نتایج جستجو برای: fanconi anemia
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Inherited bone marrow failure syndromes are disorders of hematopoiesis that mostly encountered in childhood. Taking the basisfrom genetics, they characterized by pancytopenia, increased risk developing myelodysplastic syndrome and malignancy.Extrahematopoietic presentations observed often addition to symptoms related defective (also known asbone failure). The biology, clinical features, managem...
Fanconi anemia (FA) is an autosomal recessive disorder caused by defects in at least eight distinct genes FANCA, B, C, D1, D2, E, F and G. The clinical phenotype of all FA complementation groups is similar and is characterized by progressive bone marrow failure, cancer proneness and typical birth defects. The principal cellular phenotype is hypersensitivity to DNA damage, particularly interstra...
Emergency granulopoiesis is a component of the innate immune response that is induced in response to infectious or inflammatory challenge. It is characterized by the rapid expansion and differentiation of granulocyte/monocyte progenitor (GMP) populations, which is due in part to a shortened S-phase of the cell cycle. We found that IRF8 (also known as ICSBP), an interferon regulatory transcripti...
The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop a...
Computational analysis of the Fanconi anemia (FA) complementation group A protein suggests that it contains a peroxidase domain. FA proteins may be part of a general mechanism that protects cells from oxidative damage.
Prepublished online November 2, 2004; Schindler, Helmut Hanenberg, Shirley V Hodgson, Christopher G Mathew and Jordi Surralles Angeles Dasi, Jesus M Estella, Arturo Munoz, Juan J Ortega, Johan de Winter, Hans Joenje, Detlev Elsa Callen, Jose A Casado, Marc D Tischkowitz, Juan A Bueren, Amadeu Creus, Ricard Marcos, prevalence of Fanconi anemia in gypsy families from Spain underlies the world hig...
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