|
1
|
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
|
Am J Hum Genet
|
2006
|
3.52
|
|
2
|
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.
|
EMBO J
|
2005
|
2.12
|
|
3
|
Molecular pathogenesis of autosomal dominant polycystic kidney disease.
|
Expert Rev Mol Med
|
2006
|
1.28
|
|
4
|
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
|
Eur J Hum Genet
|
2006
|
1.26
|
|
5
|
Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
|
Eur J Hum Genet
|
2004
|
1.26
|
|
6
|
The transient receptor potential channels TRPP2 and TRPC1 form a heterotetramer with a 2:2 stoichiometry and an alternating subunit arrangement.
|
J Biol Chem
|
2009
|
1.17
|
|
7
|
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.
|
Hum Mol Genet
|
2009
|
1.03
|
|
8
|
Analysis of published PKD1 gene sequence variants.
|
Nat Genet
|
2007
|
0.98
|
|
9
|
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
|
Nat Genet
|
2008
|
0.98
|
|
10
|
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
|
J Med Genet
|
2011
|
0.98
|
|
11
|
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
|
J Mol Med (Berl)
|
2005
|
0.89
|
|
12
|
Glomerular and proximal tubule cysts as early manifestations of Pkd1 deletion.
|
Nephrol Dial Transplant
|
2009
|
0.85
|
|
13
|
Troponin I binds polycystin-L and inhibits its calcium-induced channel activation.
|
Biochemistry
|
2003
|
0.84
|
|
14
|
Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study.
|
BMC Nephrol
|
2014
|
0.80
|
|
15
|
Atomic force microscopy imaging reveals the domain structure of polycystin-1.
|
Biochemistry
|
2012
|
0.80
|
|
16
|
More than colocalizing with polycystin-1, polycystin-L is in the centrosome.
|
Am J Physiol Renal Physiol
|
2006
|
0.80
|
|
17
|
Identification of phosphoproteins in kidney tissues from patients with autosomal dominant polycystic kidney disease.
|
Proteomics Clin Appl
|
2008
|
0.78
|
|
18
|
Polycystin-2 induces a conformational change in polycystin-1.
|
Biochemistry
|
2013
|
0.76
|
|
19
|
NOS3 as a potential modifier of ADPKD phenotypic variability: progress towards an answer.
|
Nephrology (Carlton)
|
2014
|
0.75
|
|
20
|
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
|
Am J Hum Genet
|
2017
|
0.75
|