Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Ruti, Parvari"'
Autor:
Sharon Etzion, Raneen Hijaze, Liad Segal, Sofia Pilcha, Dana Masil, Or Levi, Sigal Elyagon, Aviva Levitas, Yoram Etzion, Ruti Parvari
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Plekhm2 is a protein regulating endosomal trafficking and lysosomal distribution. We recently linked a recessive inherited mutation in PLEKHM2 to a familial form of dilated cardiomyopathy and left ventricular non-compaction. These patients
Externí odkaz:
https://doaj.org/article/3520eecd2475472ba0dae59908cd3ce2
Autor:
Nataly Korover, Sharon Etzion, Alexander Cherniak, Tatiana Rabinski, Aviva Levitas, Yoram Etzion, Rivka Ofir, Ruti Parvari, Smadar Cohen
Publikováno v:
Biological Research, Vol 56, Iss 1, Pp 1-19 (2023)
Abstract Dilated cardiomyopathy (DCM) is a primary myocardial disease, leading to heart failure and excessive risk of sudden cardiac death with rather poorly understood pathophysiology. In 2015, Parvari's group identified a recessive mutation in the
Externí odkaz:
https://doaj.org/article/c4eeee91aefa4ae79ba2bdb99f6de49d
Autor:
Aviva Levitas, Emad Muhammad, Yuan Zhang, Isaac Perea Gil, Ricardo Serrano, Nashielli Diaz, Maram Arafat, Alexandra A Gavidia, Michael S Kapiloff, Mark Mercola, Yoram Etzion, Ruti Parvari, Ioannis Karakikes
Publikováno v:
PLoS Genetics, Vol 16, Iss 9, p e1009000 (2020)
Dilated cardiomyopathy (DCM) is a common cause of heart failure and sudden cardiac death. It has been estimated that up to half of DCM cases are hereditary. Mutations in more than 50 genes, primarily autosomal dominant, have been reported. Although r
Externí odkaz:
https://doaj.org/article/d5b2baa88b9047f9b0556780536f082f
Autor:
Maram Arafat, Atif Zeadna, Eliahu Levitas, Iris Har Vardi, Benzion Samueli, Ruth Shaco‐Levy, Salam Dabsan, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Ubiquitin‐Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination leve
Externí odkaz:
https://doaj.org/article/1bf73c8dfb07422f8260b472786990f8
Autor:
Aviva Levitas, Liam Aspit, Neta Lowenthal, David Shaki, Hanna Krymko, Leonel Slanovic, Ronit Yagev, Ruti Parvari
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 8864
Weill–Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including micr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add370439ee3c456ab00ed58e9dd7c79
Autor:
Pierre Majdalani, Uri Yoel, Tayseer Nasasra, Merav Fraenkel, Alon Haim, Neta Loewenthal, Raz Zarivach, Eli Hershkovitz, Ruti Parvari
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 8233
Familial non-medullary thyroid cancer (FNMTC) is a well-differentiated thyroid cancer (DTC) of follicular cell origin in two or more first-degree relatives. Patients typically demonstrate an autosomal dominant inheritance pattern with incomplete pene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::919e93ea790e08144dd13c842c5fbc4a
Autor:
Eitan Lunenfeld, Ruti Parvari, Eliahu Levitas, Maram Arafat, Iris Har Vardi, Shimi Barda, Moran Gershoni, Atif Zeadna, Mahmoud Huleihel, Ron Hauser, Ofer Lehavi, Ali AbuMadighem, Sandra E. Kleiman
Publikováno v:
Eur J Hum Genet
Infertility affects one in six couples, half of which are caused by a male factor. Male infertility can be caused by both, qualitative and quantitative defects, leading to Oligo- astheno-terato-zoospermia (OAT; impairment in ejaculate sperm cell conc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f39efe98f7e66b58b9edc4844e4a5b
https://doi.org/10.1038/s41431-021-00946-2
https://doi.org/10.1038/s41431-021-00946-2
Autor:
Baker Elsana, Ahed Imtirat, Ronit Yagev, Libe Gradstein, Pierre Majdalani, Oren Iny, Ruti Parvari, Erez Tsumi
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(12)
Congenital insensitivity to pain (CIP) is a group of rare genetic disorders with a common characteristic of absent sensation to nociceptive pain. Here we present a series of six patients; three had a novel variant in the PRDM12 gene (group A), and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f896f9907bb6725f1682fa2d8c1f79bb
https://pubmed.ncbi.nlm.nih.gov/36111846
https://pubmed.ncbi.nlm.nih.gov/36111846
Autor:
Liad Segal, Sharon Etzion, Sigal Elyagon, Moran Shahar, Hadar Klapper-Goldstein, Aviva Levitas, Michael S. Kapiloff, Ruti Parvari, Yoram Etzion
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9616
Dedicator of cytokinesis 10 (Dock10) is a guanine nucleotide exchange factor for Cdc42 and Rac1 that regulates the JNK (c-Jun N-terminal kinase) and p38 MAPK (mitogen-activated protein kinase) signaling cascades. In this study, we characterized the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be264deef20da70c95e621f77ad5de42
https://pubmed.ncbi.nlm.nih.gov/36077014
https://pubmed.ncbi.nlm.nih.gov/36077014
Autor:
Bassam Abu-Libdeh, Abdulsalam Abu-Libdeh, Eran Lavi, Yaniv Faingelernt, Alon Haim, Sara Abu-Rmaileh Amro, Raz Zarivach, David Zangen, Amal Abedrabbo, Ruti Parvari, Eli Hershkovitz
Publikováno v:
American Journal of Medical Genetics Part A. 185:1033-1038
Aldosterone synthase deficiency (ASD) is a rare potentially life-threatening genetic disorder that usually presents during infancy due to pathogenic variants in the CYP11B2 gene. Knowledge about CYP11B2 variants in the Arab population is scarce. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce8a2a2c22bda325339b4c7ad17a88e8
https://doi.org/10.1002/ajmg.a.62056
https://doi.org/10.1002/ajmg.a.62056