Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Nofar Mor"'
Autor:
James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100345- (2024)
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 2
Externí odkaz:
https://doaj.org/article/e0e49cd5da4340678f3756e671807267
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:
Alexander Plotnikov, Noga Kozer, Vladislav Krupalnik, Shani Peles, Nofar Mor, Yoach Rais, Jacob H. Hanna, Haim M. Barr
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 158-162 (2017)
Measurement of Alkaline Phosphatase (ALP) level is a widely used procedure in clinical and basic research. We present a simple and inexpensive luminescence-based method that allows multiplexed measurement and normalization of intracellular ALP levels
Externí odkaz:
https://doaj.org/article/847a6a26e3c54b17a76f497e9f1b5d7e
Autor:
Maayan Kagan, Yishay Ben Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Daniella Magen, Ruth Schreiber, Oded Volovelsky, Hadas Shasha-Lavsky, Miriam Davidovits, Yael Borovitz, Nofar Mor, Yulia Khavkin, Shimrit Tzvi Behr, Shirley Pollack, Michael Geylis, Aviad Schnapp, Irith Weissman, Ortal Barel, Asaf Vivante
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND Chronic kidney disease in children is estimated to be secondary to a monogenic etiology in ∼20% of patients and can arise from mutations in a multitude of different single-gene causes. Still, data are lacking on the true prevalence of ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::112e0c7d4a1ff37e3b5ec88dd11be5c9
https://doi.org/10.1093/ndt/gfac102.003
https://doi.org/10.1093/ndt/gfac102.003
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:
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, Lilach C. Regev, Maayan Kagan, Aviva Eliyahu, Dina Marek-Yagel, Danit Atias-Varon, Einat Lahav, Naomi Issler, Omer Shlomovitz, Rotem Semo Oz, Nitzan Kol, Nofar Mor, Ifat Bar-Joseph, Yulia Khavkin, Elisheva Javasky, Pazit Beckerman, Meidad Greenberg, Oded Volovelsky, Yael Borovitz, Miriam Davidovits, Orly Haskin, Hadas Alfandary, Shely Levi, Maital Kaidar, Ze’ev Katzir, Avital Angel-Korman, Rachel Becker-Cohen, Efrat Ben-Shalom, Adi Leiba, Eytan Mor, Amit Dagan, Itai M. Pessach, Danny Lotan, Moshe Shashar, Yair Anikster, Annick Raas-Rothschild, Gideon Rechavi, Benjamin Dekel, Asaf Vivante
Publikováno v:
Pediatric nephrology (Berlin, Germany). 37(7)
Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation chall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875b141e5d54b909a84bb48f2712f22e
https://pubmed.ncbi.nlm.nih.gov/34993602
https://pubmed.ncbi.nlm.nih.gov/34993602
Autor:
Daoud Sheban, Tom Shani, Roey Maor, Alejandro Aguilera-Castrejon, Nofar Mor, Bernardo Oldak, Merav D. Shmueli, Avital Eisenberg-Lerner, Jonathan Bayerl, Jakob Hebert, Sergey Viukov, Guoyun Chen, Assaf Kacen, Vladislav Krupalnik, Valeriya Chugaeva, Shadi Tarazi, Alejandra Rodríguez-delaRosa, Mirie Zerbib, Adi Ulman, Solaiman Masarwi, Meital Kupervaser, Yishai Levin, Efrat Shema, Yael David, Noa Novershtern, Jacob H. Hanna, Yifat Merbl
Publikováno v:
Molecular Cell
The fidelity of the early embryonic program is underlined by tight regulation of the chromatin. Yet, how the chromatin is organized to prohibit the reversal of the developmental program remains unclear. Specifically, the totipotency-to-pluripotency t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c036166ee316ee27bcff7be488f5c8a8
Autor:
Leehee Weinberger, Dalit Ben-Yosef, Rada Massarwa, Sergey Viukov, Shay Geula, Shahd Ashouokhi, Ohad Gafni, Hadar Amir, Yael Kalma, Alejandro Aguilera-Castrejon, Vladislav Krupalnik, Jacob H. Hanna, Noa Novershtern, Mirie Zerbib, Tom Shani, Segev Naveh Tassa, Muneef Ayyash, Jonathan Bayerl, Yair S. Manor, Emilie Wildschutz, Shadi Tawil, Daoud Sheban, Nir Livnat, Lior Lasman, Nofar Mor, Shadi Tarazi, Varda Rotter, Suhair Hanna, Bernardo Oldak
Publikováno v:
Cell Stem Cell
Summary Isolating human MEK/ERK signaling-independent pluripotent stem cells (PSCs) with naive pluripotency characteristics while maintaining differentiation competence and (epi)genetic integrity remains challenging. Here, we engineer reporter system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58483142ce464c44c83fe99989fc4865
https://pubmed.ncbi.nlm.nih.gov/33915080
https://pubmed.ncbi.nlm.nih.gov/33915080
Autor:
Sergey Viukov, Ohad Gafni, Shay Geula, Nofar Mor, Jacob H. Hanna, Alejandro Aguilera-Castrejon, Noa Novershtern, Shadi Tawil, Suhair Hanna, Lior Lasman, Shadi Tarazi, Yair S. Manor, Yael Kalma, Bernardo Oldak, Tom Shani, Krupalnik, Nir Livnat, Daoud Sheban, Leehee Weinberger, Jonathan Bayerl, Hadar Amir, Mirie Zerbib, Dalit Ben-Yosef, Muneef Ayyash
Different conditions have been devised to isolate MEK/ERK signalling independent human naïve pluripotent stem cells (PSCs) that are distinct from conventional primed PSCs and better correspond to pre-implantation developmental stages. While the naï
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f84b29ff33eed17405ea621010435d4b
https://doi.org/10.1101/2020.05.23.112433
https://doi.org/10.1101/2020.05.23.112433
