A5012446947- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Biomedical Research and Pathophysiology
- Renal and related cancers
- Pancreatitis Pathology and Treatment
- Renal Diseases and Glomerulopathies
- Pediatric Urology and Nephrology Studies
- Glycogen Storage Diseases and Myoclonus
- Dialysis and Renal Disease Management
- Kidney Stones and Urolithiasis Treatments
- Renin-Angiotensin System Studies
- Genetic Associations and Epidemiology
- Celiac Disease Research and Management
- Protist diversity and phylogeny
- Pregnancy and preeclampsia studies
- Chronic Lymphocytic Leukemia Research
- Gout, Hyperuricemia, Uric Acid
- Nuclear Structure and Function
- Glycosylation and Glycoproteins Research
- Aortic Disease and Treatment Approaches
- Fetal and Pediatric Neurological Disorders
- Hormonal Regulation and Hypertension
- Hydrogen's biological and therapeutic effects
- Microtubule and mitosis dynamics
- Chronic Kidney Disease and Diabetes
Kanazawa University
2001-2021
Kanazawa University Hospital
2016-2018
Yale University
2004
Kanazawa Hospital
2002
University of Fukui
2001
Fukui Prefectural Hospital
2000
Mutations in PRKCSH, encoding the β-subunit of glucosidase II, an N-linked glycan-processing enzyme endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations SEC63, a component protein translocation machinery ER, also this These findings are suggestive role for cotranslational protein-processing pathways maintaining epithelial luminal structure and implicate noncilial ER proteins human
The most severe form of autosomal dominant polycystic kidney disease occurs in patients with mutations the gene (PKD1) encoding polycystin-1 (PC1). PC1 is a complex polytopic membrane protein expressed cilia that undergoes autoproteolytic cleavage at G protein–coupled receptor proteolytic site (GPS). A quarter PKD1 are missense variants, though it not clear how these promote disease. Here, we established cell-based system to evaluate and determined GPS required for trafficking cilia. common...
Polycystin-2 (PC-2) is a non-selective cation channel that, when mutated, results in autosomal dominant polycystic kidney disease. In an effort to understand the regulation of this channel, we investigated role protein phosphorylation PC-2 function. We demonstrated direct incorporation phosphate into cells and tissues found that constitutive occurs at Ser(812), putative casein kinase II (CK2) substrate domain. Ser(812) can be phosphorylated by CK2 vitro substitution S812A failure incorporate...
The adaptor protein Linker for activation of T cell (LAT) is a key signaling hub used by the antigen receptor. Mutant mice expressing loss-of-function mutations affecting LAT and including mutation in which tyrosine 136 replaced phenylalanine (LatY136F) develop lymphoproliferative disorder involving helper type 2 effector cells capable triggering massive polyclonal B that leads to hypergammaglobulinemia G1 E non-resolving inflammation autoimmunity. purpose this study was evaluate whether...
Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary caused by variety of genetic mutations. Carriers mutation in the responsible genes are at risk reaching end-stage typically middle age. The frequency this assumed to be underestimated because lack disease-specific signs. Pathological findings obtained from uromodulin related ADTKD (ADTKD-UMOD) patients regarded as non-specific and less-informative for its diagnosis. This research was...
Uromodulin kidney disease (UKD) is an inherited caused by a uromodulin (UMOD) gene mutation. The UMOD encodes the Tamm-Horsfall protein (THP), which most abundant in healthy human urine. Because of its rarity, incidence UKD has not been fully elucidated. purpose present study to clarify frequency among patients who underwent renal biopsy.Immunostaining for THP was performed <50 years age with insufficiency and hyperuricemia without overt urinalysis abnormality from biopsy databases. Serum...
Background: Situs inversus is a rare complication of cystic kidney diseases. Only three genes, INVS (NPHP2), NPHP3 and PKD2 have been proved to be responsible for some cases, while the genes in many others are still unknown. Case Reports: Here we report two male patients with situs combined disease without any family history polycystic disease. Their renal function was normal childhood but culminated end stage middle age. No pathogenic mutations were found mutation analysis INVS, IFT88,...
Background The high heritability of plasma renin activity was confirmed in recent investigations. A variation located near the strong enhancer human gene (REN), C-5312T, has been shown to have different transcription levels depending on its allele: 5312T allele shows that are 45% greater than those 5312C allele. purpose this study confirm hypothesis variations region REN involved regulating renal expression renin. Methods Sixty-four subjects with biopsy-proven diseases were included...
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal disorders in world. Mutations PKD1 are responsible for 80-95% all autosomal (ADPKD). Although need linkage analysis ADPKD decreasing after success mutation detection at whole exons PKD1, still has some advantages detecting non-PKD1 families, thereby avoiding hopeless analysis.We evaluated ten microsatellite markers beside or inside on chromosome 16p. Allele frequency and heterozygosity each marker...
separately analyzing 24-hour excretions of sodium during V2RA treatment, potassium and urea nitrogen instead osmolar excretion, were found to be independently associated with urine volume (b ¼ 0.58, p < 0.001, b 0.39, 0.008, respectively).CONCLUSIONS: While using V2RA, excretion is the most important determinant volume.These data suggest that restriction intake osmoles could limit aquaretic side-effects, thereby giving patients more control over these side-effects improving tolerability.
Objective: Hyperuricemia is thought to be one of risk factors for cardiovascular and renal conditions. Several responsible genes gout have been identified including uromodulin (UMOD). UMOD known as the disease gene familial juvenile hypouricemic nephropathy. On other hand, recent GWAS revealed associated with hypertension. We therefore tested hypothesis that a genetic variant could show significant association uric acid (UA) concentrations blood pressure (BP). Design method: enrolled...
維持透析患者において臨床的に問題となる膵疾患の頻度は多いものではない. しかし末期腎不全患者の剖検例において, 高率に膵疾患が認められるとの報告もある. われわれは当院の維持透析患者75名のなかで, 膵管内乳頭腫瘍を合併した3例を経験した. 症例は男性1名, 女性2名. 年齢は72歳から86歳. 透析歴は3年から7年. 原疾患は糖尿病性腎症2名. 腎硬化症1名であった. いずれの症例も無症状であったが, 透析導入期前後にルーチンの検査で嚢胞性膵腫瘍が偶然みつかった. いずれの症例においても発見時には積極的に悪性を疑わせる所見に乏しく, 無症状のため保存的に経過観察されていた. しかしそのうちの1例は腫瘍の実質浸潤による閉塞性黄疸を合併し死亡した. 剖検は得られなかったが, 膵病変は膵管内乳頭腺癌に由来する浸潤癌と考えられた. 膵管内乳頭腫瘍は腎不全もしくは透析患者に併発しやすい合併症の可能性が示唆された.