Results 1 to 10 of about 1,866,513 (309)
The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]
, 2013 Background We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease.
A Hodgkinson +29 more
core +13 more sources
mBio, 2022 The relationship between spatiotemporal distribution of HIV-1 proviruses and their transcriptional activity is not well understood. To elucidate the intranuclear positions of transcriptionally active HIV-1 proviruses, we utilized an RNA fluorescence in ...
Ryan C. Burdick +5 more
doaj +1 more source
POLG gene mutation. Clinico-neuropathological study
Folia Neuropathologica, 2021 We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and
Sylwia Tarka +9 more
doaj +1 more source
Unilateral Renal Atrophy Due to GREB1L Gene Mutation: a Case Report and Literature Review [PDF]
Zhongguo quanke yixue, 2023 Renal agenesis and hypodysplasia (RAH) are major congenital anomalies of the kidney and urinary tract that often cause chronic kidney disease in children. Genetic factors are closely related to the pathogenesis of RAH.
SUN Tao, PENG Yingchao, SHI Zhuo, GAO Chunlin, XIA Zhengkun
doaj +1 more source
Algorithms, 2021 Genetic Algorithms are stochastic optimization methods where solution candidates, complying to a specific problem representation, are evaluated according to a predefined fitness function.
Jalal Al-Afandi, András Horváth
doaj +1 more source
Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives [PDF]
International Journal of Ophthalmology, 2016 Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations.
Ze-Nan Lin, Jie Chen, Hong-Ping Cui
doaj +1 more source
Mutational signatures are jointly shaped by DNA damage and repair
Nature Communications, 2020 Recent research has shown that mutational signatures reflective of the history of a cancer can be detected in a cancer genome. Here, using whole genome sequencing of DNA repair deficient and proficient nematodes exposed to genotoxins, the authors show ...
Nadezda V. Volkova +10 more
doaj +1 more source
MATERNAL AND FETAL COMPLICATIONS OCCURRING IN HEREDITARY THROMBOPHILIA [PDF]
Romanian Journal of Pediatrics, 2017 Objective. To identify qualitative and quantitative changes involving coagulation factors engaged in maternal and fetal complications, to determine the level of correlation between them, and to highlight the involvement of hereditary thrombophilia among ...
Janina-Georgiana Nacea +7 more
doaj +1 more source
Clinical Medicine Insights: Oncology, 2023 Background: The B-type rafkinase (BRAF) V600E gene mutation plays an important role in the pathogenesis, diagnosis, and prognosis of thyroid carcinoma. This study was conducted to investigate the rate of the BRAF V600E mutation, the relationships between
Tri Bui Dang Minh +15 more
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A case of micropenis caused by compound heterozygote mutations in luteinizing hormone/choriogonadotropin receptor (LHCGR) [PDF]
Jichu yixue yu linchuang, 2022 Objective To investigate the pathogenic gene mutations and clinical characteristics in a patient with compound heterozygote gene mutations in luteinizing hormone/choriogonadotropin receptor (LHCGR) gene.
YANG Yu-fan, ZHAO Ya-ling, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng
doaj +1 more source