ORCID Profile
0000-0003-3145-880X
Current Organisations
Hong Kong University of Science and Technology
,
UCL Queen Square Institute of Neurology,University College London
,
The University of Hong Kong
,
Hong Kong Center for Neurodegenerative Diseases
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Publisher: Wiley
Date: 15-09-2018
DOI: 10.1002/ANA.25308
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 14-09-2016
Publisher: Elsevier BV
Date: 10-2010
Publisher: American Association for the Advancement of Science (AAAS)
Date: 22-06-2018
Abstract: Consistent classification of neuropsychiatric diseases is problematic because it can lead to misunderstanding of etiology. The Brainstorm Consortium examined multiple genome-wide association studies drawn from more than 200,000 patients for 25 brain-associated disorders and 17 phenotypes. Broadly, it appears that psychiatric and neurologic disorders share relatively little common genetic risk. However, different and independent pathways can result in similar clinical manifestations (e.g., psychosis, which occurs in both schizophrenia and Alzheimer's disease). Schizophrenia correlated with many psychiatric disorders, whereas the immunopathological affliction Crohn's disease did not, and posttraumatic stress syndrome was also largely independent of underlying traits. Essentially, the earlier the onset of a disorder, the more inheritable it appeared to be. Science , this issue p. eaap8757
Publisher: Oxford University Press (OUP)
Date: 24-02-2012
DOI: 10.1093/BRAIN/AWR361
Publisher: Springer Science and Business Media LLC
Date: 17-04-2019
DOI: 10.1038/S41531-019-0076-6
Abstract: Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression and expression-weighted cell-type enrichment together with several brain-related and cell-type-specific genomic annotations to connect human genomic PD findings to specific brain cell types. We found that PD heritability attributable to common variation does not enrich in global and regional brain annotations or brain-related cell-type-specific annotations. Likewise, we found no enrichment of PD susceptibility genes in brain-related cell types. In contrast, we demonstrated a significant enrichment of PD heritability in a curated lysosomal gene set highly expressed in astrocytic, microglial, and oligodendrocyte subtypes, and in LoF-intolerant genes, which were found highly expressed in almost all tested cellular subtypes. Our results suggest that PD risk loci do not lie in specific cell types or in idual brain regions, but rather in global cellular processes detectable across several cell types.
Publisher: Elsevier BV
Date: 12-2021
Publisher: Springer Science and Business Media LLC
Date: 24-04-2013
DOI: 10.1038/EJHG.2013.59
Location: United Kingdom of Great Britain and Northern Ireland
Location: No location found
No related grants have been discovered for Kin Ying Mok.