Autosomal dominant polycystic kidney disease (ADPKD) is a common disease among different population in worldwide. Mutations in the PKD1 gene on 16p13.3 are responsible for ~85% of cases of polycytic kidney disease. Until now, more than 1000 single nucleotide polymorphism (SNP) have been reported as genetic marker in different population. Hence, the study aimed to C/T polymorphism in PKD1 gene. ...

Mutations in PKD1 result in autosomal dominant polycystic kidney disease, which is characterized by increased proliferation of tubule cells leading to cyst initiation and subsequent expansion. Given the cell proliferation associated with cyst growth, an attractive therapeutic strategy has been to target the hyperproliferative nature of the disease. We previously demonstrated that the small mole...

BACKGROUND Angiotensin II (Ang II) induces the phenotypic modulation and hypertrophy of vascular smooth muscle cells (VSMCs), which is implicated in the pathogenesis of hypertension, atherosclerosis, and diabetes. In this study, we tested the hypothesis that histone deacetylases 5 (HDAC5) and its signal pathway play a role in Ang II-induced VSMC hypertrophy. METHODS AND RESULTS VSMCs were iso...

In the heart, scaffolding proteins such as A-Kinase Anchoring Proteins (AKAPs) play a crucial role in normal cellular function by serving as a signaling hub for multiple protein kinases including protein kinase D1 (PKD1). Under cardiac hypertrophic conditions AKAP13 anchored PKD1 activates the transcription factor MEF2 leading to subsequent fetal gene activation and hypertrophic response. We us...

The vast majority (~99%) of all known cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by naturally occurring mutations in two separate, but genetically interacting loci, pkd1 and pkd2. Pkd1 encodes a large multispanning membrane protein (PKD1) of an unknown function, while pkd2 encodes a protein (TRPP2, Polycystin-2, or PKD2) of the transient receptor potential (TRP) su...

Polycystin-1 (PKD1) mutations account for approximately 85% of autosomal dominant polycystic kidney disease (ADPKD). We have shown previously that oocyte surface expression of a transmembrane fusion protein encoding part of the cytoplasmic COOH terminus of PKD1 increases activity of a Ca2+-permeable cation channel. We show here that human ADPKD mutations incorporated into this fusion protein at...

Abstract Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian diseases, that can progress to end-stage failure. Pathological variants in PKD1 or PKD2 genes are found about 78% 15% respectively. Additional such as GANAB, DNAJB11, ALG8/5 have been identified ADPKD. The sequencing by short read technics with exome capture Exome (ES) has descr...

Protein kinase D (PKD) is a novel family of serine/threonine kinases regulated by diacylglycerol, which is involved in multiple cellular processes and various pathological conditions. The limited number of cell-active, selective inhibitors has historically restricted biochemical and pharmacological studies of PKD. We now markedly expand the PKD1 inhibitory chemotype inventory with eleven additi...

Hypersensitivity pneumonitis is an interstitial lung disease that results from repeated pulmonary exposure to various organic Ags, including Saccharopolyspora rectivirgula, the causative agent of farmer's lung disease. Although the contributions of proinflammatory mediators to the disease pathogenesis are relatively well documented, the mechanism(s) involved in the initiation of proinflammatory...

Protein kinase D1 (PKD1) is a serine-threonine kinase that regulates various functions within the cell, including cell proliferation, apoptosis, adhesion, and cell motility. In normal cells, this protein plays key roles in multiple signaling pathways by relaying information from the extracellular environment and/or upstream kinases and converting them into a regulated intracellular response. Th...