Výsledky vyhledávání - "U, Seligsohn"

Seven novel mutations in the factor XIII A‐subunit gene causing hereditary factor XIII deficiency in 10 unrelated families

Autor: R. Eskaraev, U. Seligsohn, A. Zivelin, Renu Saxena, Meytal Landau, A. Inbal, A. Vysokovsky, N. Rosenberg

Publikováno v: Journal of Thrombosis and Haemostasis. 2:1790-1797

Summary. Background: Hereditary factor (F)XIII deficiency is a rare bleeding disorder mostly due to mutations in FXIII A subunit. Objectives: We studied the molecular basis of FXIII deficiency in patients from 10 unrelated families originating from I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c30d7713c99f7b15a11659749f0b224
https://doi.org/10.1111/j.1538-7836.2004.00908.x

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Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein α IIb β 3 (GPIIb/IIIa) and α v β 3 Receptors Are Not Protected From Atherosclerosis

Autor: O. Shpilberg, B. Coller, U. Seligsohn, D. Harats, I. Rabi, R. Walden, K. Schiller, K.S. Tyrrell

Publikováno v: Circulation. 105:1044-1048

Background — Platelets have been suggested to play a role in the early development of atherosclerosis. As one test of this hypothesis, we assessed whether patients with Glanzmann thrombasthenia who lack platelet glycoprotein α IIb β 3 (GPIIb/IIIa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::99a0192021e2924eccc6c6c7a69aeef2
https://doi.org/10.1161/hc0902.104676

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Mendelian Diseases among Roman Jews: Implications for the Origins of Disease Alleles

Autor: Carole Oddoux, Michael A. Nardi, H Nelson, E Dicave, Harry Ostrer, Khedoudja Nafa, Margaret Karpatkin, H Peretz, Maria Roberta Cilio, C Ditivoli, Daniel L. Kastner, Kyriakie Sarafoglou, Encarna Guillén-Navarro, U Seligsohn, Felicia B. Axelrod, Ivona Aksentijevich, N McCain, C M Clayton, Lucio Luzzatto

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 84:4405-4409

The Roman Jewish community has been historically continuous in Rome since pre-Christian times and may have been progenitor to the Ashkenazi Jewish community. Despite a history of endogamy over the past 2000 yr, the historical record suggests that the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b7e4ffacd4ff5be97d22ced82f531ce
https://doi.org/10.1210/jcem.84.12.6268

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The Human Platelet IIb Gene Is Not Closely Linked to Its Integrin Partner β3

Autor: M.A. Thornton, M. Poncz, M. Korostishevsky, E. Yakobson, S. Usher, U. Seligsohn, H. Peretz

Publikováno v: Blood. 94:2039-2047

IIbb3 integrin is a heterodimeric receptor facilitating platelet aggregation. Both genes are on chromosome 17q21.32. Intergenic distance between them has been reported to be 125 to 260 kilobasepairs (kb) by pulsed-field gel electrophoresis (PFGE)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e1d7f8fd213bb03b01eaefda149cf4d
https://doi.org/10.1182/blood.v94.6.2039.418k27_2039_2047

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Extensive Venous and Arterial Thrombosis Associated With an Inhibitor to Activated Protein C

Autor: Hillel Halkin, Yael C Cohen, U Seligsohn, John H. Griffin, José A. Fernández, Sanford N. Gitel, Aida Inbal, Xiao Xu, Ariella Zivelin, Uri Martinowitz

Publikováno v: Blood. 94:895-901

Activated protein C resistance (APCR) in the absence of alterations in the factor V gene has been observed during pregnancy, in patients on oral contraceptives, in the presence of antiphospholipid antibodies, and in patients with ischemic stroke. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::83e174fc2e6ecfa3250b4fa9d673a639
https://doi.org/10.1182/blood.v94.3.895.415k01_895_901

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Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17

Autor: U Seligsohn, Eng C, S Usher, Barry S. Coller, Deborah L. French, Hava Peretz, Berkowitz R

Publikováno v: British Journal of Haematology. 102:582-587

Glanzmann thrombasthenia is an autosomal recessive bleeding disorder caused by mutations in the genes encoding platelet GPIIb or GPIIIa. Both genes map to chromosome 17q21 and polymorphisms within this chromosomal region have been identified. In the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9e5820039c1eb2ad3559706ec6a25403
https://doi.org/10.1046/j.1365-2141.1998.00798.x

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Could the 185delAG BRCA1 Mutation Be an Ancient Jewish Mutation?

Autor: R B, Bar-Sade, L, Theodor, E, Gak, A, Kruglikova, G, Hirsch-Yechezkel, B, Modan, G, Kuperstein, U, Seligsohn, G, Rechavi, E, Friedman

Publikováno v: European Journal of Human Genetics. 5:413-416

A predominant mutation within the BRCA1 predisposition gene, 185delAG, has been detected in about 1% of the Ashkenazi population, considered a high-risk group for breast and ovarian cancers. We examined 639 unrelated healthy Jews of Iraqi extraction,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69094c4ad4bd51170f2e2af9c07416fe
https://doi.org/10.1159/000484800

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Treatment of inherited platelet disorders

Autor: U, Seligsohn

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 18

For patients affected by severe inherited platelet dysfunctions, e.g. Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome (BSS), platelet transfusion is frequently needed for controlling spontaneous bleeding, and is always needed when trauma oc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79041c281a7a24f177c54060063d00ab
https://pubmed.ncbi.nlm.nih.gov/22726101

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