Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Chromosome instability syndrome"'
Autor:
Antonio M. Lerario, Alexsandra C. Malaquias, Mariana F A Funari, AM Leal, Bruna L Freire, Thais Kataoka Homma, Elvira Deolinda Rodrigues Pereira Velloso, Alexander A. L. Jorge
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Background Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8be956f2aeab0bf84f2b80e150bd2f3
https://doi.org/10.1016/j.ejmg.2017.11.003
https://doi.org/10.1016/j.ejmg.2017.11.003
Publikováno v:
Endocrine-Related Cancer. 23:T1-T17
Maintaining genomic integrity is essential to preserve normal cellular physiology and to prevent the emergence of several human pathologies including cancer. The breast cancer susceptibility gene 2 (BRCA2, also known as the Fanconi anemia (FA) comple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd98582418a3ff88f94fb7c95203426
https://doi.org/10.1530/erc-16-0297
https://doi.org/10.1530/erc-16-0297
Autor:
Yossi Shiloh
Publikováno v:
Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fc3513a62652c3cd682cf692fa3c320
https://doi.org/10.4267/2042/69014
https://doi.org/10.4267/2042/69014
Autor:
Yossi Shiloh
Publikováno v:
Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb8a13bd5b760f01af6618c259d1afc2
https://doi.org/10.4267/2042/68260
https://doi.org/10.4267/2042/68260
Autor:
Michael G. Brown, Helen J. Lawce
Publikováno v:
The AGT Cytogenetics Laboratory Manual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::240dac8ca3be7e7c36f639a3cc4ad442
https://doi.org/10.1002/9781119061199.ch3
https://doi.org/10.1002/9781119061199.ch3
Akademický článek
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Autor:
Isabel Malheiro, Beatriz Porto, José Barbot, Carla Gonçalves, José Rueff, Jorge Gaspar, R. Sousa
Publikováno v:
Cell Proliferation. 43:573-578
Objectives: Fanconi anaemia (FA) is a cancer-prone chromosome instability syndrome characterized by hypersensitivity to DNA cross-linking agents, such as diepoxybutane (DEB). Previous studies have shown that normal red blood cells (RBC) can protect c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8ecc80300c5b0e4e7f9ab5bf9263a80
https://doi.org/10.1111/j.1365-2184.2010.00706.x
https://doi.org/10.1111/j.1365-2184.2010.00706.x
Autor:
Valeria Naim, Filippo Rosselli
Publikováno v:
Cell Cycle. 8:2907-2912
Fanconi anemia (FA) is a chromosome instability syndrome characterized by progressive bone marrow failure and cancer proneness. The proteins mutated in FA constitute the so-called FANC/BRCA pathway, involved in DNA replication and damage response. Ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1523656782b9c29dbf58d6dada971c9
https://doi.org/10.4161/cc.8.18.9538
https://doi.org/10.4161/cc.8.18.9538
Publikováno v:
bchm. 389:1327-1332
Fanconi anemia is a fatal, hereditary chromosome instability syndrome of early childhood with progressive pancytopenia and cancer-proneness. Hypersensitivity to alkylating agents points to DNA repair inefficiency. Excess reactive oxygen intermediates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f07463ea17cbc9dc6d11b50bc88acd7
https://doi.org/10.1515/bc.2008.151
https://doi.org/10.1515/bc.2008.151
Autor:
F. Lo Curto, D. Caufin, L. Gargantini, L. Minoli, Simonetta Lambiase, Paola Maraschio, Diletta Peretti, Orsetta Zuffardi
Publikováno v:
Scopus-Elsevier
Chromosome analysis in a 31-year-old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa2da0ab5c3b1d7d70e869a2907e478
https://doi.org/10.1111/j.1399-0004.1986.tb01892.x
https://doi.org/10.1111/j.1399-0004.1986.tb01892.x