Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics
Sign Up to like & getrecommendations! Published in 2020 at "Cell Reports"
DOI: 10.1016/j.celrep.2020.108323
Abstract: Summary We meta-analyze amyotrophic lateral sclerosis (ALS) genome-wide association study (GWAS) data of European and Chinese populations (84,694 individuals). We find an additional significant association between rs58854276 spanning ACSL5-ZDHHC6 with ALS (p = 8.3 ×… read more here.
Keywords: genome wide; genetics; weight loss; disease genetics ... See more keywords
Crohn's Disease: Genetics Update.
Sign Up to like & getrecommendations! Published in 2017 at "Gastroenterology clinics of North America"
DOI: 10.1016/j.gtc.2017.05.002
Abstract: Since the discovery of the first Crohn's disease (CD) gene NOD2 in 2001, 140 genetic loci have been found in whites using high-throughput genome-wide association studies. Several genes influence the CD subphenotypes and treatment response.… read more here.
Keywords: medicine; genetics update; genetics; disease genetics ... See more keywords
PiER: web-based facilities tailored for genetic target prioritisation harnessing human disease genetics, functional genomics and protein interactions
Sign Up to like & getrecommendations! Published in 2022 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkac379
Abstract: Abstract Integrative prioritisation promotes translational use of disease genetic findings in target discovery. I report ‘PiER’ (http://www.genetictargets.com/PiER), web-based facilities that support ab initio and real-time genetic target prioritisation through integrative use of human disease genetics,… read more here.
Keywords: human disease; disease; disease genetics; prioritisation ... See more keywords
Parkinson's Disease Genetics and Pathophysiology.
Sign Up to like & getrecommendations! Published in 2021 at "Annual review of neuroscience"
DOI: 10.1146/annurev-neuro-100720-034518
Abstract: Parkinson's disease (PD) is a common neurodegenerative disorder characterized by degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in Lewy bodies. PD is caused by a combination of environmental factors and… read more here.
Keywords: genetics; disease genetics; disease; parkinson disease ... See more keywords
Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032075
Abstract: Celiac disease is an autoimmune disease primarily affecting the small intestine that is caused by the ingestion of gluten in genetically susceptible individuals. The development of celiac disease is based on a complex immune response… read more here.
Keywords: celiac disease; disease; disease genetics; genetics pathogenesis ... See more keywords
Parkinson’s Disease: From Genetics and Epigenetics to Treatment, a miRNA-Based Strategy
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24119547
Abstract: Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, characterized by an initial and progressive loss of dopaminergic neurons of the substantia nigra pars compacta via a potentially substantial contribution from protein aggregates,… read more here.
Keywords: parkinson disease; strategy; disease genetics; treatment ... See more keywords