PKD1Autosomal Dominant Polycystic Kidney Disease
PKD1Polycystic Kidney Disease 1 Gene
Copyright 1988-2018, All rights reserved.
References in periodicals archive ?
The polycystin complex (PKD1 and PKD2 encoding polycystin-1 and polycystin-2, respectively) is implicated in the regulation of the cell cycle and holds the key in the pathogenesis of ADPKD.
[7] Human genes: STRC, stereocilin; PMS2, PMS1 homolog 2, mismatch repair system component; PKD1, polycystin 1, transient receptor potential channel interacting; SMN1, survival of motor neuron 1, telomeric; CATSPER2, cation channel sperm associated 2; SMN1, survival of motor neuron 1, telomeric; SMN2, survival of motor neuron 2, centromeric.
RAW264.7 cells were stimulated with 1 [micro]g/ml LPS (Escherichia coli O127:B8, Sigma-Aldrich) whereas 0.001, 0.1, 10, and 100 ng/ml PKD1 (129.3 kDa, Thermo Fisher Scientific, Denmark) were added apically to Caco-2 cells (Figure 1).
Phosphorylation by p38[delta] MAPK negatively regulates the activity of protein kinase D1 (PKD1), a known positive regulator of neuroendocrine cell secretion [72].
PKD1 and PKD2 genes that are mutated in Polycystic Kidney Disease (PKD) are likely to play a role in vessel biology and their dysfunction lead to aneurysm formation.
Citation: "Reduced Ciliary Polycystin-2 in Induced Pluripotent Stem Cells from Polycystic Kidney Disease Patients with PKD1 Mutations"; Benjamin S.
At least there are descriptions of 3 genetic variants of the disease;4 85% of cases (PKD1) are due to an abnormality at chromosome 16q13.3, while 15% (PKD2) are due to an abnormality at chromosome 4q21-23.
Boletta et al., "PKD1 induces p21waf1 and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2," Cell, vol.