Autosomal dominant polycystic kidney disease (ADPKD) occurs by germline mutation in PKD1 or PKD2. Evidence of homozygous inactivation of either gene in human cyst lining cells as well as in mouse knockout models strongly supports a two-hit mechanism for cyst formation. Discovery of trans-heterozygous mutations in PKD1 and PKD2 in a minority of human renal cysts has led to the proposal that such...

Autosomal dominant polycystic kidney disease (ADPKD) strikes 1 in 1000 individuals and often results in end-stage renal failure. Mutations in either PKD1 or PKD2 account for 95% of all cases [1-3]. It has recently been demonstrated that polycystin-1 and polycystin-2 (encoded by PKD1 and PKD2, respectively) assemble to form a cation channel in vitro [4]. Here we determine that the Caenorhabditis...

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of renal cysts that destroy the kidney. Mutations in PKD1 and PKD2, encoding polycystins-1 and -2, cause ADPKD. Polycystins are thought to function in primary cilia, but it is not well understood how these and other proteins are targeted to cilia. Here, we provide the first genetic and biochemical link between po...

Gout is a common inflammatory arthritis triggered by the presence of monosodium urate (MSU) crystals in joints and connective tissues. Current evidence suggests that heredity contributes to gout progression. It is increasingly assumed that gout occurs when serum uric acid (SUA) levels exceed the physiological saturation threshold for uric acid. This study aims to investigate whether variations ...

結節性硬化症（TSC）に多発性囊胞腎（PKD）を合併する症例（TSC-PKD）の中で，腎予後の不良な TSC2/ PKD1隣接遺伝子症候群の解析は進んでいるが， PKD遺伝子の異常がない症例については不明な点が多い．症例は13歳女児．結節性硬化症の合併症検索中に両側多発性囊胞腎が見つかった． PKD1隣接遺伝子症候群を疑って遺伝子検査を行ったが， TSC2遺伝子と PKD1遺伝子， PKD2遺伝子に異常はなかった．著明な囊胞を持つTSC-PKDでも PKD1と PKD2遺伝子に異常を認めなかったことから， PKD1遺伝子と PKD2遺伝子の異常以外にもPKD発症に関与する因子が存在する可能性が示唆された．さらなる病態解明のため， PKD遺伝子異常のないTSC-PKDの集積と解析が必要である．

Platelets are highly specialized blood cells critically involved in hemostasis and thrombosis. Members of the protein kinase C (PKC) family have established roles in regulating platelet function and thrombosis, but the molecular mechanisms are not clearly understood. In particular, the conventional PKC isoform, PKC , is a major regulator of platelet granule secretion, but the molecular pathway ...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable disease. ADPKD leads to cysts, enlargement and end-stage renal mainly caused by variants in PKD1 PKD2, with truncating causing severe phenotype. This study aimed characterize Danish patients referred for screening of genes related cystic 147 families were analysed PKD1, PKD2 GANAB using next generation sequencing ...