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
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
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
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort [PDF]
, 2016 Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases.
Autore, Camillo +11 more
core +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
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
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
core +1 more source
GJC2 Missense Mutations Cause Human Lymphedema [PDF]
The American Journal of Human Genetics, 2010 Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema.
Ferrell, Robert E. +8 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
Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]
, 2018 Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo +25 more
core +3 more sources