Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042478 | PMC |
| http://dx.doi.org/10.1016/j.ajhg.2019.11.014 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cell-type-resolved genetic regulatory variation shapes inflammatory bowel disease risk.
medRxiv
June 2025
Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Most genetic variants associated with complex diseases lie in non-coding regions, complicating efforts to identify effector genes and relevant cell types. Here, we map cis-eQTLs across 2.2 million single cells from blood and intestinal biopsies of 421 individuals, including 125 with inflammatory bowel disease (IBD).
View Article and Find Full Text PDFAssociation of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.
Front Neurosci
June 2025
Department of Cell and Molecular Biology, Tulane University, New Orleans, LA, United States.
Background: Human genetic studies have linked loss-of-function variants in Zinc Finger MIZ-Type Containing 1 (ZMIZ1) to a spectrum of neurodevelopmental disorders (NDDs), such as intellectual disability (ID), autism spectrum disorders (ASD), and attention-deficit/hyperactivity disorder (ADHD). Recently, multiple studies have reported ZMIZ1 variants in patients with NDDs, in some cases providing detailed phenotypic descriptions of the carriers. However, how ZMIZ1 variants may contribute to the phenotypic variability of carriers and the different phenotypic manifestations of NDDs has not been explored.
View Article and Find Full Text PDFGenome-wide association analysis identifies APOE as a mitophagy modifier in Lewy body disease.
Alzheimers Dement
April 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Introduction: Phosphorylated ubiquitin (p-S65-Ub) is generated during PINK1-PRKN mitophagy as a specific marker of mitochondrial damage. Despite the widespread deposition of p-S65-Ub in aged and diseased human brain, the genetic contribution to its accumulation remains unclear.
Methods: To identify novel mitophagy regulators, we performed a genome-wide association study using p-S65-Ub level as a quantitative trait in 1012 autopsy-confirmed Lewy body disease (LBD) samples.
Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.
Hum Mol Genet
May 2025
Medical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Objective: This study was aimed to identify a rare complex rearrangement and assist prenatal counseling.
Method: Mate-pair sequencing (MPseq) combined with karyotypes, copy number variants sequencing and whole exome sequencing was used to provide accurate chromosome breakpoints and assist prenatal diagnosis for a mentally retarded pregnant woman.
Result: MPseq indicated a complex rearrangement involved 25 breakpoints and fusions, disrupting 6 genes.
Genetic Variants Linked to Opioid Addiction: A Genome-Wide Association Study.
Int J Mol Sci
November 2024
Department of Physics and Astronomy, Clemson University, Clemson, SC 29634, USA.
Opioid use disorder (OUD) affects millions of people worldwide. While it is known that OUD originates from many factors, including social and environmental factors, the role of genetic variants in developing the disease has also been reported. This study aims to investigate the genetic variants associated with the risk of developing OUD upon exposure.
View Article and Find Full Text PDF