نتایج جستجو برای: pkd1 gene
تعداد نتایج: 1141754 فیلتر نتایج به سال:
Little is known about the serine/threonine kinase protein kinase D (PKD)1 in mast cells. We sought to define ligands that activate PKD1 in mast cells and to begin to address the contributions of this enzyme to mast cell activation induced by diverse agonists. Mouse bone marrow-derived mast cells (BMMC) contained both PKD1 mRNA and immunoreactive PKD1 protein. Activation of BMMC through TLR2, Ki...
Abstract Background and Aims Renal cystic disease (RCD) includes a spectrum of disorders with heterogenous clinical presentation. Among RCD are autosomal dominant polycystic kidney (ADPKD), recessive (ARPKD), ciliopathies, HNF1B-nephropathy, congenital anomalies the kidneys urinary tract (CAKUT). Diagnosis is based on criteria, yet, given extreme genetic heterogeneity phenotypic overlap among d...
We examined whether class IIa histone deacetylases (HDACs) play a role in mitogenic signaling mediated by protein kinase D1 (PKD1) in IEC-18 intestinal epithelial cells. Our results show that class IIa HDAC4, HDAC5, and HDAC7 are prominently expressed in these cells. Stimulation with ANG II, a potent mitogen for IEC-18 cells, induced a striking increase in phosphorylation of HDAC4 at Ser(246) a...
OBJECTIVE We performed an association study to identify gene polymorphisms for assessing the genetic risk of ischemic or hemorrhagic stroke. METHODS AND RESULTS The study population comprised 3151 unrelated Japanese individuals: 1141 stroke patients (636 with atherothrombotic cerebral infarction, 282 with intracerebral hemorrhage, and 223 with subarachnoid hemorrhage) and 2010 controls. The g...
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.
Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very similar, except that ADPKD1 patients run a more severe course. At the cellular level, ADPKD1 was first shown to be recessive, since somatic second hits are perhaps necessary for ...
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
Protein kinase D (PKD) is a novel family of serine/threonine kinases targeted by the second messenger diacylglycerol. It has been implicated in many important cellular processes and pathological conditions. However, further analysis of PKD in these processes is severely hampered by the lack of a PKD-specific inhibitor that can be readily applied to cells and in animal models. We now report the ...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-ge...
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