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Novel clinical, molecular and bioinformatics insights into the genetic background of autism
Novel clinical, molecular and bioinformatics insights into the genetic background of autism
Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of...
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children
Heterotaxy syndrome (HTX) is caused by aberrant left–right patterning early in embryonic development, which results ...
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants
CBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is ...
Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing
Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing
Bicuspid aortic valve (BAV) is the most common congenital heart defect in human beings, with an estimated prevalence in th...
Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis
Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis
Thyroid eye disease (TED) is the most common orbital pathology that occurs in up to 50% of patients with Graves’ dis...
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Human angiotensin-converting enzyme 2 (ACE2), a type I transmembrane receptor physiologically acting as a carboxypeptidase...
Maternal obesity alters methylation level of cytosine in CpG island for epigenetic inheritance in fetal umbilical cord blood
Maternal obesity alters methylation level of cytosine in CpG island for epigenetic inheritance in fetal umbilical cord blood
Over the past few decades, global maternal obesity prevalence has rapidly increased. This condition may induce long-lastin...
On the relationship between tripartite motif-containing 22 single-nucleotide polymorphisms and COVID-19 infection severity
On the relationship between tripartite motif-containing 22 single-nucleotide polymorphisms and COVID-19 infection severity
The tripartite motif containing (TRIM)-22 participates in innate immune responses and exhibits antiviral activities. The p...
SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects
SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects
The detoxification of very long-chain and branched-chain fatty acids and the metabolism of cholesterol to form bile acids ...
Expanding ACMG variant classification guidelines into a general framework
Expanding ACMG variant classification guidelines into a general framework
The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogeni...
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants
The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. We aimed to unders...
Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1
Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin-1 pr...
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders
High-cost, time-consuming and complex processes of several current approaches limit the use of noninvasive prenatal diagno...
Epigenetics may characterize asymptomatic COVID-19 infection
Epigenetics may characterize asymptomatic COVID-19 infection
RT-PCR is the foremost clinical test for diagnosis of COVID-19. Unfortunately, PCR-based testing has limitations and may n...
A review of deep learning applications in human genomics using next-generation sequencing data
A review of deep learning applications in human genomics using next-generation sequencing data
Genomics is advancing towards data-driven science. Through the advent of high-throughput data generating technologies in h...
RNA modification-related variants in genomic loci associated with body mass index
RNA modification-related variants in genomic loci associated with body mass index
Genome-wide association studies (GWASs) have identified hundreds of loci for body mass index (BMI), but functional variant...
Alternative transcription start sites contribute to acute-stress-induced transcriptome response in human skeletal muscle
Alternative transcription start sites contribute to acute-stress-induced transcriptome response in human skeletal muscle
More than half of human protein-coding genes have an alternative transcription start site (TSS). We aimed to investigate t...
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing
Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routi...
Genetic etiology and clinical challenges of phenylketonuria
Genetic etiology and clinical challenges of phenylketonuria
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, a...
Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures
Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures
Both genomics- and proteomics-based investigations have identified several essential genes, proteins, and pathways that ma...
From COVID to fibrosis: lessons from single-cell analyses of the human lung
From COVID to fibrosis: lessons from single-cell analyses of the human lung
The increased resolution of single-cell RNA-sequencing technologies has led to major breakthroughs and improved our unders...
COVID-19 2022 update: transition of the pandemic to the endemic phase
COVID-19 2022 update: transition of the pandemic to the endemic phase
COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the curr...
Genomic supremacy: the harm of conflating genetic ancestry and race
Genomic supremacy: the harm of conflating genetic ancestry and race
Recent studies have reignited the tinderbox of debate surrounding the use of race and ancestry in medicine. These controve...
Integrative analysis of multi-omics data to detect the underlying molecular mechanisms for obesity in vivo in humans
Integrative analysis of multi-omics data to detect the underlying molecular mechanisms for obesity in vivo in humans
Obesity is a complex, multifactorial condition in which genetic play an important role. Most of the systematic studies cur...
Cross talk between RNA modification writers and tumor development as a basis for guiding personalized therapy of gastric cancer
Cross talk between RNA modification writers and tumor development as a basis for guiding personalized therapy of gastric cancer
Gastric cancer (GC) shows high metastasis and low survival. RNA modification writers play critical roles in tumor developm...
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis
Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pu...
The role of m6A methylation in osteosarcoma biological processes and its potential clinical value
The role of m6A methylation in osteosarcoma biological processes and its potential clinical value
Osteosarcoma (OS) is the most common primary malignant bone tumor in children and young adults and has a poor prognosis. R...