PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
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Liver and kidney disease in ciliopathiesMicroRNAs in the pathogenesis of cystic kidney diseaseThe ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expressionPolyductin undergoes notch-like processing and regulated release from primary ciliaMutations 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.Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.LPXTG protein InlJ, a newly identified internalin involved in Listeria monocytogenes virulence.Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effectsPolycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Transcriptional complexity in autosomal recessive polycystic kidney disease.MALDI imaging MS reveals candidate lipid markers of polycystic kidney diseaseIncompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.The spectrum of polycystic kidney disease in children.Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Cystic kidney diseases: many ways to form a cyst.Regulation of transport in the connecting tubule and cortical collecting ductDiagnosis, pathogenesis, and treatment prospects in cystic kidney disease.Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.TRPV4 dysfunction promotes renal cystogenesis in autosomal recessive polycystic kidney disease.Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategiesGlis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.Gli-similar proteins: their mechanisms of action, physiological functions, and roles in disease.Fetal genitourinary imaging.DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?An approach to cystic kidney diseases: the clinician's view.Review of combined liver and kidney transplantation in children.Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis).Inhibition of intrahepatic bile duct dilation of the polycystic kidney rat with a novel tyrosine kinase inhibitor gefitinib.Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease.Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).Recent advances in the molecular diagnosis of polycystic kidney disease.A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.
P2860
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P2860
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@ast
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@en
type
label
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@ast
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@en
prefLabel
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@ast
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@en
P2093
P50
P356
P1433
P1476
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
@en
P2093
Carsten Bergmann
Christian Dornia
Ellen Windelen
Fabian Küpper
Frank Schneider
Jutta Kirfel
Klaus Zerres
Laszlo Furu
Lisa Guay-Woodford
Markus Moser
P304
P356
10.1002/HUMU.20029
P577
2004-05-01T00:00:00Z