Výsledky vyhledávání - "Revital, Shemer"

Akademický článek

Endoplasmic reticulum-translocation is essential for APOL1 cellular toxicity

Autor: Etty Kruzel-Davila, Ira Bavli-Kertselli, Ayala Ofir, Amber M. Cheatham, Revital Shemer, Eid Zaknoun, Sergiy Chornyy, Orly Tabachnikov, Shamara E. Davis, Atanu K. Khatua, Karl Skorecki, Waldemar Popik

Publikováno v: iScience, Vol 25, Iss 1, Pp 103717- (2022)

Summary: Two variants at the APOL1 gene, encoding apolipoprotein L1, account for more than 70% of the increased risk for chronic kidney disease in individuals of African ancestry. While the initiating event for APOL1 risk variant cell injury remains

Externí odkaz: https://doaj.org/article/49c1ce3f9fd0482b80f87bbe2a296490

Zobrazit plný text záznamu

Akademický článek

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

Autor: Shirley Pollack, Israel Eisenstein, Adi Mory, Tamar Paperna, Ayala Ofir, Hagit Baris-Feldman, Karin Weiss, Nóra Veszeli, Dorottya Csuka, Revital Shemer, Fabian Glaser, Zoltán Prohászka, Daniella Magen

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Background and ObjectivesAtypical hemolytic uremic syndrome (aHUS) is mostly attributed to dysregulation of the alternative complement pathway (ACP) secondary to disease-causing variants in complement components or regulatory proteins. Hereditary aHU

Externí odkaz: https://doaj.org/article/74756f326a914ed0a514e0494ac08732

Zobrazit plný text záznamu

De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease

Autor: Daniel Melamed, Yuval Nov, Assaf Malik, Michael B. Yakass, Evgeni Bolotin, Revital Shemer, Edem K. Hiadzi, Karl L. Skorecki, Adi Livnat

Publikováno v: Genome Research. 32:488-498

Although it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here, we describe a method to measure the origination rates of target mutations at target base posit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0886de8b2e778b3eabfb7a7b24b7029
https://doi.org/10.1101/gr.276103.121

Zobrazit plný text záznamu

De novo mutation rates at the single-mutation resolution in a human

Autor: Daniel, Melamed, Yuval, Nov, Assaf, Malik, Michael B, Yakass, Evgeni, Bolotin, Revital, Shemer, Edem K, Hiadzi, Karl L, Skorecki, Adi, Livnat

Publikováno v: Genome research. 32(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2db46cf82306f3cc0c3e8bb52dc2b0b6
https://pubmed.ncbi.nlm.nih.gov/35031571

Zobrazit plný text záznamu

De novomutation rates at the single-mutation resolution in a humanHBBgene-region associated with adaptation and genetic disease

Autor: Adi Livnat, Karl Skorecki, Daniel Melamed, Revital Shemer, Edem K. Hiadzi, Evgeni Bolotin, Yuval Nov, Michael Bright Yakass, Assaf Malik

While it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here we describe a method to measure the origination rates of target mutations at target base positions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c07176830337b3225db8f69ca4cca75f
https://doi.org/10.1101/2021.05.24.443729

Zobrazit plný text záznamu

G1 is the major APOL1 risk allele for hypertension-attributed nephropathy in Central Africa

Autor: Revital Shemer, Roger Wumba, Walter G. Wasser, Pierre Mutantu, Etty Kruzel-Davila, Nazaire M. Nseka, Justine B. Bukabau, Jeannine Luse, Nestor M Pakasa, Etienne Cavalier, Eric P. Cohen, Vieux M. Mokoli, Anat Reiner-Benaim, Ernest Kiswaya Sumaili, Jean Robert R. Makulo, Geoffrey Boner, Meyer Lifschitz, Karl Skorecki

Publikováno v: Clinical Kidney Journal. 12:188-195

Background Sub-Saharan Africans exhibit a higher frequency of chronic kidney disease (CKD) than other populations. In this study, we sought to determine the frequency of apolipoprotein L1 (APOL1) genotypes in hypertension-attributed CKD in Kinshasa,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::08f768e68b2d79cd880c89ef3c9d73ed
https://doi.org/10.1093/ckj/sfy073

Zobrazit plný text záznamu

APOL1–Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes

Autor: Maya Schuldiner, Ayala Ofir, Ira Bavli-Kertselli, Adi Salzberg, Daniel Kornitzer, Walter G. Wasser, Pazit Oren-Giladi, Zvonimir Marelja, Daniella Magen, Matias Simons, Ilona Darlyuk-Saadon, Eid Zaknoun, Revital Shemer, Etty Kruzel-Davila, Karl Skorecki

Publikováno v: Journal of the American Society of Nephrology. 28:1117-1130

APOL1 harbors C-terminal sequence variants (G1 and G2), which account for much of the increased risk for kidney disease in sub-Saharan African ancestry populations. Expression of the risk variants has also been shown to cause injury to podocytes and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06d1b6e3fb6fa27f32334bc0253d4bfa
https://doi.org/10.1681/asn.2016050546

Zobrazit plný text záznamu

Association of APOL1 Genotype with Renal Histology among Black HIV-Positive Patients Undergoing Kidney Biopsy

Autor: Michael Kuperman, Derek M. Fine, Michelle M. Estrella, Jeffrey B. Kopp, Karl Skorecki, Matthew C. Foy, Cheryl A. Winkler, Mohamed G. Atta, Walter G. Wasser, Lorraine C. Racusen, Gregory M. Lucas, Revital Shemer

Publikováno v: Clinical Journal of the American Society of Nephrology. 11:262-270

Background and objectives Prior studies have shown that the APOL1 risk alleles are associated with a greater risk of HIV-associated nephropathy and FSGS among blacks who are HIV positive. We sought to determine whether the APOL1 high–risk genotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208c8ddba80fb31be6220c40de87281f
https://doi.org/10.2215/cjn.07490715

Zobrazit plný text záznamu

G1 is the major

Autor: Ernest K, Sumaili, Revital, Shemer, Etty, Kruzel-Davila, Eric P, Cohen, Pierre N, Mutantu, Justine B, Bukabau, Jean Robert R, Makulo, Vieux M, Mokoli, Jeannine L, Luse, Nestor M, Pakasa, Etienne, Cavalier, Roger D, Wumba, Anat, Reiner-Benaim, Geoffrey, Boner, Meyer, Lifschitz, Nazaire M, Nseka, Karl, Skorecki, Walter G, Wasser

Publikováno v: Clinical Kidney Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d98634a6d152a20f2044fc97ca9d9510
https://pubmed.ncbi.nlm.nih.gov/30976395

Zobrazit plný text záznamu

High Population Frequencies of APOL1 Risk Variants Are Associated with Increased Prevalence of Non-Diabetic Chronic Kidney Disease in the Igbo People from South-Eastern Nigeria

Autor: Macaulay A C Onuigbo, Emmanuel Nna, Chinwuba K. Ijoma, Saharon Rosset, Obinna Onodugo, Uchenna Ijoma, Chinwe J Chukwuka, Revital Shemer, EB Arodiwe, Cajetan C Onyedum, J. Okoye, Elena Feigin, Walter G. Wasser, Ngozi A Ifebunandu, Etty D. Kruzel, Karl Skorecki, Ifeoma Ulasi, Shay Tzur

Publikováno v: Nephron Clinical Practice. 123:123-128

Background: Continental Africa is facing an epidemic of chronic kidney disease (CKD). APOL1 risk variants have been shown to be strongly associated with an increased risk for non-diabetic kidney disease including HIV nephropathy, primary non-monogeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d278736e4c7f337b9c41199530238e38
https://doi.org/10.1159/000353223

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání