A5090504850- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Cell Adhesion Molecules Research
- Genetic Syndromes and Imprinting
- Platelet Disorders and Treatments
- RNA Research and Splicing
- Renal Diseases and Glomerulopathies
- Ion Transport and Channel Regulation
- Connective tissue disorders research
- Cellular transport and secretion
- RNA regulation and disease
- Ion channel regulation and function
- Amino Acid Enzymes and Metabolism
- Magnesium in Health and Disease
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Pancreatic function and diabetes
- Hedgehog Signaling Pathway Studies
- Genomics and Rare Diseases
- Pediatric Hepatobiliary Diseases and Treatments
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Sexual Differentiation and Disorders
- Diverse Scientific and Economic Studies
- Tuberous Sclerosis Complex Research
Kobe Children's Hospital
2017-2024
Kobe University
2012-2022
Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be delayed by renin-angiotensin inhibitors. However, whether all patients and different genotypes respond equally well to this kidney-protective therapy remains unclear. Here, we performed a retrospective study on 430 with male X-linked syndrome examine relationships among prognosis, genotype, treatment effect large cohort of Japanese patients. We analyzed clinical features, genotype-phenotype correlation,...
Abstract Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report development of an exon-skipping therapy using antisense-oligonucleotide (ASO) severe male X-linked syndrome (XLAS). We targeted truncating variants in exon 21 COL4A5 gene and conducted a type IV collagen α3/α4/α5 chain triple helix formation assay, vitro vivo treatment efficacy evaluation. show that skipping enabled trimer formation, leading to...
Background X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation male XLAS relatively well established; relative to truncating mutations, nontruncating exhibit milder phenotypes. However, transcript comparison between cases with splicing abnormalities that result premature stop codon and those has not been reported, mainly because analysis routinely conducted patients XLAS. Methods We examined expression...
Abstract Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact unknown. We predicted based on multiple genome databases, HGVD jMorp for Japanese population gnomAD other ethnicities, included all 274 pathogenic missense or nonsense variants registered HGMD Professional. The frequencies these alleles were summed to calculate total variant...
Abstract Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and screening have been published. Methods In this study, 441 patients clinically suspected of having AS were divided into two groups compared. The initial mutational method involved targeted exome using...
Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in MUC1. Because of complexity variant hotspot, identification using short-read sequencers (SRSs) challenging. Although recent studies have revealed usefulness long-read (LRSs), prevalence MUC1 variants patients with clinically suspected ADTKD remains unknown. We aimed clarify this and genetic...
Glycosylphosphatidylinositol (GPI) anchors tether proteins to the extracellular face of eukaryotic plasma membranes. Defects in human GPI anchor biosynthetic pathway cause inherited deficiencies (IGDs) characterized by multiple congenital anomalies: dysmorphic faces, developmental delay, hypotonia, and epilepsy. We report case a 6‐year‐old boy with severe psychomotor epilepsy, decreased granulocyte surface expression GPI‐anchored protein that suggested autosomal recessive deficiency. The...
Abstract Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing widely used for diagnosing XLAS; however, determining the pathogenicity variants detected such analyses can be difficult. Intronic or synonymous may cause inherited diseases inducing aberrant splicing. Transcript analysis necessary to confirm variants, but it sometimes difficult extract mRNA directly from...
Abstract CAKUT are the most frequent causes of ESRD in children. Mutations gene encoding HNF 1B , a transcription factor involved organ development and maintenance, cause multisystem disorder that includes diabetes, liver dysfunction. Here, we describe case patient with renal hypodysplasia who developed NODAT presenting The was initially thought to be steroid FK related. However, based on patient's clinical features, including recurrent elevations transaminase, screening for an mutation...