Výsledky vyhledávání - "Sarit Farage-Barhom"

Akademický článek

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas

Autor: Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100813- (2023)

Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberatel

Externí odkaz: https://doaj.org/article/3c9f3c0169a74db9bf2377fbbc142be6

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Akademický článek

ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis

Autor: Adi Zundelevich, Maya Dadiani, Smadar Kahana-Edwin, Amit Itay, Tal Sella, Moran Gadot, Karen Cesarkas, Sarit Farage-Barhom, Efrat Glick Saar, Eran Eyal, Nitzan Kol, Anya Pavlovski, Nora Balint-Lahat, Daniela Dick-Necula, Iris Barshack, Bella Kaufman, Einav Nili Gal-Yam

Publikováno v: Breast Cancer Research, Vol 22, Iss 1, Pp 1-11 (2020)

Abstract Background Emerging mutations in the ESR1 gene that encodes for the estrogen receptor (ER) are associated with resistance to endocrine therapy. ESR1 mutations rarely exist in primary tumors (~ 1%) but are relatively common (10–50%) in meta

Externí odkaz: https://doaj.org/article/712eb58a83c14ab0b367a4027619ff85

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Akademický článek

RNA editing by ADAR1 leads to context-dependent transcriptome-wide changes in RNA secondary structure

Autor: Oz Solomon, Ayelet Di Segni, Karen Cesarkas, Hagit T. Porath, Victoria Marcu-Malina, Orel Mizrahi, Noam Stern-Ginossar, Nitzan Kol, Sarit Farage-Barhom, Efrat Glick-Saar, Yaniv Lerenthal, Erez Y. Levanon, Ninette Amariglio, Ron Unger, Itamar Goldstein, Eran Eyal, Gidi Rechavi

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)

Adenosine deaminase acting on RNA 1 (ADAR1) edits adenosine to inosine. Here the authors, using parallel analysis of RNA secondary structure sequencing, provide evidence that ADAR1 induces sequence-context-dependent RNA secondary structures changes,

Externí odkaz: https://doaj.org/article/135bc3a86dbd4e62a8694058deaacfb0

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Akademický článek

Correction to: ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis

Publikováno v: Breast Cancer Research, Vol 22, Iss 1, Pp 1-2 (2020)

After the publication of the original article [1], we were notified the upper panel of the Fig. 1, where the patients’ codes are listed, was cropped by mistake so the patients 1–8 are repeated.

Externí odkaz: https://doaj.org/article/34e106ef6f9d4542818d091538529c02

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Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

Autor: Amos J. Simon, Jasmine Jacob-Hirsch, Vered Kunik, Ninette Amariglio, Shlomi Constantini, Karen Cesarkas, Michal Yalon, Gideon Rechavi, Erez Y. Levanon, Binyamin A. Knisbacher, Jonathan Roth, Sharon Moshitch-Moshkovitz, Eran Eyal, Moran Gal, Rick Tearle, Chen Dor, Sarit Farage-Barhom

Publikováno v: Cell Research. 28:187-203

Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotranspo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b7132879f0dd7c470a94200bef31d1
https://doi.org/10.1038/cr.2018.8

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RNA editing by ADAR1 leads to context-dependent transcriptome-wide changes in RNA secondary structure

Autor: G. Rechavi, Oz Solomon, Yaniv Lerenthal, Ron Unger, Victoria Marcu-Malina, Ayelet Di Segni, Hagit T. Porath, Erez Y. Levanon, Karen Cesarkas, Nitzan Kol, Ninette Amariglio, Orel Mizrahi, Eran Eyal, Noam Stern-Ginossar, Efrat Glick-Saar, Itamar Goldstein, Sarit Farage-Barhom

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Nature Communications

Adenosine deaminase acting on RNA 1 (ADAR1) is the master RNA editor, catalyzing the deamination of adenosine to inosine. RNA editing is vital for preventing abnormal activation of cytosolic nucleic acid sensing pathways by self-double-stranded RNAs.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f10a55c86cb86840b32c14b3bb151ed
http://link.springer.com/article/10.1038/s41467-017-01458-8

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Correction to: ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis

Autor: Tal Sella, Moran Gadot, Einav Nili Gal-Yam, Bella Kaufman, Sarit Farage-Barhom, Eran Eyal, Nora Balint-Lahat, Nitzan Kol, Smadar Kahana-Edwin, Amit Itay, Iris Barshack, Adi Zundelevich, Karen Cesarkas, Maya Dadiani, Daniela Dick-Necula, Anya Pavlovski, Efrat Glick Saar

Publikováno v: Breast Cancer Research, Vol 22, Iss 1, Pp 1-2 (2020)
Breast Cancer Research : BCR

Background Emerging mutations in the ESR1 gene that encodes for the estrogen receptor (ER) are associated with resistance to endocrine therapy. ESR1 mutations rarely exist in primary tumors (~ 1%) but are relatively common (10–50%) in metastatic, e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0499e71687c84b729d0b1fdb34007b50
http://link.springer.com/article/10.1186/s13058-020-01265-y

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ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis

Publikováno v: Breast Cancer Research : BCR
Breast Cancer Research, Vol 22, Iss 1, Pp 1-11 (2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83eda2ce366ed2e0c13da1deda906c41
https://pubmed.ncbi.nlm.nih.gov/32164744

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Individualized Dynamics in the Gut Microbiota Precede Crohnʼs Disease Flares

Autor: Nina Levhar, Doron Yablecovitch, Marina BenShoshan, Avishay Lahad, M. Bubis, Efrat Glick Saar, Uri Kopylov, Katya Sosnovski, Yael Haberman, Shomron Ben-Horin, Gilat Efroni, Orit Picard, Sandra Neuman, Sarit Farage Barhom, Ayelet Di Segni, Batia Weiss, Rami Eliakim, Adi Lahat, Tzipi Braun

Publikováno v: The American Journal of Gastroenterology

OBJECTIVES Crohn's disease (CD) is a chronic relapsing-remitting gut inflammatory disorder with a heterogeneous unpredictable course. Dysbiosis occurs in CD; however, whether microbial dynamics in quiescent CD are instrumental in increasing the risk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c15ede576bec290debc4fe520c9da23

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A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)

Autor: Nitzan Kol, Yair Anikster, Erez Rechavi, Amos J. Simon, Atar Lev, Ben Pode-Shakked, Ortal Barel, Sarit Farage Barhom, Raz Somech, Eran Eyal

Publikováno v: Journal of Clinical Immunology. 36:801-809

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca14b490f14b21281ad968a3161f8ae
https://doi.org/10.1007/s10875-016-0340-z

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