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12 results on '"Rahat, Dolev"'

2. UV-Protection Timer Controls Linkage between Stress and Pigmentation Skin Protection Systems

Author

Malcov-Brog, Hagar, Alpert, Ayelet, Golan, Tamar, Parikh, Shivang, Nordlinger, Alice, Netti, Francesca, Sheinboim, Danna, Dror, Iris, Thomas, Laetitia, Cosson, Camille, Gonen, Pinchas, Stanevsky, Yury, Brenner, Ronen, Perluk, Tomer, Frand, Jacob, Elgavish, Sharona, Nevo, Yuval, Rahat, Dolev, Tabach, Yuval, Khaled, Mehdi, Shen-Orr, Shai S., and Levy, Carmit

Published
2018
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5. SHLD2/FAM35A co‐operates with REV7 to coordinate DNA double‐strand break repair pathway choice

Author

Findlay, Steven, Heath, John, Luo, Vincent M, Malina, Abba, Morin, Théo, Coulombe, Yan, Djerir, Billel, Li, Zhigang, Samiei, Arash, Simo‐Cheyou, Estelle, Karam, Martin, Bagci, Halil, Rahat, Dolev, Grapton, Damien, Lavoie, Elise G, Dove, Christian, Khaled, Husam, Kuasne, Hellen, Mann, Koren K, Klein, Kathleen Oros, Greenwood, Celia M, Tabach, Yuval, Park, Morag, Côté, Jean‐Francois, Masson, Jean‐Yves, Maréchal, Alexandre, and Orthwein, Alexandre

Published
2018
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7. Multi-omics data integration analysis identifies the spliceosome as a key regulator of DNA double-strand break repair

Author

Sherill-Rofe, Dana, primary, Raban, Oded, additional, Findlay, Steven, additional, Rahat, Dolev, additional, Unterman, Irene, additional, Samiei, Arash, additional, Yasmeen, Amber, additional, Kaiser, Zafir, additional, Kuasne, Hellen, additional, Park, Morag, additional, Foulkes, William D, additional, Bloch, Idit, additional, Zick, Aviad, additional, Gotlieb, Walter H, additional, Tabach, Yuval, additional, and Orthwein, Alexandre, additional

Published
2022
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8. Mapping global and local coevolution across 600 species to identify novel homologous recombination repair genes

Author

Sherill-Rofe, Dana, primary, Rahat, Dolev, additional, Findlay, Steven, additional, Mellul, Anna, additional, Guberman, Irene, additional, Braun, Maya, additional, Bloch, Idit, additional, Lalezari, Alon, additional, Samiei, Arash, additional, Sadreyev, Ruslan, additional, Goldberg, Michal, additional, Orthwein, Alexandre, additional, Zick, Aviad, additional, and Tabach, Yuval, additional

Published
2019
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9. MYORG is associated with recessive primary familial brain calcification

Author

Arkadir, David, primary, Lossos, Alexander, additional, Rahat, Dolev, additional, Abu Snineh, Muneer, additional, Schueler-Furman, Ora, additional, Nitschke, Silvia, additional, Minassian, Berge A., additional, Sadaka, Yair, additional, Lerer, Israela, additional, Tabach, Yuval, additional, and Meiner, Vardiella, additional

Published
2018
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10. SHLD 2/ FAM 35A co‐operates with REV 7 to coordinate DNA double‐strand break repair pathway choice

Author

Findlay, Steven, primary, Heath, John, additional, Luo, Vincent M, additional, Malina, Abba, additional, Morin, Théo, additional, Coulombe, Yan, additional, Djerir, Billel, additional, Li, Zhigang, additional, Samiei, Arash, additional, Simo‐Cheyou, Estelle, additional, Karam, Martin, additional, Bagci, Halil, additional, Rahat, Dolev, additional, Grapton, Damien, additional, Lavoie, Elise G, additional, Dove, Christian, additional, Khaled, Husam, additional, Kuasne, Hellen, additional, Mann, Koren K, additional, Klein, Kathleen Oros, additional, Greenwood, Celia M, additional, Tabach, Yuval, additional, Park, Morag, additional, Côté, Jean‐Francois, additional, Masson, Jean‐Yves, additional, Maréchal, Alexandre, additional, and Orthwein, Alexandre, additional

Published
2018
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11. FAM35A co-operates with REV7 to coordinate DNA double-strand break repair pathway choice

Author

Findlay, Steven, primary, Heath, John, additional, Luo, Vincent M., additional, Malina, Abba, additional, Morin, Théo, additional, Djerir, Billel, additional, Li, Zhigang, additional, Samiei, Arash, additional, Simo-Cheyou, Estelle, additional, Karam, Martin, additional, Bagci, Halil, additional, Rahat, Dolev, additional, Grapton, Damien, additional, Lavoie, Elise G., additional, Dove, Christian, additional, Khaled, Husam, additional, Kuasne, Hellen, additional, Mann, Koren K., additional, Klein, Kathleen Oros, additional, Greenwood, Celia M., additional, Tabach, Yuval, additional, Park, Morag, additional, Côté, Jean-Francois, additional, Maréchal, Alexandre, additional, and Orthwein, Alexandre, additional

Published
2018
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12. MYORG is associated with recessive primary familial brain calcification.

Author

Arkadir, David, Lossos, Alexander, Rahat, Dolev, Abu Snineh, Muneer, Schueler‐Furman, Ora, Nitschke, Silvia, Minassian, Berge A., Sadaka, Yair, Lerer, Israela, Tabach, Yuval, and Meiner, Vardiella

Subjects
ASPARTIC acid, CYTOSKELETAL proteins, FALSE discovery rate, PROTEIN binding, ION transport (Biology)
Abstract

Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease. Methods: Whole exome sequencing and Sanger‐based segregation analysis were used to identify possible disease causing mutations. Mutation pathogenicity was validated by structural protein modeling. Functional associations between the candidate gene, MYORG, and genes previously implicated in the disease were examined through phylogenetic profiling. Results: We studied nine affected individuals from two unrelated families of Middle Eastern origin. The median age of symptom onset was 29.5 years (range 21–57 years) and dysarthria was the most common presenting symptom. We identified in the MYORG gene, a homozygous c.1233delC mutation in one family and c.1060_1062delGAC mutation in another. The first mutation results in protein truncation and the second in deletion of a highly conserved aspartic acid that is likely to disrupt binding of the protein with its substrate. Phylogenetic profiling analysis of the MYORG protein sequence suggests co‐evolution with a number of calcium channels as well as other proteins related to regulation of anion transmembrane transport (False Discovery Rate, FDR < 10−8) and with PDCD6IP, a protein interacting with PDGFRβ which is known to be involved in the disease. Interpretation: MYORG mutations are linked to a recessive form of primary familial brain calcification. This association was recently described in patients of Chinese ancestry. We suggest the possibility that MYORG mutations lead to calcification in a PDGFRβ‐related pathway. [ABSTRACT FROM AUTHOR]

Published
2019
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