Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function
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چکیده
منابع مشابه
interpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولGATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.
Dilated cardiomyopathy (DCM), the most prevalent form of primary heart muscle disease, is the third most common cause of heart failure and the most frequent reason for cardiac transplantation. Mounting evidence has demonstrated that genetic risk factors are crucial in the pathogenesis of DCM. However, DCM is genetically heterogeneous, and the genetic basis of DCM in a large majority of cases re...
متن کاملI-50: Embryo Loss Due to Epigenetic Anomaliesin the Male Germ Line: Role of Estrogen
Background: To investigate if aberrant methylation and expression of imprinted genes of the Igf2-H19 locus in the spermatozoa and embryos could be a paternal epigenetic factor involved in early embryo loss To elucidate the role of estrogen in acquisition of the imprinting at the Igf2-H19 locus during spermatogenesis Materials and Methods: Adult male rats of Holtzman strain were administered tam...
متن کاملPenetrance of mutations in the familial Wilms tumor gene FWT1.
Wilms tumor is an embryonal kidney cancer that affects one in 10 000 children. Epidemiologic studies have shown that 1%–3% of cases of Wilms tumor are familial and that a predisposition to Wilms tumor is probably caused by rare germline mutations acting in a dominant fashion (1). The risks of Wilms tumor conferred by mutations in these genes are poorly characterized, with estimates of their pen...
متن کاملLoss-of-function thrombospondin-1 mutations in familial pulmonary hypertension.
Most patients with familial pulmonary arterial hypertension (FPAH) carry mutations in the bone morphogenic protein receptor 2 gene (BMPR2). Yet carriers have only a 20% risk of disease, suggesting that other factors influence penetrance. Thrombospondin-1 (TSP1) regulates activation of TGF-β and inhibits endothelial and smooth muscle cell proliferation, pathways coincidentally altered in pulmona...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1997
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.94.22.12036