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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...
Implementing differentially pigmented skin models for predicting drug response variability across human ancestries
Implementing differentially pigmented skin models for predicting drug response variability across human ancestries
Persistent racial disparities in health outcomes have catalyzed legislative reforms and heightened scientific focus recent...
Fast and accurate DNASeq variant calling workflow composed of LUSH toolkit
Fast and accurate DNASeq variant calling workflow composed of LUSH toolkit
Whole genome sequencing (WGS) is becoming increasingly prevalent for molecular diagnosis, staging and prognosis because of...
Leveraging large-scale datasets and single cell omics data to develop a polygenic score for cisplatin-induced ototoxicity
Leveraging large-scale datasets and single cell omics data to develop a polygenic score for cisplatin-induced ototoxicity
Cisplatin-induced ototoxicity (CIO), characterized by irreversible and progressive bilateral hearing loss, is a prevalent ...
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals
This study aimed to screen southern and southwestern Chinese individuals using expanded carrier screening (ECS), which exp...
Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy
Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy
Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intr...
The regulatory landscape of interacting RNA and protein pools in cellular homeostasis and cancer
The regulatory landscape of interacting RNA and protein pools in cellular homeostasis and cancer
Biological systems encompass intricate networks governed by RNA-protein interactions that play pivotal roles in cellular f...
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Treatment resistant schizophrenia (TRS) is broadly defined as inadequate response to adequate treatment and is associated ...
Forward–reverse mutation cycles in cancer cell lines under chemical treatments
Forward–reverse mutation cycles in cancer cell lines under chemical treatments
Spontaneous forward–reverse mutations were reported by us earlier in clinical samples from various types of cancers ...
Study of adiponectin gene (rs1501299) polymorphism and serum adiponectin level in patients with primary knee osteoarthritis
Study of adiponectin gene (rs1501299) polymorphism and serum adiponectin level in patients with primary knee osteoarthritis
We aimed to study, for the first time in the Egyptian population, the relationship between the serum adiponectin level in ...
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BM...
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional ...
Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles
Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles
High-quality genomic datasets from under-representative populations are essential for population genetic analysis and medi...
Integrated multiomics revealed adenosine signaling predict immunotherapy response and regulate tumor ecosystem of melanoma
Integrated multiomics revealed adenosine signaling predict immunotherapy response and regulate tumor ecosystem of melanoma
Extracellular adenosine is extensively involved in regulating the tumor microenvironment. Given the disappointing results ...
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility
Bi-allelic variants in DNAH11 have been identified as causative factors in Primary Ciliary Dyskinesia, leading to abnormal...
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes
Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, maki...
The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes
The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes
This study aims to assess the effect of familial structures on the still-missing heritability estimate and prediction accu...
Multi-regional genomic and transcriptomic characterization of a melanoma-associated oral cavity cancer provide evidence for CASP8 alteration-mediated field cancerization
Multi-regional genomic and transcriptomic characterization of a melanoma-associated oral cavity cancer provide evidence for CASP8 alteration-mediated field cancerization
Precancerous and malignant tumours arise within the oral cavity from a predisposed “field” of epithelial cells...
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