Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jordan Prahl"'
Autor:
Jordan Prahl, Gerhard A. Coetzee
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Genome-wide association studies have consistently shown that the alpha-synuclein locus is significantly associated with Parkinson’s disease. The mechanism by which this locus modulates the disease pathology and etiology remains largely under-invest
Externí odkaz:
https://doaj.org/article/dcbcb6904ca44e1792bc0f1b9cbb7013
Publikováno v:
Neurobiology of Disease, Vol 114, Iss , Pp 53-64 (2018)
In genome-wide association studies of complex diseases, many risk polymorphisms are found to lie in non-coding DNA and likely confer risk through allele-dependent differences in gene regulatory elements. However, because distal regulatory elements ca
Externí odkaz:
https://doaj.org/article/6a2cfec1199e409b94f45885fbc4ba2d
Autor:
Edwin J C van der Schans, Steven E. Pierce, Jordan Prahl, Trevor A. Tyson, Alix Booms, Gerhard A. Coetzee
Publikováno v:
npj Parkinson's Disease, Vol 6, Iss 1, Pp 1-5 (2020)
NPJ Parkinson's Disease
NPJ Parkinson's Disease
Genetic risk for complex diseases very rarely reflects only Mendelian-inherited phenotypes where single-gene mutations can be followed in families by linkage analysis. More commonly, a large set of low-penetrance, small effect-size variants combine t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e4999c15be5de26147bb0f022398759
http://link.springer.com/article/10.1038/s41531-020-00125-y
http://link.springer.com/article/10.1038/s41531-020-00125-y
Publikováno v:
Molecular and cellular neurosciences. 119
As researchers grapple with the mechanisms and implications of alpha-synuclein (α-syn) in neuropathology, it is often forgotten that the function(s) of α-syn in healthy cells remain largely elusive. Previous work has relied on observing α-syn loca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc2479615cc15a98fa29f5a674aa8b0
https://pubmed.ncbi.nlm.nih.gov/35093507
https://pubmed.ncbi.nlm.nih.gov/35093507
SUMMARYOne of the most significant Parkinson’s disease (PD) risk variants, rs356182, is located at the PD-associated locus near the alpha-synuclein encoding gene, SNCA. SNCA-proximal variants, including rs356182, are thought to function in PD via a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa172e5fb06d8fac01cc8a045f104292
https://doi.org/10.1101/2021.07.06.451330
https://doi.org/10.1101/2021.07.06.451330
Publikováno v:
Neurobiology of Disease, Vol 114, Iss, Pp 53-64 (2018)
In genome-wide association studies of complex diseases, many risk polymorphisms are found to lie in non-coding DNA and likely confer risk through allele-dependent differences in gene regulatory elements. However, because distal regulatory elements ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb5a8e685c2a7b8892fe03f15844db4
https://pubmed.ncbi.nlm.nih.gov/29486295
https://pubmed.ncbi.nlm.nih.gov/29486295