Wencong Guo
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View article: Association between life’s crucial 9 and stroke: results from the NHANES 2005–2018
Association between life’s crucial 9 and stroke: results from the NHANES 2005–2018 Open
Our findings indicated that higher LC9 scores were associated with a reduced likelihood of stroke. Preserving a favorable LC9 score may serve as a potential strategy for stroke prevention. To substantiate these observations and establish c…
View article: <b>Long-term trends in the incidence of urolithiasis in t</b>he <b>United States and China: a joinpoint regression and age-period-cohort analysis based on GBD 2021</b>
<b>Long-term trends in the incidence of urolithiasis in t</b>he <b>United States and China: a joinpoint regression and age-period-cohort analysis based on GBD 2021</b> Open
Background Urolithiasis represents a significant global health burden. Comparing incidence trends between countries with distinct socioeconomic profiles, such as the United States and China, is crucial for tailoring public health strategie…
View article: Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex Open
Tuberous sclerosis complex (TSC) is characterized by abnormalities in cell proliferation and migration, leading to the development of hamartomas, benign tumors, or malignant cancers, affecting both the skin and brain, as well as potentiall…
View article: Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay Open
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level. However, …
View article: Probiotic consumption and hepatic steatosis: results from the NHANES 2011–2016 and Mendelian randomization study
Probiotic consumption and hepatic steatosis: results from the NHANES 2011–2016 and Mendelian randomization study Open
Background Recent research showed that probiotics treatment may reduce insulin resistance, regulate lipid metabolism, raise liver enzyme levels, and ameliorate inflammation in individuals with metabolic associated fatty liver disease (MAFL…
View article: Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay
Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay Open
Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are desc…
View article: Associations between Probiotic Exposure and yogurt consumption with Hepatic Steatosis: A nationwide cross-sectional study
Associations between Probiotic Exposure and yogurt consumption with Hepatic Steatosis: A nationwide cross-sectional study Open
Background Recent research showed that probiotics treatment may reduce insulin resistance, regulate lipid metabolism, raise liver enzyme levels, and ameliorate inflammation in individuals with non-alcoholic fatty liver disease (NAFLD). How…
View article: Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients
Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients Open
Background: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by excessive accumulation of oxalate in plasma and urine, resulting in various phenotypes due to allelic and clinical heterogeneity. This study aimed to analyz…
View article: Associations between Probiotic Exposure and Hepatic Steatosis: A nationwide cross-sectional study
Associations between Probiotic Exposure and Hepatic Steatosis: A nationwide cross-sectional study Open
Background : Recent research showed that probiotics treatment may reduce insulin resistance, regulate lipid metabolism, raise liver enzyme levels, and ameliorate inflammation in individuals with non-alcoholic fatty liver disease (NAFLD). H…
View article: Table of Contents
Table of Contents Open
View article: Minigene splicing assays reveal new insights into exonic variants of the <i>SLC12A3</i> gene in Gitelman syndrome
Minigene splicing assays reveal new insights into exonic variants of the <i>SLC12A3</i> gene in Gitelman syndrome Open
Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disr…
View article: Systemic immune-inflammation index is associated with diabetic kidney disease in Type 2 diabetes mellitus patients: Evidence from NHANES 2011-2018
Systemic immune-inflammation index is associated with diabetic kidney disease in Type 2 diabetes mellitus patients: Evidence from NHANES 2011-2018 Open
Objective Diabetic kidney disease (DKD) is the most common chronic kidney disease (CKD) and has the highest prevalence of end-stage kidney disease (ESKD) globally, owing mostly to the rise in Type 2 diabetes mellitus (T2DM) correlated with…
View article: Systemic immune-inflammation index is associated with hepatic steatosis: Evidence from NHANES 2015-2018
Systemic immune-inflammation index is associated with hepatic steatosis: Evidence from NHANES 2015-2018 Open
Background As a novel inflammatory marker, Systemic Immune-Inflammation Index (SII) has not been studied with hepatic steatosis. The aim of this study was to investigate the possible relationship between SII and hepatic steatosis. Methods …
View article: Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman Syndrome.
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman Syndrome. Open
Gitelman syndrome (GS) is a kind of salt-losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which exonic variants disrupt …
View article: Identification of seven exonic variants in the <i>SLC4A1</i> , <i>ATP6V1B1</i> , and <i>ATP6V0A4</i> genes that alter RNA splicing by minigene assay
Identification of seven exonic variants in the <i>SLC4A1</i> , <i>ATP6V1B1</i> , and <i>ATP6V0A4</i> genes that alter RNA splicing by minigene assay Open
Primary distal renal tubular acidosis (dRTA) is a rare tubular disease associated with variants in SLC4A1, ATP6V0A4, ATP6V1B1, FOXⅠ1, or WDR72 genes. Currently, there is growing evidence that all types of exonic variants can alter splicing…
View article: Author response for "Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis"
Author response for "Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis" Open
View article: Author response for "Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis"
Author response for "Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis" Open
View article: Identification of eight exonic variants in the SLC4A1, ATP6V1B1 and ATP6V0A4 gene that alter RNA splicing by minigene assay
Identification of eight exonic variants in the SLC4A1, ATP6V1B1 and ATP6V0A4 gene that alter RNA splicing by minigene assay Open
Primary distal renal tubular acidosis (dRTA) is a rare tubular disease associated with variants in SLC4A1, ATP6V0A4, ATP6V1B1, FOXⅠ1 or WDR72 genes. Currently, there is growing evidence that all types of exonic variants can alter splicing …
View article: Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay Open
To our knowledge, we report, for the first time, SLC5A2 exonic variants that produce alterations in pre-mRNA. Our research reinforces the importance of assessing the consequences for putative point variants at the mRNA level. Additi…
View article: Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report
Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report Open
Sudden onset of nephrotic syndrome, although rare, may occur in FD, even as the primary renal manifestation, but this usually suggests additional renal disease. Immunosuppressive treatment should be considered in such FD patient companying…
View article: Impaired DNA double-strand break repair contributes to the age-associated rise of genomic instability in humans
Impaired DNA double-strand break repair contributes to the age-associated rise of genomic instability in humans Open