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Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
1 IntroductionHypotrichosis simplex of the scalp is a clinically low-morbidity monogenic autosomal dominant disorder chara...
Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report
IntroductionCell-free DNA (cfDNA) testing has been established in many countries as the first-line screening method for ma...
Therapeutic target genes and regulatory networks of gallic acid in cervical cancer
1 IntroductionAccording to the 2022 Global Cancer Statistics, cervical cancer (CC) is the fourth most common cancer and th...
Comprehensive analysis of the circRNA expression profile and circRNA-miRNA-mRNA network in pelvic organ prolapse
1 IntroductionPelvic organ prolapse is a common problem among women in which the uterus, bladder, and/or rectum protrude f...
Mutation in the COL2A1 gene is associated with acetabular dysplasia
1 IntroductionDevelopmental dysplasia of the hip (DDH) is a complex musculoskeletal disorder with a broad spectrum of clin...
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy
1 IntroductionEpilepsy is a common neurological disorder in pediatrics characterized by a highly variable phenotype. Clini...
Corrigendum: Set of 15 SNP-SNP markers for detection of unbalanced degraded DNA mixtures and noninvasive prenatal paternity testing
Unbalanced and degraded mixtures (UDM) are very common in forensic DNA analysis. For example, DNA signals from criminal su...
Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever
IntroductionFamilial Mediterranean Fever (FMF) (MIM # 249100) is a hereditary autoinflammatory disorder predominantly affe...
Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child
IntroductionEpilepsy is one of the most common neurological disorders, affecting up to 4% of people during their lifetime....
Classical and machine learning tools for identifying yellow-seeded Brassica napus by fusion of hyperspectral features
M=150 as an example. Before that, we placed the randomly selected 150 test samples in the three-dimensional space construc...
Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities
IntroductionCardiac morphogenesis initially involves the coordinated actions of progenitor cells, which give rise to diver...
Identification of key miRNAs and target genes in extracellular vesicles derived from low-intensity pulsed ultrasound-treated stem cells
1 IntroductionStem cells (SCs) comprise undifferentiated cells possessing distinctive abilities for self-renewal and tissu...
Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency
1 IntroductionThe ADA2 gene encodes adenosine deaminase 2 (OMIM#607575) and is located on chromosome 22q11.1, with a total...
Exploring prognosis and therapeutic strategies for HBV-HCC patients based on disulfidptosis-related genes
1 IntroductionHepatocellular carcinoma (HCC) ranks sixth (4.3%) among newly diagnosed cancer cases globally and is the thi...
Integrating single-cell RNA-seq and bulk RNA-seq to explore prognostic value and immune landscapes of methionine metabolism-related signature in breast cancer
1 IntroductionBreast cancer is the most prevalent cancer among women and the second leading cause of cancer-related mortal...
Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations
1 IntroductionPIK3CA-related disorders (PRD, OMIM: *171834) are a group of genetic conditions that lead to the overgrowth ...
Genetic variation in patent foramen ovale: a case-control genome-wide association study
1 IntroductionPatent foramen ovale (PFO) is a common congenital heart defect characterized by a potential space or separat...
Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies
IntroductionIn China, congenital anomalies occur at a prevalence of approximately 5.6% (Xu et al., 2020). These developmen...
Editorial: Pharmacogenetics of psychiatric disorders
important role in some cases (Maj et al. 2020, Maj et al. 2021, Salazar de Pablo et al. 2021).Pharmacogenomics (PGx) is th...
Variability of PRDM9 in buffaloes
IntroductionBrazil has about 1.59 million heads of buffalo (FAO, 2024) with herds for milk, meat, and dual-purpose product...
Circle-seq reveals that eccDNA may be a key blood biomarker for HBV-associated liver cancer
1 IntroductionOncogene amplification, a prevalent molecular alteration in cancer formation and progression offers a growth...
A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region
1 IntroductionWith the changing lifestyle and increasing social pressures, the incidence of infertility has been steadily ...
Single-cell RNA sequencing elucidates cellular plasticity in esophageal small cell carcinoma following chemotherapy treatment
IntroductionEsophageal cancer is a leading cause of morbidity and mortality among gastrointestinal malignancies globally (...
Comprehensive analysis of ferroptosis-related genes reveals potential therapeutic targets in osteoporosis patients: a computational analysis and in vitro experiments
1 IntroductionThe aging of the global population is contributing to an increase in osteoporosis, which is a serious public...
Depression-related innate immune genes and pan-cancer gene analysis and validation
1 IntroductionAs the pace of modern life accelerates, the rising prevalence of depression has been rising globally. Curren...
Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care
IntroductionThe diagnosis of patients with rare disorders often encounters significant delays due to various factors. Pati...
Dual disease co-expression analysis reveals potential roles of estrogen-related genes in postmenopausal osteoporosis and Parkinson’s disease
1 IntroductionPostmenopausal osteoporosis (PMO) represents a prevalent metabolic bone disorder characterized by a decline ...
Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective
1 IntroductionHumans have adapted successfully to high-altitude environments around the world, enduring hypobaric hypoxia ...
Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report
IntroductionFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disease with a prevalence of 1/1...
Recent advances in deep learning and language models for studying the microbiome
1 IntroductionThe study of microbiomes and metagenomics has significantly advanced our understanding of microbial communit...
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