Yanhua Lang
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View article: Three exonic variants in the <scp>COL4A5</scp> gene alter <scp>RNA</scp> splicing in a minigene assay
Three exonic variants in the <span>COL4A5</span> gene alter <span>RNA</span> splicing in a minigene assay Open
Background X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process …
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: 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: 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: 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: Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report Open
View article: Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report Open
View article: Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report Open
View article: A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type <scp>II</scp>
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type <span>II</span> Open
Pseudohypoaldosteronism type II ( PHAII ) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes ( WNK 1 , WNK 4 , CUL 3, and KLHL 3 ) have been identified to be responsible for this dise…
View article: A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria Open
View article: Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones Open
View article: Erratum
Erratum Open
paragraph describing adverse events on p. 233, the number of subjects who experienced adverse events should have been given as two rather than three:'No bleeding events occurred during the study.Two subjects in Group A experienced 4 advers…
View article: Supplementary Material for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
Supplementary Material for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome Open
Background: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3. This study was designed to analyze the characteristics of the genotype and phenotype, …
View article: PowerPoint Slides for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
PowerPoint Slides for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome Open
Background: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3. This study was designed to analyze the characteristics of the genotype and phenotype, …
View article: Supplementary Material for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
Supplementary Material for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome Open
Background: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3. This study was designed to analyze the characteristics of the genotype and phenotype, …
View article: PowerPoint Slides for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
PowerPoint Slides for: Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome Open
Background: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3. This study was designed to analyze the characteristics of the genotype and phenotype, …
View article: Supplementary Material for: Two Novel <b><i>HOGA1</i></b> Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3
Supplementary Material for: Two Novel <b><i>HOGA1</i></b> Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3 Open
Background: Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in As…
View article: Two Novel <b><i>HOGA1</i></b> Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3
Two Novel <b><i>HOGA1</i></b> Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3 Open
Background: Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in As…