Results 41 to 50 of about 3,299,410 (331)
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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Science Translational Medicine, 2018 Endothelial cell–stabilizing drugs reverse white matter pathology in a rat model of cerebral small vessel disease. Defeating dysfunction Cerebral small vessel disease (SVD) affects arterioles in the brain, increasing risk of stroke and causing symptoms ...
Rikesh M. Rajani +12 more
semanticscholar +1 more source
High-Efficiency CRISPR/Cas9 Mutagenesis of the white Gene in the Milkweed Bug Oncopeltus fasciatus
Genetics, 2020 In this manuscript, we report that clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 is highly efficient in the hemipteran Oncopeltus fasciatus.
Katie Reding, L. Pick
semanticscholar +1 more source
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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Peripheral Innate Immune Activation Correlates With Disease Severity in GRN Haploinsufficiency
Frontiers in Neurology, 2019 Objective: To investigate associations between peripheral innate immune activation and frontotemporal lobar degeneration (FTLD) in progranulin gene (GRN) haploinsufficiency.Methods: In this cross-sectional study, ELISA was used to measure six markers of ...
Peter A. Ljubenkov +18 more
doaj +1 more source
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
doaj +1 more source
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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Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene
PLoS ONE, 2013 White matter lesions (WML) are clinically relevant since they are associated with strokes, cognitive decline, depression, or epilepsy, but the underlying etiology in young adults without classical risk factors still remains elusive.
Malte Lenders +7 more
semanticscholar +1 more source
CT and MRI findings in infantile vanishing white matter
Radiology Case Reports, 2021 Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age.
Kyle Robbins, BS +5 more
doaj
Insertional DNA and spontaneous mutation at the white locus in Drosophila simulans
Molecular and General Genetics MGG, 1987 A large body of data on molecular analyses of several multiallelic loci in Drosophila melanogaster has demonstrated a high incidence of mobile DNA element insertions among spontaneous mutations. In the sibling species D. simulans, the dispersed, middle repetitive, nomadic sequences are reduced to about one-seventh that of its sibling species (Dowsett ...
Yoshihiro H. Inoue, Masa-Toshi Yamamoto
openaire +4 more sources