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A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

published in: Nature Genetics

date of publication: 2011-06-19

language: English

main subject: SEC63-like (S. cerevisiae), Polycystin 2, transient receptor potential cation channel, Protein kinase C substrate 80K-H, Polycystin 1, transient receptor potential channel interacting, cyst

Cites articles 53

Date

Title

Authors

2011-01-01

Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
2010-01-01

PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation

Albrecht Kramer-Zucker
2009-06-25

Structural and molecular basis of the assembly of the TRPP2/PKD1 complex

Yong Yu, Liang Tong
2009-12-23

Polycystic kidney disease, cilia, and planar polarity

Gregory Germino
2009-12-04

Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models
2009-12-03

Loss of oriented cell division does not initiate cyst formation

Vishal Patel, Peter Igarashi
2009-09-23

A novel mouse model reveals that polycystin-1 deficiency in ependyma and choroid plexus results in dysfunctional cilia and hydrocephalus

Isaline Rowe, Marco Chiaravalli, Alessandra Boletta
2009-09-18

ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice
2009-07-15

Glucosidase II beta subunit modulates N-glycan trimming in fission yeasts and mammals
2009-01-21

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Lesley Rees
2008-12

One step at a time: endoplasmic reticulum-associated degradation
2008-01-01

Ciliary dysfunction in developmental abnormalities and diseases
2008-10-03

Syntaxin 5 regulates the endoplasmic reticulum channel-release properties of polycystin-2.

Wolfgang Boehmerle
2008-02-09

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia

Vishal Patel, Peter Igarashi
2008-02-07

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1

Peter Igarashi
2008-01-17

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1

Luiz F Onuchic
2007-10-28

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

Gregory Germino
2007-06-16

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway

Luiz F Onuchic, Gregory Germino
2007-04-01

Polyductin undergoes notch-like processing and regulated release from primary cilia

Luiz F Onuchic, Gregory Germino
2006-01-15

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Neil V Morgan, Paul Gissen, Richard C Trembath, Tania Attié-Bitach, Eamonn R Maher, C Geoffrey Woods
2006-01-01

Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1

Si-Tse Jiang, Ming-Jer Tang
2004-06

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Olivier Devuyst, Helena Kääriäinen
2004

Roles of N-linked glycans in the endoplasmic reticulum
2004-10-20

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

Hans Baelde, Wouter N Leonhard
2004-01-01

Optimization of hypolipidemic and antiplatelet treatment in the diabetic patient with renal disease
2003-03

Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

Juan S. Bonifacino
2003-01-15

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease
2003-02-01

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

Weining Lu, Donald E. Ingber
2003-01-01

Clinical profile of autosomal dominant polycystic liver disease
2003-08-12

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

Roser Torra
2002-12-13

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations

Gregory Germino, Alessandra Boletta
2002-06-04

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

Gregory J. Pazour

Article - wd:Q28590393

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