Germline mutation: <i>de novo</i> mutation in reproductive lineage cells
نویسندگان
چکیده
منابع مشابه
Elevated germline mutation rate in teenage fathers
Men age and die, while cells in their germline are programmed to be immortal. To elucidate how germ cells maintain viable DNA despite increasing parental age, we analysed DNA from 24 097 parents and their children, from Europe, the Middle East and Africa. We chose repetitive microsatellite DNA that mutates (unlike point mutations) only as a result of cellular replication, providing us with a na...
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Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in...
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BACKGROUND While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer. Both patients were resistant to anthracycline therapy, resembl...
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Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...
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M astocytosis (MIM 154800) is a group of rare disorders which have in common an abnormal accumulation of mast cells in specific organs, including gastrointestinal tract, bone marrow, liver, spleen, lymph nodes, and skin, which is the most frequently affected organ. Based on the pattern of involvement, cutaneous mastocytosis (CM) is classified into solitary mastocytoma, urticaria pigmentosa, tel...
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ژورنال
عنوان ژورنال: Genes & Genetic Systems
سال: 2019
ISSN: 1341-7568,1880-5779
DOI: 10.1266/ggs.18-00055