Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
Multiomics study of nonalcoholic fatty liver disease
G Sveinbjornsson, MO Ulfarsson, RB Thorolfsdottir… - Nature …, 2022 - nature.com
Nonalcoholic fatty liver (NAFL) and its sequelae are growing health problems. We performed
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
A multi-tissue atlas of regulatory variants in cattle
Abstract Characterization of genetic regulatory variants acting on livestock gene expression
is essential for interpreting the molecular mechanisms underlying traits of economic value …
is essential for interpreting the molecular mechanisms underlying traits of economic value …
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
Ageing-associated changes in transcriptional elongation influence longevity
C Debès, A Papadakis, S Grönke, Ö Karalay, LS Tain… - Nature, 2023 - nature.com
Physiological homeostasis becomes compromised during ageing, as a result of impairment
of cellular processes, including transcription and RNA splicing,,–. However, the molecular …
of cellular processes, including transcription and RNA splicing,,–. However, the molecular …