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Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis
Recently, several rare variants of SPTLC1 were identified as disease cause for juvenile amyotrophic lateral sclerosis (ALS...
Pharmacy students’ attitudes and intentions of pursuing postgraduate studies and training in pharmacogenomics and personalised medicine
Pharmacy students’ attitudes and intentions of pursuing postgraduate studies and training in pharmacogenomics and personalised medicine
Pharmacists’ contribution to pharmacogenomics (PGx) implementation in clinical practice is vital, but a great propor...
Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China
Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China
G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants ...
Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case–control study
Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case–control study
Single-nucleotide polymorphisms (SNPs) and DNA methylation are crucial regulators of essential hypertension (EH). Amyloid ...
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identifie...
Relationships between circulating metabolites and facial skin aging: a Mendelian randomization study
Relationships between circulating metabolites and facial skin aging: a Mendelian randomization study
Blood metabolites are important to various aspects of our health. However, currently, there is little evidence about the r...
Comprehensive analysis of cuproptosis-related long noncoding RNA for predicting prognostic and diagnostic value and immune landscape in colorectal adenocarcinoma
Comprehensive analysis of cuproptosis-related long noncoding RNA for predicting prognostic and diagnostic value and immune landscape in colorectal adenocarcinoma
Cuproptosis, as a copper-induced mitochondrial cell death, has attracted extensive attention recently, especially in cance...
Computational network analysis of host genetic risk variants of severe COVID-19
Computational network analysis of host genetic risk variants of severe COVID-19
Genome-wide association studies have identified numerous human host genetic risk variants that play a substantial role in ...
Controlling the confounding effect of metabolic gene expression to identify actual metabolite targets in microsatellite instability cancers
Controlling the confounding effect of metabolic gene expression to identify actual metabolite targets in microsatellite instability cancers
The metabolome is the best representation of cancer phenotypes. Gene expression can be considered a confounding covariate ...
Association between interleukin-10 gene polymorphisms (rs1800871, rs1800872, and rs1800896) and severity of infection in different SARS-CoV-2 variants
Association between interleukin-10 gene polymorphisms (rs1800871, rs1800872, and rs1800896) and severity of infection in different SARS-CoV-2 variants
Polymorphisms in the interleukin-10 (IL10) gene have been linked to the severity of the patients infected with the viral i...
Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes
Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes
Long-read sequencing technologies have the potential to overcome the limitations of short reads and provide a comprehensiv...
A crowdsourcing database for the copy-number variation of the Spanish population
A crowdsourcing database for the copy-number variation of the Spanish population
Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population...
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy
The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been p...
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought...
Global distribution of functionally important CYP2C9 alleles and their inferred metabolic consequences
Global distribution of functionally important CYP2C9 alleles and their inferred metabolic consequences
Genetic variability in the cytochrome P450 CYP2C9 constitutes an important predictor for efficacy and safety of various co...
Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population
Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population
Protein kinase C delta (PRKCD) and caspase recruitment domain family member 9 (CARD9) are genes involved in B and T cell a...
Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo
Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo
While transcription factor (TF) regulation is known to play an important role in osteoblast development, differentiation, ...
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution
Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, hi...
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its hig...
Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy
Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy
RNA methylation is a widely known post-transcriptional regulation which exists in many cancer and immune system diseases. ...
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging
Aging affects the incidence of diseases such as cancer and dementia, so the development of biomarkers for aging is an impo...
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases
Clinical exome sequencing (CES) provides a comprehensive and effective analysis of relevant disease-associated genes in a ...
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, includin...
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong–Mein-related lineage and biological adaptation history in Southwest China
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong–Mein-related lineage and biological adaptation history in Southwest China
Fine-scale genetic structure of ethnolinguistically diverse Chinese populations can fill the gap in the missing diversity ...
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations
Germline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 (gBRCA1/2) are associated with elevated risk of br...
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel
At present, the hereditary hearing loss homepage, ( https://hereditaryhearingloss.org/ ), includes 258 deafness genes and ...
Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA
Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA
Blood plasma, one of the most studied liquid biopsies, contains various molecules that have biomarker potential for cancer...
Circulating miR-320a-3p and miR-483-5p level associated with pharmacokinetic–pharmacodynamic profiles of rivaroxaban
Circulating miR-320a-3p and miR-483-5p level associated with pharmacokinetic–pharmacodynamic profiles of rivaroxaban
Novel biomarkers for personalizing anticoagulation remain undetermined. We aimed to investigate the association of plasma ...
Correction: Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility
Correction: Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility
Ning Yuan Lee and Melissa Hum these authors contributed equallyDivision of Cellular and Molecular Research, Humphrey Oei I...
Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci
Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci
Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpin...
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