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The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank
The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank
Disease comorbidities and longer-term complications, arising from biologically related associations across phenotypes, can...
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands
The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology betwe...
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated ...
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, ...
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens
Neurodegenerative diseases present complex genetic architectures, reflecting a continuum from monogenic to oligogenic and ...
Integrating single-cell RNA-seq and bulk RNA-seq to construct a neutrophil prognostic model for predicting prognosis and immune response in oral squamous cell carcinoma
Integrating single-cell RNA-seq and bulk RNA-seq to construct a neutrophil prognostic model for predicting prognosis and immune response in oral squamous cell carcinoma
Oral squamous cell carcinoma (OSCC) is an aggressive malignancy with poor prognosis. Neutrophil infiltration has been asso...
Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progression
Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progression
Atherosclerosis (AS) is a major cause of cardiovascular diseases and neutrophil extracellular traps (NETs) may be actively...
Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden
Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden
Consanguineous marriage is a major contributing factor for many genetic diseases and a burden to the healthcare system and...
Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia
Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia
Kapoor NS, Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG, et al. Multigene Panel Testing Detects Equal Rates ...
An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy
An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy
A significant proportion of cardiomyopathy patients remain genetically unsolved. Our aim was to use the large genomes coho...
The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysis
The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysis
Recently, extensive research has been conducted on the relationship between aspirin gene polymorphisms and aspirin resista...
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants
Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the ...
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease
The clinical diagnosis of Fabry Disease (FD) can be challenging due to the clinical heterogeneity, especially in females. ...
Integration of single-cell sequencing and drug sensitivity profiling reveals an 11-gene prognostic model for liver cancer
Integration of single-cell sequencing and drug sensitivity profiling reveals an 11-gene prognostic model for liver cancer
Liver cancer has a high global incidence, particularly in East Asia. Early detection difficulties lead to poor prognosis. ...
Advancing understanding of human variability through toxicokinetic modeling, in vitro-in vivo extrapolation, and new approach methodologies
Advancing understanding of human variability through toxicokinetic modeling, in vitro-in vivo extrapolation, and new approach methodologies
The merging of physiology and toxicokinetics, or pharmacokinetics, with computational modeling to characterize dosimetry h...
SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies
SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies
In developed countries, Newborn Screening (NBS) programs aim to detect treatable yet clinically silent disorders. The sele...
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Genetic generalized epilepsy (GGE) including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epi...
Ralationship between polymorphisms and diplotypes of HLA-G 3’UTR and fetuses with abnormal chromosomes or unexplained pregnancy loss (UPL)
Ralationship between polymorphisms and diplotypes of HLA-G 3’UTR and fetuses with abnormal chromosomes or unexplained pregnancy loss (UPL)
Human leukocyte antigen G (HLA-G) plays a crucial role in pregnancy. Pregnancy loss (PL) is caused by a variety of causes,...
Analysis of public perceptions on the use of artificial intelligence in genomic medicine
Analysis of public perceptions on the use of artificial intelligence in genomic medicine
Next generation sequencing has led to the creation of large pools of genomic data with analysis rather than data generatio...
Global transcriptome modulation by xenobiotics: the role of alternative splicing in adaptive responses to chemical exposures
Global transcriptome modulation by xenobiotics: the role of alternative splicing in adaptive responses to chemical exposures
Xenobiotic exposures can extensively influence the expression and alternative splicing of drug-metabolizing enzymes, inclu...
Identification and characterization of novel ferroptosis-related genes in acute myocardial infarction
Identification and characterization of novel ferroptosis-related genes in acute myocardial infarction
Acute myocardial infarction (AMI) is a leading cause of death and morbidity worldwide. Ferroptosis, a form of regulated ce...
Methyltransferase-like 3 represents a prospective target for the diagnosis and treatment of kidney diseases
Methyltransferase-like 3 represents a prospective target for the diagnosis and treatment of kidney diseases
Kidney disease is marked by complex pathological mechanisms and significant therapeutic hurdles, resulting in high morbidi...
Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates
Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates
Current effective breast cancer treatment options have severe side effects, highlighting a need for new therapies. Drug re...
Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene
Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently...
Development of oxidative stress- and ferroptosis-related prognostic signature in gastric cancer and identification of CDH19 as a novel biomarker
Development of oxidative stress- and ferroptosis-related prognostic signature in gastric cancer and identification of CDH19 as a novel biomarker
Ferroptosis is a unique mode of cell death that is iron-dependent and associated with oxidative stress and lipid peroxidat...
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data
This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- a...
Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to ...
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms
FLNC gene variants have predominantly been reported in adult populations with cardiomyopathies, and early-onset cases are ...
Mapping the evolving trend of research on leukocyte telomere length: a text-mining study
Mapping the evolving trend of research on leukocyte telomere length: a text-mining study
Substantial evidence indicates that measuring leukocyte telomere length (LTL) is a useful tool that may be considered as a...
Computational approaches to investigate the relationship between periodontitis and cardiovascular diseases for precision medicine
Computational approaches to investigate the relationship between periodontitis and cardiovascular diseases for precision medicine
Periodontitis is a highly prevalent inflammatory illness that leads to the destruction of tooth supporting tissue structur...
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