Search Results - "Nagai, Sadayuki"
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Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
Published in Scientific reports (09-08-2021)“…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…”
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Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
Published in Clinical and experimental nephrology (01-02-2022)“…Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than…”
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Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases
Published in Scientific reports (20-08-2020)“…Galactose-deficient IgA1 (Gd-IgA1) is important in the pathogenesis of IgA nephropathy (IgAN). A Gd-IgA1-specific monoclonal antibody (KM55) has revealed…”
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Spontaneous regression of arterial pseudoaneurysm after kidney biopsy
Published in CEN case reports (01-02-2022)Get full text
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Efficacy of combination therapy for childhood complicated focal IgA nephropathy
Published in Clinical and experimental nephrology (01-06-2022)“…Background Patients with immunoglobulin A nephropathy who present with focal mesangial proliferation (focal IgAN) can have a relatively good prognosis, and…”
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Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome
Published in Clinical and experimental nephrology (01-07-2021)“…Background Pathological findings in Alport syndrome frequently show mesangial proliferation and sometimes incidental IgA deposition, in addition to unique…”
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Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome
Published in Kidney360 (30-12-2021)“…Pathogenic variants in single genes encoding podocyte-associated proteins have been implicated in about 30% of steroid-resistant nephrotic syndrome (SRNS)…”
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Bilateral Renal Hypoplasia with High β2-Microglobulinuria in the Neonatal Period
Published in Kobe journal of the medical sciences (2021)“…Urinary β2 microglobulin (β2-MG) is a low-molecular-weight protein that is filtered by the glomerular basement membrane and absorbed by the proximal tubule…”
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Corrigendum to “Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease”Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866
Published in Kidney international reports (01-05-2023)“…[This corrects the article DOI: 10.1016/j.ekir.2021.12.037.]…”
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Langerhans cell histiocytosis with molluscum contagiosum: A correlation?
Published in Journal of dermatology (01-06-2017)Get full text
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BCS1L Mutations Produce Fanconi Syndrome with Developmental Disability: PO1361
Published in Journal of the American Society of Nephrology (01-10-2021)Get full text
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Clinical and pathological investigation of oligomeganephronia
Published in Pediatric nephrology (Berlin, West) (01-03-2023)“…Background Oligomeganephronia (OMN) is a rare congenital anomaly involving the kidney and urinary tract, characterized by decreased number and compensatory…”
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Pathogenicity Assessment of Non-Glycine Missense Variants in COL4A5 Collagenous Domain: PO1342
Published in Journal of the American Society of Nephrology (01-10-2021)Get full text
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Examination of the Predicted Prevalence of Gitelman Syndrome by Ethnicity Based on Genome Databases: PO1324
Published in Journal of the American Society of Nephrology (01-10-2021)Get full text
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Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis
Published in Pediatric nephrology (Berlin, West) (01-12-2023)“…Background Patients with severe IgA vasculitis with nephritis (IgAVN) typically receive aggressive therapy as an initial approach. We have consistently…”
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Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch–Schönlein purpura nephritis of moderate severity
Published in Pediatric nephrology (Berlin, West) (01-08-2022)“…Background Cases of Henoch–Schönlein purpura nephritis (HSPN) with moderate severity were demonstrated to achieve good prognosis after treatment with…”
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Detecting pathogenic deep intronic variants in Gitelman syndrome
Published in American journal of medical genetics. Part A (01-09-2022)“…Gitelman syndrome (GS) is a rare, autosomal recessive, salt‐losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the…”
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Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing
Published in Kidney international reports (01-01-2022)“…COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset…”
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