolescent-onset disease characterised by cerebellar vermis atrophy, peripheral neuropathy and elevated serum alpha-fetoprotein (AFP) caused by pathogenic bi-allelic variants in SETX, encoding senataxin, involved in DNA rep
Autor:
Alina Kurolap, David Hagin, Tal Freund, Sigal Fishman, Noa Zunz Henig, Eli Brazowski, Josepha Yeshaya, Tova Naiman, Elon Pras, Jacob N. Ablin, Hagit Baris Feldman
Publikováno v:
Human Genetics. 142:683-690
The complement system regulator CD55 was initially found to carry the Cromer blood group system antigens, and its complete loss of function was subsequently revealed to cause a severe monogenic gastrointestinal syndrome characterized by protein-losin