Results 21 to 30 of about 151,372 (221)
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
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Biochemical Analysis of a Missense Mutation in Aceruloplasminemia [PDF]
Journal of Biological Chemistry, 2002 Aceruloplasminemia is an inherited neurodegenerative disease characterized by parenchymal iron accumulation secondary to loss-of-function mutations in the ceruloplasmin gene. To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined.
Nathan E. Hellman +3 more
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2014, 137 (10), pp.2657-2663, 2020 Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv +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
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Phenylketonuria missense mutations in the Mediterranean
Genomics, 1991 Two missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of an Italian phenylketonuria (PKU) patient. Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) at amino acid 281 of the protein.
R. Longhi +8 more
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PI3K: Missense mutation motivates malignancy [PDF]
Cancer Biology & Therapy, 2004 Commentary to: The PIK3CA Gene is Mutated with High Frequency in Human Breast Cancers Kurtis E. Bachman, Pedram Argani, Yardena Samuels, Natalie Silliman, Janine Ptak, Steve Szabo, Hiroyuki Konishi, Bedri Karakas, Brian G. Blair, Clarence Lin, Brock A. Peters, Victor E.
Valerie S. Hawthorne, Dihua Yu
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AHDC1 missense mutations in Xia-Gibbs syndrome
Human Genetics and Genomics Advances, 2021 Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals have been diagnosed with XGS worldwide.
Michael M. Khayat +22 more
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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
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