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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication
1 IntroductionThe widespread chromosome copy number variations (CNVs) in the human genome contribute a major source of hum...
Mechanism of action of lncRNA-NEAT1 in immune diseases
1 IntroductionLong non-coding RNAs (lncRNAs) are RNA molecules longer than 200 bases, primarily found in the nucleus and c...
Genetic discrimination in insurance and employment based on personalized risk stratification for breast cancer screening
1 IntroductionThe occurrence of breast cancer (BC) in Canada is expected to continue to rise in the next 2 decades undersc...
Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review
IntroductionIn uniparental disomy (UPD), both homologous chromosomes are inherited from a single parent. Based on whether ...
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
IntroductionWhile individually rare, the overall worldwide incidence of all mitochondrial diseases is approximately one in...
Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network
1 IntroductionMyopia is a pathological condition that affects distance vision (Ohno-Matsui et al., 2016; Foster and Jiang,...
Sex differences in asthma: omics evidence and future directions
1 IntroductionAsthma is a common chronic inflammatory airway disease with heterogeneity, and its etiology is complex, invo...
Study on the mechanism of KIF18B affecting the malignant progression of glioblastoma cells
IntroductionGlioblastoma multiforme (GBM) represents the most common and aggressive variant of primary malignant brain tum...
Application of a novel RNA-protein interaction assay to develop inhibitors blocking RNA-binding of the HuR protein
1 IntroductionRNA-binding proteins and their association to their target RNAs are critically involved in a plethora of cel...
Editorial: The role of genes and network pharmacology in new drug discovery
In the ever-evolving field of new drug development, genetics and network pharmacology have emerged as two pivotal elements...
The relationship of miR-155 host gene polymorphism in the susceptibility of cancer: a systematic review and meta-analysis
1 BackgroundThe onset of cancer originates from abnormalities in cell proliferation and apoptosis (Thompson, 1995), which ...
Association between single nucleotide polymorphisms in EPAS1 and PPARA genes and high altitude polycythemia in Chinese Tibetan population
1 IntroductionHigh altitude polycythemia (HAPC) is a chronic plateau disease in which the organism lives for a long period...
Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis
IntroductionThe term “dyschromatosis” refers to a group of pigmentary disorders that present with both hyper- and hypo-pig...
Chromosome 1 variants associated with decreased HIV set-point viral load correlate with PRKAB2 expression changes
IntroductionThe HIV host-pathogen interaction is complex, with hundreds of human genes being implicated as candidate host ...
Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up
1 IntroductionDesmoglein-2 (DSG2), a desmosomal cadherin protein encoded by the DSG2 gene (Online Mendelian Inheritance in...
Corrigendum: Omics multi-layers networks provide novel mechanistic and functional insights into fat storage and lipid metabolism in poultry
Corrigendum on: Ghafouri F, Bahrami A, Sadeghi M, Miraei-Ashtiani SR, Bakherad M, Barkema HW and Larose S (2021) Omics Mul...
Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome
1 IntroductionKabuki syndrome (KS) has an incidence of approximately 1:30,000 (Del Cerro et al., 2020) and was first descr...
A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review
A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review
BackgroundLynch syndrome (LS) is an autosomal dominant inherited disorder caused by mutations in mismatch repair genes. Ge...
Identification of plasma exosomal lncRNA as a biomarker for early diagnosis of gastric cancer
Identification of plasma exosomal lncRNA as a biomarker for early diagnosis of gastric cancer
BackgroundThere were about 1,090,000 gastric cancer (GC) cases in 2020 in China. The incidence and mortality rates ranked ...
TFE3 and TP53 were novel diagnostic biomarkers related to mitochondrial autophagy in chronic rhinosinusitis with nasal polyps
TFE3 and TP53 were novel diagnostic biomarkers related to mitochondrial autophagy in chronic rhinosinusitis with nasal polyps
BackgroundChronic rhinosinusitis with nasal polyps (CRSwNP) belongs to a subtype of Chronic rhinosinusitis which is a hete...
Examining epigenetic aging in the post-mortem brain in attention deficit hyperactivity disorder
Examining epigenetic aging in the post-mortem brain in attention deficit hyperactivity disorder
Mathematical algorithms known as “epigenetic clocks” use methylation values at a set of CpG sites to estimate the biologic...
The current status and improvement directions of legal rules regarding Chinese national gene banks for farm animal genetic resources
The current status and improvement directions of legal rules regarding Chinese national gene banks for farm animal genetic resources
A gene bank for farm animal genetic resources (FAGR) is an important facility for the diversity conservation of FAGR. The ...
Pan-cancer analysis and experimental validation of FPR3 as a prognostic and immune infiltration-related biomarker for glioma
Pan-cancer analysis and experimental validation of FPR3 as a prognostic and immune infiltration-related biomarker for glioma
Formyl peptide receptor 3 (FPR3) is known to have implications in the progression of various cancer types. Despite this, i...
Identification of heat-tolerant mungbean genotypes through morpho-physiological evaluation and key gene expression analysis
Identification of heat-tolerant mungbean genotypes through morpho-physiological evaluation and key gene expression analysis
Mungbean plays a significant role in global food and nutritional security. However, the recent drastic rise in atmospheric...