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Innate immunodeficiencies: a group of primary immunodeficiencies predisposing exclusively to common diseases
Innate immunodeficiencies: a group of primary immunodeficiencies predisposing exclusively to common diseases
Innate immune deficiencies can impair both cellular and humoral immune responses. In contrast, other immune functions may ...
Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report
Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report
Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mut...
Molecular characterization of Ebola virus, immune response, and therapeutic challenges: a narrative review
Molecular characterization of Ebola virus, immune response, and therapeutic challenges: a narrative review
The Ebola virus (EBOV) remains a major public health challenge due to its complex structure and the lack of appropriate an...
The IFIH1 gene variants rs1990760 and rs2111485 are associated with COVID-19 susceptibility and affect IFIH1 protein levels in Iraqis
The IFIH1 gene variants rs1990760 and rs2111485 are associated with COVID-19 susceptibility and affect IFIH1 protein levels in Iraqis
Interferon-induced helicase C domain-containing protein 1 (IFIH1) is one of the main pattern recognition receptors that se...
An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach
An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach
The PKD2, encoding polycystin-2 (PC2) protein, is second major genetic determinant of autosomal dominant polycystic kidney...
Genetic predisposition to thyroid dysfunction: a case–control study investigating TSHR gene polymorphism (rs2268458) in Indians
Genetic predisposition to thyroid dysfunction: a case–control study investigating TSHR gene polymorphism (rs2268458) in Indians
Variations in the TSHR gene have been implicated in a spectrum of thyroid diseases. Previous studies have implicated varia...
Association of MnSOD (rs4880) and GPx1 (rs1050450) with diabetic nephropathy: a meta-analysis
Association of MnSOD (rs4880) and GPx1 (rs1050450) with diabetic nephropathy: a meta-analysis
Microvascular complications of diabetes including retinopathy, nephropathy, and neuropathy are those long-term complicatio...
Characterization of mitochondrial DNA mutations in colorectal cancer progression by in silico approach and use as potential biomarkers for diagnosis and prognosis
Characterization of mitochondrial DNA mutations in colorectal cancer progression by in silico approach and use as potential biomarkers for diagnosis and prognosis
Mitochondrial DNA variants are significant contributors to cancer progression, as evidenced by numerous findings. This stu...
The role of AGAP2-AS1, DLEU2, HMBOX1_1, and UGDH-AS1 in the progression of esophageal squamous cell carcinoma
The role of AGAP2-AS1, DLEU2, HMBOX1_1, and UGDH-AS1 in the progression of esophageal squamous cell carcinoma
Long noncoding RNAs (lncRNAs) have been recognized as viable prognostic and therapeutic indicators for numerous human mali...
In silico identification and characterisation of pathogenic genetic variants (nsSNPs) in the eukaryotic initiation factors eIF2 and eIF2B affecting miRNA binding sites
In silico identification and characterisation of pathogenic genetic variants (nsSNPs) in the eukaryotic initiation factors eIF2 and eIF2B affecting miRNA binding sites
The eukaryotic translation initiation factors (eIF2 and eIF2B) are known to play a regulatory role in translation initiati...
FSHB and FSHR genes variants in combination with hormones levels predict low and high ovarian response to controlled ovarian stimulation: a logistic regressive model
FSHB and FSHR genes variants in combination with hormones levels predict low and high ovarian response to controlled ovarian stimulation: a logistic regressive model
Predicting the number of follicles obtained after controlled ovarian stimulation (COS) is challenging, especially consider...
Mechanism of metabolic memory: progression in diabetic nephropathy—a descriptive review
Mechanism of metabolic memory: progression in diabetic nephropathy—a descriptive review
Diabetes mellitus and its complications exploit significantly impact global human well-being and economic burden. Previous...
A genotypic and phenotypic analysis of four unrelated Chinese patients with Pitt–Hopkins syndrome
A genotypic and phenotypic analysis of four unrelated Chinese patients with Pitt–Hopkins syndrome
Pitt–Hopkins syndrome (PTHS) is a rare genetic condition caused by a mutation in the transcription Factor 4 (TCF4) g...
Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report
Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report
Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaph...
Predictors of COVID-19 severity among a cohort of Egyptian patients
Predictors of COVID-19 severity among a cohort of Egyptian patients
As the outbreak of COVID-19 progresses, prognostic markers for the identification of high-risk individuals are urgently ne...
Identification and interaction analysis of molecular markers in myocardial infarction by bioinformatics and next-generation sequencing data analysis
Identification and interaction analysis of molecular markers in myocardial infarction by bioinformatics and next-generation sequencing data analysis
Cardiovascular diseases are prevalent worldwide with any age, and it is characterized by sudden blockage of blood flow to ...
Interactions between cancer and stroma mediated by extracellular vesicles
Interactions between cancer and stroma mediated by extracellular vesicles
Extracellular vehicles (EVs) are small membrane-bound particles that are released by both cancer and stromal cells. These ...
Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next-generation sequencing data analysis
Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next-generation sequencing data analysis
Endometriosis is a common cause of endometrial-type mucosa outside the uterine cavity with symptoms such as painful period...
On the cutting edge of sickle cell disease: a snapshot narrative review
On the cutting edge of sickle cell disease: a snapshot narrative review
Sickle cell disease (SCD) is the most common hemoglobinopathy worldwide, characterized by vaso-occlusive crises and ischem...
Profiling hippocampal expression of long non-coding RNA GM12371 in a rat model of vascular dementia
Profiling hippocampal expression of long non-coding RNA GM12371 in a rat model of vascular dementia
Dementia, characterized by synaptic dysfunction and memory loss, presents a significant challenge in medical research. Lon...
Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis
Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis
Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disease that causes changes in the electrolyte t...
Nuclear factor kappa B 1 A > G single-nucleotide polymorphism (rs4648068) in Egyptian patients with Behcet’s syndrome, case–control study
Nuclear factor kappa B 1 A > G single-nucleotide polymorphism (rs4648068) in Egyptian patients with Behcet’s syndrome, case–control study
Behcet's syndrome (BS) is a variable-vessel vasculitis characterized by hyperactive innate immunity. The nuclear facto...
Noninvasive diagnostic value of urinary mir-663a in pediatric lupus nephritis
Noninvasive diagnostic value of urinary mir-663a in pediatric lupus nephritis
Lupus nephritis (LN) is a severe clinical manifestation seen in individuals with systemic lupus erythematous (SLE). It has...
Genetic variations in PADI4 and CCR6: a comprehensive meta-analysis on rheumatoid arthritis susceptibility
Genetic variations in PADI4 and CCR6: a comprehensive meta-analysis on rheumatoid arthritis susceptibility
Rheumatoid arthritis is a long-term autoimmune condition that causes damage and inflammation to the joints. Genetic factor...
The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system ...
Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency
Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency
Purine nucleoside phosphorylase (PNP) deficiency is a rare, autosomal recessive, inborn error of immunity. It is character...
Corneal microstructural changes of precise CHST6 gene mutation: a case series
Corneal microstructural changes of precise CHST6 gene mutation: a case series
Macular corneal dystrophy (MCD) is an inherited, autosomal recessive disorder of defective keratan sulfate (KS) metabolism...
Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders
Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by social communication challenges and...
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system....
Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
Presence of Germline mutations in the BRCA1 and BRCA2 genes is the most significant epidemiological factor for breast canc...
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