Results 241 to 250 of about 200,238 (297)

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes. [PDF]

Intern Med
Watanabe H, Takahashi Y, Namiki T, Nakagawa R, Inui T, Ishikawa H, Wakamatsu M, Muramatsu H, Sakamoto T.   +8 more
europepmc   +1 more source

Predicting somatic mutation origins in cell-free DNA by semi-supervised GAN models. [PDF]

Heliyon
Palizban F, Sarbishegi M, Kavousi K, Mehrmohamadi M.   +3 more
europepmc   +1 more source

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts. [PDF]

NPJ Genom Med
Mallawaarachchi AC, Hort Y, Wedd L, Lo K, Senum S, Toumari M, Chen W, Utsiwegota M, Mawson J, Leslie S, Laurence J, Anderson L, Snelling P, Salomon R, Rangan GK, Furlong T, Shine J, Cowley MJ.   +17 more
europepmc   +1 more source

Exploration of oncogenic cooperation between germline variation and somatic mutation in prostate cancer progression

Kołodyńska ZA, Hanssen KM, Geyer FH, Knott MML, Aljakouch K, Ritter A, Delipetrou A, Krijgsveld J, Mitchell-Velasquez E, Asangani I, Will R, Müller-Nurasyid M, Strauch K, Buchner A, Cidre-Aranaz F, Grünewald TG.   +15 more
europepmc   +1 more source

Somatic mutation landscapes at single-molecule resolution

Nature, 2021
Somatic mutations drive the development of cancer and may contribute to ageing and other diseases1,2. Despite their importance, the difficulty of detecting mutations that are only present in single cells or small clones has limited our knowledge of ...
Federico Abascal, Luke M R Harvey, Emily Mitchell   +2 more
exaly   +3 more sources

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Somatic Mutations and Alzheimer’s Disease

Journal of Alzheimer's Disease, 2022
Alzheimer’s disease (AD) represents a global health challenge, with an estimated 55 million people suffering from the non-curable disease across the world. While amyloid-β plaques and tau neurofibrillary tangles in the brain define AD proteinopathy, it has become evident that diverse coding and non-coding regions of the genome may significantly ...
Jocelyn, Downey, Jacqueline C K, Lam, Victor O K, Li, Illana, Gozes   +3 more
openaire   +2 more sources

Somatic Mutation and Aging

Annals of the New York Academy of Sciences, 1998
ABSTRACT: A key prediction of the somatic mutation theory of aging is that there is an invariant relationship between life span and the number of random mutations. A number of studies at a number of gene loci have shown that somatic mutations of a variety of types accumulate with age.
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Somatic mutations and proteins

Proceedings of the Royal Society of London. Series B. Biological Sciences, 1966
Abstract A large body of data has now been accumulated concerning the ways in which heritable mutations can affect protein structure. Such mutations are usually presumed to arise in the germ line, and are studied by progeny analyses of various types.
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Somatic mutation theory

Journal of Toxicology and Environmental Health, 1980
The evidence is reviewed that supports the role of genetic lesions in carcinogenesis; such lesions may be initiating events in the multistep process leading to clinically detectable tumor. Other possible manifestations of alterations in the hereditary material of somatic cells are discussed; DNA damage may lead to benign tumors responsible for ...
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Somatic mutation and memory

Current Opinion in Immunology, 1993
The germinal center plays a crucial role in the development of the memory B cell. The repertoire of the antigen-specific B cell is shaped in this microenvironment. Self-specific B cells escaping normal regulation may develop into high affinity pathogenic Ig-producing cells.
openaire   +2 more sources