منابع مشابه
Fanconi anemia
What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...
متن کاملFrequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملMutated Fanconi anemia pathway in non-Fanconi anemia cancers
An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research. However, there is limited information about the relationship between the mutated FA pathway and the cancer...
متن کاملA multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.
Bloom syndrome (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an elevated risk of cancer. To investigate the mechanism of this disease, we isolated from human HeLa extracts three complexes containing the helicase defective in BS, BLM. Interestingly, one of the complexes, termed BRAFT, also contains five of the Fanconi anemia (FA) complementation gr...
متن کاملAn update on Laron syndrome.
Definition and epidemiology Laron syndrome is a hereditary disease where there is a primary resistance to growth hormone because of a polymorphic molecular defect in the growth hormone receptor. It is clinically and in many biochemical aspects undistinguishable from isolated growth hormone deficiency (IGHD), and is characterised by high circulating growth hormone concentrations and low serum IG...
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ژورنال
عنوان ژورنال: The American Journal of the Medical Sciences
سال: 2017
ISSN: 0002-9629
DOI: 10.1016/j.amjms.2017.02.001