Results 251 to 260 of about 1,891,272 (273)

Regulation of transcriptional homeostasis by DNA methylation upon genome duplication in pak choi. [PDF]

open access: yesMol Hortic
Ma M   +9 more
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

The complete mitochondrial genome of <i>Halichoeres margaritaceus</i> (Actinopterygii, Labridae). [PDF]

open access: yesMitochondrial DNA B Resour
Huang X   +7 more
europepmc   +1 more source

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang   +16 more
wiley   +1 more source

Epigenome‐wide association study, meta‐analysis, and multiscore profiling of whole blood in Parkinson's disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives An increasing body of evidence indicates altered DNA methylation in Parkinson's disease, yet the reproducibility and utility of such methylation changes are largely unexplored. We aimed to further elucidate the role of dysregulated DNA methylation in Parkinson's disease and to evaluate the biomarker potential of methylation‐based ...
Ingeborg Haugesag Lie   +4 more
wiley   +1 more source

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz   +9 more
wiley   +1 more source

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