Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China
BMC Musculoskeletal Disorders, 2021 Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene.
Lin Chen +8 more
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Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]
, 2011 Recently, the President’s Cancer Panel [2008-2009] protested that preventive action is not taken when uncertainty exists about potential harm from a chemical, because the US regulatory approach demands that a hazard be incontrovertibly ...
Bernard Friedenson
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Journal of the Georgia Public Health Association, 2017 Background: Triple negative breast cancer (TNBC) is typically aggressive and unresponsive to traditional cancer treatment, and disproportionately affects young and Black women. Approximately 60%-80% of breast cancers in women with the breast cancer gene (
Alissa Berzen, Rana Bayakly
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Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]
, 2019 Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila +11 more
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Brain and Behavior, 2021 The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhibited a range
Pinar Demirayak +10 more
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Large-scale structural alteration of brain in epileptic children with SCN1A mutation
NeuroImage: Clinical, 2017 Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy ...
Yun-Jeong Lee +9 more
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Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w) ) and mottled (mo) plumage phenotypes in the chicken. [PDF]
PLoS ONE, 2014 A mutation that confers white plumage with black eyes was identified in the Minohiki breed of Japanese native chicken (Gallus gallus domesticus). The white plumage, with a few partially pigmented feathers, was not associated with the tyrosinase gene, and
Keiji Kinoshita +8 more
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Frontiers in Cardiovascular Medicine, 2022 IntroductionGenomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature.
Santiago Cadena-Ullauri +8 more
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Regulating repression : roles for the Sir4 N-terminus in linker DNA protection and stabilization of epigenetic states [PDF]
, 2012 The Gasser laboratory is supported by the Novartis Research Foundation and the EU training network Nucleosome 4D. SK was supported by an EMBO long-term fellowship, a Schrodinger fellowship from the FWF, and the Swiss SystemsX.ch initiative/C-CINA; HCF by
Ferreira, Helder C. +8 more
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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]
, 2003 BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F. +5 more
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