Cargando…
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
BACKGROUND: Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple variants associated with sporadic PD were discovered via association studies. METHODS: We studied the...
Autores principales: | Bobbili, Dheeraj Reddy, Banda, Peter, Krüger, Rejko, May, Patrick |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476273/ https://www.ncbi.nlm.nih.gov/pubmed/32054687 http://dx.doi.org/10.1136/jmedgenet-2019-106316 |
Ejemplares similares
-
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
por: Serpieri, Valentina, et al.
Publicado: (2023) -
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
por: Cao, Xuanye, et al.
Publicado: (2021) -
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
por: Yigit, Gökhan, et al.
Publicado: (2022) -
Identification of a spontaneously arising variant affecting thermotaxis behavior in a recombinant inbred Caenorhabditis elegans line
por: Yeon, Jihye, et al.
Publicado: (2023) -
Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression
por: Deng, Xiao, et al.
Publicado: (2019)