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

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

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

http://www.wikidata.org/entity/Q28590393

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Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells A polycystin-centric view of cyst formation and disease: the polycystins revisited ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Polycystin-1: a master regulator of intersecting cystic pathways Polycystic liver diseases: advanced insights into the molecular mechanisms Polycystic kidney disease - where gene dosage counts Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis Predicting human genetic interactions from cancer genome evolution E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease Ancestral components of admixed genomes in a Mexican cohort.N-glycosylation determines the abundance of the transient receptor potential channel TRPP2 Murine Models of Polycystic Kidney Disease.Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.microRNA biomarkers in cystic diseases.MicroRNAs and Polycystic Kidney Disease.Kidney: polycystic kidney disease.Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins.Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism Aberrant glycosylation and localization of polycystin-1 cause polycystic kidney in an AQP11 knockout model.Pyrrolidine dithiocarbamate reduces the progression of total kidney volume and cyst enlargement in experimental polycystic kidney disease.Altered trafficking and stability of polycystins underlie polycystic kidney disease.Short-hairpin RNA library: identification of therapeutic partners for gefitinib-resistant non-small cell lung cancer.Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.Polycystic diseases in visceral organs.Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity.Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse Identification of Biomarkers for PKD1 Using Urinary Exosomes.Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice.Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.Hepatocystin is Essential for TRPM7 Function During Early Embryogenesis.Regulation of polycystin-1 ciliary trafficking by motifs at its C-terminus and polycystin-2 but not by cleavage at the GPS site Mutation of sec63 in zebrafish causes defects in myelinated axons and liver pathology Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex.Targeted rescue of a polycystic kidney disease mutation by lysosomal inhibition.Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease.

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P2860

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

http://www.wikidata.org/entity/Q28590393

description

2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունիսին հրատարակված գիտական հոդված

@hy

articolo scientifico

@it

artículu científicu espublizáu en 2011

@ast

im Juni 2011 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 2011/06/19)

@sk

vědecký článek publikovaný v roce 2011

@cs

wetenschappelijk artikel (gepubliceerd op 2011/06/19)

@nl

наукова стаття, опублікована в червні 2011

@uk

name

A genetic interaction network ...... determinant of cyst formation

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A genetic interaction network ...... determinant of cyst formation

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A genetic interaction network ...... determinant of cyst formation

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type

label

A genetic interaction network ...... determinant of cyst formation

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A genetic interaction network ...... determinant of cyst formation

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A genetic interaction network ...... determinant of cyst formation

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prefLabel

A genetic interaction network ...... determinant of cyst formation

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A genetic interaction network ...... determinant of cyst formation

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A genetic interaction network ...... determinant of cyst formation

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Nature Genetics

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A genetic interaction network ...... determinant of cyst formation

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P2093

Anna-Rachel Gallagher

http://www.w3.org/2001/XMLSchema#string

Craig M. Crews

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Lin Geng

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Michihiro Mitobe

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Saori Nishio

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Seung Hun Lee

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Sorin V. Fedeles

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Stefan Somlo

http://www.w3.org/2001/XMLSchema#string

Xin Tian

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Yiqiang Cai

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P2860

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

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

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1

One step at a time: endoplasmic reticulum-associated degradation

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

Sec63p and Kar2p are required for the translocation of SRP-dependent precursors into the yeast endoplasmic reticulum in vivo.

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

Mutations in SEC63 cause autosomal dominant polycystic liver disease

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

P2888

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639–647

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scholarly article

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3703645

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10.1038/NG.860

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7

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43

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2011-06-19T00:00:00Z

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232774088

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21685914

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Polycystin 1, transient receptor poteintial channel interacting

Protein kinase C substrate 80K-H

Polycystin 2, transient receptor potential cation channel

SEC63-like (S. cerevisiae)

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3547075

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