2009
DOI: 10.1590/s0100-879x2009000300004
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FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia

Abstract: Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine … Show more

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Cited by 5 publications
(2 citation statements)
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“…Low levels of Fancd2 ubiquitination can be a diagnostic indicator of FA ( Pilonetto et al 2009 ; Liu et al 2013 ) and correlate with shorter time of disease-free survival in the context of sporadic breast cancer ( Feng and Jin 2019 ). Monoubiquitination of vertebrate Fancd2 is sufficient for targeting to chromatin in response to DNA damaging agents such as mitomycin C ( Matsushita et al 2005 ).…”
Section: Discussionmentioning
confidence: 99%
“…Low levels of Fancd2 ubiquitination can be a diagnostic indicator of FA ( Pilonetto et al 2009 ; Liu et al 2013 ) and correlate with shorter time of disease-free survival in the context of sporadic breast cancer ( Feng and Jin 2019 ). Monoubiquitination of vertebrate Fancd2 is sufficient for targeting to chromatin in response to DNA damaging agents such as mitomycin C ( Matsushita et al 2005 ).…”
Section: Discussionmentioning
confidence: 99%
“…A partir das informações fornecidas por E1 e E2 e analisadas pelo Gráfico 1 é possível constatar que a técnica de Western blot surge como um dos métodos mais adotados no período de 2005 a 2009 e que segundo Pilonetto et al (2009), os resultados por esse método envolvendo a biologia molecular corroboram com os dados mundiais em que grupos de complementação de núcleo complexo apresentam grande variedade genética para a AF que incluem mutações em qualquer um dos genes que codificam o complexo central das proteínas (FANCA, B, C, E, F, G, L e M). E também podem pertencer a outros grupos de complementação a serem identificados podendo estarem associados com o complexo central da proteína FANCD2.…”
Section: E6unclassified