Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Adeeb NaserEddin, Nathalie Asherie, Hagar Mor-Shaked, Polina Stepensky, Bella Shadur, Orly Elpeleg, Shlomit Kfir-Erenfeld, Yael Dinur Schejter, Taly Dubnikov
Publikováno v:
European Journal of Human Genetics
The GTPase of immunity-associated proteins (GIMAPs) are a family of genes believed to contribute to lymphocyte development, signaling, and apoptosis, thus playing an important role in immune system homeostasis. While models of gene derangement have b
Autor:
Michael Assa, Fadia Zagairy, Ronen Spiegel, Orly Elpeleg, Ziva Ben Neriah, Nitzan Biran, Amnon Harel, Boris Fichtman, Avraham Shaag, Elena Chervinsky, Yiftah Barsheshet
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature Communications
Nature Communications
Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and p
Autor:
Tzipora C Falik-Zaccai, I-Chen Tu, Atmaja Koorapati, Hagit Baris Feldman, Shiou-Ru Tzeng, Weng Man Chong, Hong-Ling Wang, Hanna Mandel, Ayelet Eran, Hadas Raveh-Barak, Inna Naroditzky, Sung-Tsang Hsieh, Ella Sela, Chih-Wei Chen, Wai Keong Lim, Yousif Nijim, Hung-Wei Kan, Limor Kalfon, Chang-Yu Huang, Orly Elpeleg, Dvora Kidron, Ching-Wen Huang, Zee-Fen Chang, Jung-Chi Liao
Publikováno v:
Proceedings of the National Academy of Sciences. 116:566-574
We report a patient who presented with congenital hypotonia, hypoventilation, and cerebellar histopathological alterations. Exome analysis revealed a homozygous mutation in the initiation codon of the NME3 gene, which encodes an NDP kinase. The initi
Autor:
Iris Fried, Orly Elpeleg, Natalie Orlovetskie, Moshe Kotler, Orly Marcu, Avraham Shaag, Raphael Serruya, Dana G. Wolf, Dhivakar Mani, Aravind Ramanathan, Esther Djian, Polina Stepensky, Alexander Rouvinski, Yiska Weisblum, Nayef Jarrous, Michael Weintraub, Shoshana Revel-Vilk
Publikováno v:
Proc Natl Acad Sci U S A
RNA polymerase (Pol) III has a noncanonical role of viral DNA sensing in the innate immune system. This polymerase transcribes viral genomes to produce RNAs that lead to induction of type I interferons (IFNs). However, the genetic and functional link
Autor:
Bertrand Isidor, Rami Abou Jamra, Virginie Carmignac, Yannis Duffourd, Helio Pedro, Eriko Koshimizu, Maja Hempel, Tobias Bartolomaeus, Martin Chevarin, Floor A. M. Duijkers, Maria J. Guillen Sacoto, Erin Torti, David Geneviève, David J. Harris, Valerie Loik Ramey, Klaske D. Lichtenbelt, Arthur Sorlin, Miriam Maik, Anne Guimier, Paul Kuentz, Tatjana Bierhals, Orly Elpeleg, Yoshiko Murakami, Laurence Faivre, Jean Baptiste Rivière, Jill Clayton-Smith, Laurent Pasquier, Yuichi Abe, Edgard Verdura, Aviva Fattal, Judith St-Onge, Daphné Lehalle, Joerg Betschinger, Krista Sondergaard-Schatz, Laurie Simone, Christa W. Habela, Ivon Cusco, Mieke M. van Haelst, Pierre Vabres, Laurence Duplomb, Magali Avila, Sakoto Miyakate, Koen L.I. van Gassen, Julien Thevenon, Eveline S. J. M. de Bont, Benjamin Cogné, Pia Zacher, Silvana van Koningsbruggen, Thibaud Jouan, Irene Valenzuela, Christel Thauvin-Robinet
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, 57 (12), pp.808-819. ⟨10.1136/jmedgenet-2019-106508⟩
Journal of medical genetics, 57(12):106508, 808-819. BMJ Publishing Group
Lehalle, D, Vabres, P, Sorlin, A, Bierhals, T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, ' De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819 . https://doi.org/10.1136/jmedgenet-2019-106508
Journal of Medical Genetics, 57(12):106508, 808-819. BMJ Publishing Group
Journal of Medical Genetics, 2020, 57 (12), pp.808-819. ⟨10.1136/jmedgenet-2019-106508⟩
Journal of medical genetics, 57(12):106508, 808-819. BMJ Publishing Group
Lehalle, D, Vabres, P, Sorlin, A, Bierhals, T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, ' De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819 . https://doi.org/10.1136/jmedgenet-2019-106508
Journal of Medical Genetics, 57(12):106508, 808-819. BMJ Publishing Group
IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0225469b6c5302fe6a000a5d82d85eb
https://doi.org/10.1136/jmedgenet-2019-106508
https://doi.org/10.1136/jmedgenet-2019-106508
Autor:
Naomi Meeks, Stefan Kindler, Anya Revah-Politi, Alexander P.A. Stegmann, Vinodh Narayanan, Dominique Bonneau, Claudia Schob, Jill A. Rosenfeld, Jennifer E. Posey, Tim M. Strom, LaDonna Immken, Tjitske Kleefstra, Jolanda H. Schieving, Katherine L. Helbig, Estelle Colin, Magalie Barth, Tamar Harel, Matthew J. Huentelman, James R. Lupski, Benjamin Cogné, Han G. Brunner, Yaping Yang, Sébastien Küry, Jenny Morton, Erica H. Gerkes, Keri Ramsey, Marine Tessarech, Zeynep Coban-Akdemir, Shimon Edvardson, Hans-Jürgen Kreienkamp, Nelly Oundjian, Davor Lessel, Christian Kubisch, Thomas Besnard, Jonas Denecke, Orly Elpeleg, Ana M. Claasen, Kelsey Zegar, Mohammad K. Eldomery, Sandra Mercier, Margot R.F. Reijnders, Stéphane Bézieau
Publikováno v:
American Journal of Human Genetics, 101(5), 716-724. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
Contains fulltext : 182457.pdf (Publisher’s version ) (Open Access) DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in D
Autor:
Ann Saada, Sarah Amro, Liza Douiev, Chaya Miller, Asaf Ta-Shma, Maher Shahrour, Orly Elpeleg, Bassam Abu-Libdeh
Publikováno v:
European Journal of Human Genetics. 25:1142-1146
We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was perf
Publikováno v:
neurogenetics. 18:135-139
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellect
Autor:
Asaf Vivante, Nicholas Katsanis, Orly Elpeleg, Tahir N. Khan, Yishay Salem, Erica E. Davis, Jason R. Willer, Pavle Matak, Yair Anikster, Asaf Ta-Shma, Chaim Jalas, Ben Pode-Shakked, Friedhelm Hildebrandt
Publikováno v:
The American Journal of Human Genetics. 100:666-675
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervo
Autor:
Drago Haas, Orly Elpeleg, Laurence Prunetti, Valérie de Crécy-Lagard, Asas Ta-Shma, Simon Edvardson, Jo Marie Bacusmo, Peter C. Dedon, Aiman Arraf, Jennifer Hu
Publikováno v:
European Journal of Human Genetics. 25:545-551
Post-transcriptional tRNA modifications are numerous and require a large set of highly conserved enzymes in humans and other organisms. In yeast, the loss of many modifications is tolerated under unstressed conditions; one exception is the N6-threony