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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 ...
Identification and validation of an m7G-related lncRNAs signature for predicting prognosis, immune response and therapy landscapes in ovarian cancer
Identification and validation of an m7G-related lncRNAs signature for predicting prognosis, immune response and therapy landscapes in ovarian cancer
BackgroundOvarian cancer is the most mortality malignancy in gynecology. N7-methylguanosine (m7G) is one of the most preva...
Transcriptomic insights into mycorrhizal interactions with tomato root: a comparative study of short- and long-term post-inoculation responses
Transcriptomic insights into mycorrhizal interactions with tomato root: a comparative study of short- and long-term post-inoculation responses
BackgroundArbuscular mycorrhiza (AM) refers to a symbiotic association between plant roots and fungi that enhances the upt...
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 ...
Genetic investigation and diagnosis in adults with congenital heart disease with or without structural or neurodevelopmental comorbidity: a retrospective chart review
Genetic investigation and diagnosis in adults with congenital heart disease with or without structural or neurodevelopmental comorbidity: a retrospective chart review
IntroductionGenetic evaluation is indicated for individuals with congenital heart disease (CHD), especially if extracardia...
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...
Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment
Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy involving approximately 80 pathogenic genes. Whole...
Causal relationship between Women’s reproductive traits and postpartum depression: a multivariate mendelian randomization analysis
Causal relationship between Women’s reproductive traits and postpartum depression: a multivariate mendelian randomization analysis
PurposeThe relationship between women’s reproductive traits and postpartum depression (PPD) has not been clarified. We rev...
The impact of sleep problems on cerebral aneurysm risk is mediated by hypertension: a mediated Mendelian randomization study
The impact of sleep problems on cerebral aneurysm risk is mediated by hypertension: a mediated Mendelian randomization study
IntroductionCerebral aneurysm (CA) is a common vascular disease. The risk factors of CA include hypertension, smoking, and...
Trends and frontiers of RNA methylation in cancer over the past 10 years: a bibliometric and visual analysis
Trends and frontiers of RNA methylation in cancer over the past 10 years: a bibliometric and visual analysis
PurposeTo highlight the trends and frontiers of RNA methylation in cancer over the past 10 years.MethodsResearch publicati...
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus
IntroductionLong-read sequencing (LRS) enables accurate structural variant detection and variant phasing. When a molecular...
Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome
Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome
BackgroundThe clinical phenotypes of 16p13.11 microduplication syndrome have been extensively reported in previous studies...
ONT sequencing identifies a high prevalence of crt sensitive, triple mutant dhfr and single mutant dhps parasites within an ANC population in Nigeria
ONT sequencing identifies a high prevalence of crt sensitive, triple mutant dhfr and single mutant dhps parasites within an ANC population in Nigeria
BackgroundMalaria in pregnancy is a major public health issue, particularly among vulnerable populations in malaria-endemi...
Identification, function validation and haplotype analysis of salt-tolerant genes of lectin receptor kinase gene family in sorghum (Sorghum bicolor L.)
Identification, function validation and haplotype analysis of salt-tolerant genes of lectin receptor kinase gene family in sorghum (Sorghum bicolor L.)
IntroductionSalt stress is one of the significant challenges in sorghum production, greatly impacting the yield of S. bico...
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family
BackgroundCockayne syndrome (CS) is a rare, multisystem, autosomal recessive disorder characterized by cachectic dwarfism,...
Metabolomics combined with transcriptomics and physiology reveals the regulatory responses of soybean plants to drought stress
1 IntroductionDrought, a prominent environmental factor, significantly reduces the growth and productivity of plants, ther...
A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome
A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome
BackgroundTumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominant disorder with a...
Application of whole exome sequencing in carrier screening for high-risk families without probands
Application of whole exome sequencing in carrier screening for high-risk families without probands
PurposeThis study aimed to screen the genetic etiology for the high-risk families including those with an adverse pregnanc...
Causal association between major depressive disorder and venous thromboembolism: a bidirectional mendelian randomization study
Causal association between major depressive disorder and venous thromboembolism: a bidirectional mendelian randomization study
PurposeMajor depressive disorder (MDD) and venous thromboembolism (VTE) may be linked in observational studies. However, t...
The genomic landscape of the immune system in lung cancer: present insights and continuing investigations
The genomic landscape of the immune system in lung cancer: present insights and continuing investigations
Lung cancer is one of the most prevalent malignancies worldwide, contributing to over a million cancer-related deaths annu...
Inside the genome: understanding genetic influences on oxidative stress
Inside the genome: understanding genetic influences on oxidative stress
Genetics is a key factor that governs the susceptibility to oxidative stress. In the body, oxidative burden is regulated b...
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
In the published article, there was an error in the legend for Figure 4 as published. The gene names corresponding to colo...
Tuning tRNAs for improved translation
Tuning tRNAs for improved translation
Transfer RNAs have been extensively explored as the molecules that translate the genetic code into proteins. At this inter...
Effects of ankylosing spondylitis on cardiovascular disease: aMendelian randomization study
Effects of ankylosing spondylitis on cardiovascular disease: aMendelian randomization study
ObjectiveAccumulating evidence suggests that patients with ankylosing spondylitis (AS) have an elevated risk for cardiovas...
Identification of differentially expressed genes of blood leukocytes for Schizophrenia
Identification of differentially expressed genes of blood leukocytes for Schizophrenia
BackgroundSchizophrenia (SCZ) is a severe neurodevelopmental disorder with brain dysfunction. This study aimed to use bioi...
Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics
Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease is a group of inherited neurodegenerative disorder...
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