Results 11 to 20 of about 1,411,801 (296)
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. [PDF]
PLoS Genetics, 2008 The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer ...
Nic Waddell +12 more
doaj +1 more source
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
Proceedings of the National Academy of Sciences of the United States of America, 2018 Significance We report a disease-causing mutation in the β-cell–enriched MAFA transcription factor. Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin-producing neuroendocrine tumors ...
D. Iacovazzo +25 more
semanticscholar +1 more source
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta
European Heart Journal, 2018 Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition.
Thorsteinn Bjornsson +19 more
semanticscholar +1 more source
Journal of Translational Medicine, 2023 Background Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear.
Yiran Zhou +11 more
doaj +1 more source
Molecular Medicine, 2023 Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo +5 more
doaj +1 more source
Nature Neuroscience, 2017 Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter.
Madeleine R. Geisheker +45 more
semanticscholar +1 more source
Scientific Reports, 2022 Anticoagulant rodenticides (AR) remain the most effective chemical substances used to control rodents in order to limit their agricultural and public health damage in both rural and urban environments.
Antoine Rached +6 more
doaj +1 more source
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
BMC Medical Genetics, 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu +6 more
doaj +1 more source
A Newly Identified Missense Mutation in FARS2 Causes Autosomal‐Recessive Spastic Paraplegia
Human Mutation, 2016 Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by spasticity of the lower limbs due to pyramidal tract dysfunction.
Ying Yang +8 more
semanticscholar +1 more source
A missense mutation in ISPD contributes to maintain muscle fiber stability
Poultry Science, 2022 : Background: Livestock and poultry skeletal muscle development was regulated by a variety of genetic factors playing an essential role in this process.
Lijin Guo +10 more
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