Results 71 to 80 of about 3,646,381 (383)
TDP‐43 A315T mutation in familial motor neuron disease
Annals of Neurology, 2008 To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to investigate TDP‐43 as a candidate gene in familial cases of motor neuron disease.
M. Gitcho +16 more
semanticscholar +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
doaj +1 more source
arXiv, 2023 A mutation cycle is a cycle in a graph whose vertices are labeled by the quivers in a given mutation class and whose edges correspond to single mutations. For any fixed $n\ge 4$, we describe arbitrarily long mutation cycles involving $n$-vertex quivers.
arxiv
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
Mice Transgenic for KitV620A: Recapitulation of Piebaldism but not Progressive Depigmentation Seen in Humans with this Mutation [PDF]
, 2006 Piebaldism is an autosomal dominant genetic pigmentary disorder, characterized by congenital white hair and patches located on the forehead, anterior trunk, and extremities.
Aoki, Hitomi +5 more
core +1 more source
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative (GENFI) cohort [PDF]
, 2023 Biomarkers that can predict disease progression in individuals with genetic frontotemporal dementia are urgently needed. We aimed to identify whether baseline MRI-based grey and white matter abnormalities are associated with different clinical ...
Afonso, Sónia +150 more
core
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
FEBS Letters, EarlyView.Low‐density lipoprotein receptor‐related protein 6 (LRP6) is a key receptor for the Wnt antagonist Dickkopf1 (DKK1). DKK1 protein expression is induced in a bleomycin (BLM)‐induced lung injury model. We show that DKK1 induces proinflammatory and profibrotic genes in lung fibroblasts.
Eun‐Ah Sung +6 more
wiley +1 more source