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Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scalin...
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction
Systematically predicting the effects of mutations on protein fitness is essential for the understanding of genetic diseas...
Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults
Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults
Age-related cataract and hearing difficulties are major sensory disorders that often co-exist in the global-wide elderly a...
Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study
Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study
Male-pattern baldness (MPB) is the most common cause of hair loss in men. It can be categorized into three types: type 2 (...
Profiling the role of m6A effectors in the regulation of pluripotent reprogramming
Profiling the role of m6A effectors in the regulation of pluripotent reprogramming
The N6-methyladenosine (m6A) RNA modification plays essential roles in multiple biological processes, including stem cell ...
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the ChildrenR...
Paternal aging impacts expression and epigenetic markers as early as the first embryonic tissue lineage differentiation
Paternal aging impacts expression and epigenetic markers as early as the first embryonic tissue lineage differentiation
Advanced paternal age (APA) is associated with adverse outcomes to offspring health, including increased risk for neurodev...
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotyp...
Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-conv...
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with ...
Statistical methods for assessing the effects of de novo variants on birth defects
Statistical methods for assessing the effects of de novo variants on birth defects
With the development of next-generation sequencing technology, de novo variants (DNVs) with deleterious effects can be ide...
Cellular and clinical impact of protein phosphatase enzyme epigenetic silencing in multiple cancer tissues
Cellular and clinical impact of protein phosphatase enzyme epigenetic silencing in multiple cancer tissues
Protein Phosphatase Enzymes (PPE) and protein kinases simultaneously control phosphorylation mechanisms that tightly regul...
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investig...
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
To report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the...
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from ...
Altered expression of serum lncRNA CASC2 and miRNA-21-5p in COVID-19 patients
Altered expression of serum lncRNA CASC2 and miRNA-21-5p in COVID-19 patients
Infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19) ...
Protein–protein interaction network-based integration of GWAS and functional data for blood pressure regulation analysis
Protein–protein interaction network-based integration of GWAS and functional data for blood pressure regulation analysis
It is valuable to analyze the genome-wide association studies (GWAS) data for a complex disease phenotype in the context o...
Gene expression analysis reveals diabetes-related gene signatures
Gene expression analysis reveals diabetes-related gene signatures
Diabetes is a spectrum of metabolic diseases affecting millions of people worldwide. The loss of pancreatic β-cell ma...
A broad wastewater screening and clinical data surveillance for virus-related diseases in the metropolitan Detroit area in Michigan
A broad wastewater screening and clinical data surveillance for virus-related diseases in the metropolitan Detroit area in Michigan
Periodic bioinformatics-based screening of wastewater for assessing the diversity of potential human viral pathogens circu...
Causal associations of COVID‐19 on neurosurgical diseases risk: a Mendelian randomization study
Causal associations of COVID‐19 on neurosurgical diseases risk: a Mendelian randomization study
Many researchers have explored the potential association between one neurosurgical disease and coronavirus disease 2019 (C...
Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk
Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk
Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can h...
Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity
Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity
Individual assessment of CYP enzyme activities can be challenging. Recently, the potato alkaloid solanidine was suggested ...
Wastewater-based epidemiology applied at the building-level reveals distinct virome profiles based on the age of the contributing individuals
Wastewater-based epidemiology applied at the building-level reveals distinct virome profiles based on the age of the contributing individuals
Human viruses released into the environment can be detected and characterized in wastewater. The study of wastewater virom...
Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T
Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T
Congenital heart defects (CHDs) are the heart structural malformations present at birth. Septal defects account for 40% of...
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
Mismatch repair (MMR) system is evolutionarily conserved for genome stability maintenance. Germline pathogenic variants (P...