11,575 Result(s)
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Article
The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive accumulation of liver fat and a risk of develo** hepatocellular ...
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Article
Open AccessFine map** of candidate effector genes for heart rate
An elevated resting heart rate (RHR) is associated with increased cardiovascular mortality. Genome-wide association studies (GWAS) have identified > 350 loci. Uniquely, in this study we applied genetic fine-ma...
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Article
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells
Unilateral moyamoya disease (MMD) represents a distinct subtype characterised by occlusive changes in the circle of Willis and abnormal vascular network formation. However, the aetiology and pathogenesis of un...
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R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores
Polygenic risk scores (PRSs) enable early prediction of disease risk. Evaluating PRS performance for binary traits commonly relies on the area under the receiver operating characteristic curve (AUC). However, ...
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Article
Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias
Hypospadias refers to the abnormal position of the male urethral orifice, which not only leads to urination disorder but also causes sexual dysfunction in adulthood. However, the complex and diverse pathogenic...
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Open AccessUnraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach
Endometriosis is characterized by the ectopic proliferation of endometrial cells, posing considerable diagnostic and therapeutic challenges. Our study investigates AGPAT4’s involvement in endometriosis pathoge...
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Article
Open AccesslncRNA CDKN2B-AS1 regulates collagen expression
The long noncoding RNA CDKN2B-AS1 harbors a major coronary artery disease risk haplotype, which is also associated with progressive forms of the oral inflammatory disease periodontitis as well as myocardial in...
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Open AccessGenetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes
NF1 microdeletion syndrome, accounting for 5–11% of NF1 patients, is caused by a deletion in the NF1 region and it is generally characterized by a severe phenotype. Although 70% of NF1 microdeletion patients pres...
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Open AccessThe detection of a strong episignature for Chung–Jansen syndrome, partially overlap** with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that enc...
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Article
STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score
High-throughput whole genome sequencing (WGS) is clinically used in finding single nucleotide variants and small indels. Several bioinformatics tools are developed to call short tandem repeats (STRs) copy numb...
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Article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome
Germline gain of function variants in the oncogene ABL1 cause congenital heart defects and skeletal malformations (CHDSKM) syndrome. Whether a corresponding ABL1 deficiency disorder exists in humans remains unkno...
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Article
Open AccessCharacterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ...
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Article
Open AccessAdvances in long-read single-cell transcriptomics
Long-read single-cell transcriptomics (scRNA-Seq) is revolutionizing the way we profile heterogeneity in disease. Traditional short-read scRNA-Seq methods are limited in their ability to provide complete trans...
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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Most rare disease patients (75–50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding dis...
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Open AccessLoss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a missense and a frameshift variant in a compound heterozygou...
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Article
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient and user-friendly tools that simplify variant analysis. Although multiple tools exist,...
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Open AccessThe natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled...
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Article
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci
Systemic Lupus Erythematosus (SLE) is an autoimmune disease with heterogeneous manifestations, including neurological and psychiatric symptoms. Genetic association studies in SLE have been hampered by insuffic...
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Cross-ancestry genetic architecture and prediction for cholesterol traits
While cholesterol is essential, a high level of cholesterol is associated with the risk of cardiovascular diseases. Genome-wide association studies (GWASs) have proven successful in identifying genetic variant...
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Article
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl−/H+ exchanger ClC-4, and CLCN4 pathogenic variants frequent...
