Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects

W Lu, X Shen, A Pavlova, M Lakkis… - Human molecular …, 2001 - academic.oup.com
A high level of polycystin-1 expression is detected in kidneys of all patients with autosomal
dominant polycystic kidney disease (ADPKD). Mice that overexpress polycystin-1 also …

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1

O Ibraghimov-Beskrovnaya, NO Bukanov… - Human molecular …, 2000 - academic.oup.com
The 14 kb mRNA of the polycystic kidney disease gene PKD1 encodes a novel large (~ 460
kDa) protein, polycystin-1, of unknown function that is responsible for autosomal dominant …

Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1

A Lumiaho, R Ikäheimo, R Miettinen… - American journal of …, 2001 - Elsevier
Patients with autosomal dominant polycystic kidney disease (ADPKD) have an increased
occurrence of cardiac valve abnormalities. However, the prevalence of cardiac …

The etiology, pathogenesis, and treatment of autosomal dominant polycystic kidney disease: recent advances

JJ Grantham - American journal of kidney diseases, 1996 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in at least
three different genes: PKD1, PKD2, and PKD3. ADPKD1 is an inherited disorder that has led …

Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development

V Chauvet, F Qian, N Boute, Y Cai… - The American journal of …, 2002 - Elsevier
Autosomal-dominant polycystic kidney disease, one of the most frequent human genetic
disorders, is genetically heterogeneous. Most cases result from mutations of PKD1 or PKD2 …

Cystic canal mutants in Caenorhabditis elegans are defective in the apical membrane domain of the renal (excretory) cell

M Buechner, DH Hall, H Bhatt, EM Hedgecock - Developmental biology, 1999 - Elsevier
The excretory cell extends a tubular process, or canal, along the basolateral surface of the
epidermis to form the nematode renal epithelium. This cell can undergo normal …

The genetics and physiology of polycystic kidney disease

JP Calvet, JJ Grantham - Seminars in nephrology, 2001 - seminarsinnephrology.org
Autosomal dominant polycystic kidney disease (ADPKD) is a major, inherited disorder that is
characterized by the growth of large, fluid-filled cysts from the tubules and collecting ducts of …

Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains

R Sandford, B Sgotto, S Aparicio… - Human molecular …, 1997 - academic.oup.com
PKD1 is the major locus of the common genetic disorder autosomal dominant polycystic
kidney disease (ADPKD). Analysis of the predicted protein sequence of the human PKD1 …

[HTML][HTML] Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation

S Nishio, M Hatano, M Nagata, S Horie… - The Journal of …, 2005 - Am Soc Clin Investig
Autosomal dominant polycystic kidney disease (ADPKD) is the most common human
monogenic genetic disorder and is characterized by progressive bilateral renal cysts and the …

Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells

MS Scheffers, P van der Bent, F Prins… - Human molecular …, 2000 - academic.oup.com
Polycystin-1 is a novel protein predicted to be a large membrane-spanning glycoprotein with
an extracellular N-terminus and an intracellular C-terminus, harboring several structural …