Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
about
Polycystic liver diseases: advanced insights into the molecular mechanismsFindings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?Alkaline phosphatase predicts response in polycystic liver disease during somatostatin analogue therapy: a pooled analysis.Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver DiseaseCHD2 variants are a risk factor for photosensitivity in epilepsyProliferation-Independent Initiation of Biliary Cysts in Polycystic Liver Diseases.Hepatocystin is Essential for TRPM7 Function During Early Embryogenesis.LRP5 variants may contribute to ADPKDLDL Receptor-Related Protein 6 Modulates Ret Proto-Oncogene Signaling in Renal Development and Cystic Dysplasia.Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.Therapeutic Targets in Polycystic Liver Disease.Isolated polycystic liver disease genes define effectors of polycystin-1 function.Increased YAP Activation Is Associated With Hepatic Cyst Epithelial Cell Proliferation in ARPKD/CHF.Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.Polycystic Liver Disease: The interplay of genes causative for hepatic and renal cystogenesis.Polymorphism in LRP5 (rs556442) is associated with higher TG levels in Iranian children.Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes
P2860
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P2860
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
description
2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@ast
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@en
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@nl
type
label
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@ast
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@en
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@nl
prefLabel
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@ast
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@en
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@nl
P2093
P2860
P50
P356
P1476
Whole-exome sequencing reveals ...... ated with hepatic cystogenesis
@en
P2093
Carsten Bergmann
Joost P H Drenth
Melissa Chrispijn
René H M te Morsche
Soufi Mehdi
Wybrich R Cnossen
P2860
P304
P356
10.1073/PNAS.1309438111
P407
P577
2014-04-08T00:00:00Z