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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation ...
The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data
The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data
Pancreatic ductal adenocarcinoma (PDAC) is a malignant tumor with poor prognosis and high mortality. Although a large numb...
An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of famili...
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this t...
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to re...
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer
A certain proportion of genes are regulated by multiple, distinct promoters, revealing a dynamic landscape of the cancer t...
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction
As a vital anthropometric characteristic, human height information not only helps to understand overall developmental stat...
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia
Long non-coding RNA (lncRNA) genes represent a large class of transcripts that are widely expressed across species. As mos...
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a common reproductive aging disorder due to a dramatic decline of ovarian functio...
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
Accurate discrimination of pathogenic and nonpathogenic variation remains an enormous challenge in clinical genetic testin...
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation
Colorectal cancer (CRC) is the third most prevalent diagnosed cancer in men and second most prevalent cancer in women. H3K...
Clinical and genetic architecture of a large cohort with auditory neuropathy
Clinical and genetic architecture of a large cohort with auditory neuropathy
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution...
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of in...
Trisomy silencing by XIST: translational prospects and challenges
Trisomy silencing by XIST: translational prospects and challenges
XIST RNA is heavily studied for its role in fundamental epigenetics and X-chromosome inactivation; however, the translatio...
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube c...
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand...
Functional categorization of gene regulatory variants that cause Mendelian conditions
Functional categorization of gene regulatory variants that cause Mendelian conditions
Much of our current understanding of rare human diseases is driven by coding genetic variants. However, non-coding genetic...
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease
The differentiation of resident intestinal macrophages from blood monocytes depends upon signals from the macrophage colon...
Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference
Mendelian randomization is a powerful method for inferring causal relationships. However, obtaining suitable genetic instr...
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration
Cisplatin-induced acute kidney injury (CP-AKI) is a common complication in cancer patients. Although ferroptosis is believ...
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental d...
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants
Miscarriage, often resulting from a variety of genetic factors, is a common pregnancy outcome. Preconception genetic carri...
Screening copy number variations in 35 unsolved inherited retinal disease families
Screening copy number variations in 35 unsolved inherited retinal disease families
The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) fam...
The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC)
The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC)
Ovarian cancer (OC) is a fatal gynecological disease that is often diagnosed at later stages due to its asymptomatic natur...
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. W...
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism
Vitamin D-binding protein (VDBP) deficiency is a recently discovered apparently benign biochemical disorder that can masqu...
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility
Preimplantation embryonic arrest is an important pathogenesis of female infertility, but little is known about the genetic...
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges
Missense mutations are known contributors to diverse genetic disorders, due to their subtle, single amino acid changes imp...