Results 211 to 220 of about 260,346 (338)

Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations. [PDF]

open access: yesGenome Med
Zhong X   +12 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

The identification of blood-derived response eQTLs reveals complex effects of regulatory variants on inflammatory and infectious disease risk. [PDF]

open access: yesPLoS Genet
Liefferinckx C   +15 more
europepmc   +1 more source

The HLA-DPB1 locus: Polymorphism and population genetics

open access: yesHuman Immunology, 1994
Begovich, A   +5 more
openaire   +4 more sources

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier   +20 more
wiley   +1 more source

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