Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
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Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney DiseaseWhole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli diseaseMutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in miceAutosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).Non-synonymous variations in cancer and their effects on the human proteome: workflow for NGS data biocuration and proteome-wide analysis of TCGA data.Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.Polycystic kidney disease.Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effectsMolecular diagnostics for autosomal dominant polycystic kidney diseasePolycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Transcriptional complexity in autosomal recessive polycystic kidney disease.Disease stage characterization of hepatorenal fibrocystic pathology in the PCK rat model of ARPKDMolecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney diseaseIncompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.Rationale, design and objectives of ARegPKD, a European ARPKD registry studyMurine models of polycystic kidney disease: molecular and therapeutic insights.Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease.Cystic kidney diseases: all roads lead to the cilium.Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.New advances in evaluation and management of patients with polycystic liver disease.Cystic kidney diseases: many ways to form a cyst.Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family historyCiliary dysfunction in polycystic kidney disease: an emerging model with polarizing potentialRole of genetic modifiers in an orthologous rat model of ARPKD.Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.Potential role of Akt signaling in chronic kidney disease.An approach to cystic kidney diseases: the clinician's view.Imaging in ductal plate malformations.Loss of inversin decreases transepithelial sodium transport in murine renal cells.Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.Caroli's syndrome with autosomal recessive polycystic kidney disease in a two month old infant.Two modes for concentrating urine in rat inner medulla.
P2860
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P2860
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Spectrum of mutations in the g ...... kidney disease (ARPKD/PKHD1).
@en
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease
@nl
type
label
Spectrum of mutations in the g ...... kidney disease (ARPKD/PKHD1).
@en
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease
@nl
prefLabel
Spectrum of mutations in the g ...... kidney disease (ARPKD/PKHD1).
@en
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease
@nl
P2093
P50
P1476
Spectrum of mutations in the g ...... kidney disease (ARPKD/PKHD1).
@en
P2093
Beate Sedlacek
Carsten Bergmann
Ioannis Pegiazoglou
Klaus Zerres
Laszlo Furu
Lisa Guay-Woodford
Markus Moser
Monica De Baca
Patricia Puglia
Reinhard Büttner
P356
10.1097/01.ASN.0000039578.55705.6E
P577
2003-01-01T00:00:00Z