Results 11 to 20 of about 4,883 (116)
Functional analysis reveals driver cooperativity and novel mechanisms in endometrial carcinogenesis
EMBO Molecular Medicine, 2023 High‐risk endometrial cancer has poor prognosis and is increasing in incidence. However, understanding of the molecular mechanisms which drive this disease is limited.
Matthew Brown +11 more
doaj +1 more source
ThermoMutDB: a thermodynamic database for missense mutations [PDF]
Nucleic Acids Research, 2020 Abstract Proteins are intricate, dynamic structures, and small changes in their amino acid sequences can lead to large effects on their folding, stability and dynamics. To facilitate the further development and evaluation of methods to predict these changes, we have developed ThermoMutDB, a manually curated database containing >14,
Joicymara S. Xavier +7 more
openaire +5 more sources
Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Pifu-xingbing zhenliaoxue zazhi, 2023 Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO +3 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU +8 more
doaj +1 more source
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
Missense mutations in DYT-TOR1A dystonia [PDF]
Neurology Genetics, 2019 DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years.
Zafar Iqbal +8 more
openaire +3 more sources
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
openaire +2 more sources
Functional Consequences of PRODH Missense Mutations [PDF]
The American Journal of Human Genetics, 2005 PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and ...
Bender, Hans-Ulrich +7 more
openaire +2 more sources
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
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