PKHD1Polycystic Kidney and Hepatic Disease 1 (genetics)
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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Correlation of Kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification.
en otros organos Musculo liso, esqueletico y cardiaco Enfermedad renal poliquistica (PKD) Tipo Enfermedad renal poliquistica autosomica recesiva (ARPKD) Subtipo Locus 6p21.1-p12 Gen PKHD1 Tamano del 86 exones gen Proteina Fibrocistina Funcion de Proteina transmembrana la Se desconoce el proteina ligando Expresion Rinon, ducto biliar y proteica pancreas.
Autosomal recessive polycystic kidney disease is a cystic variant of PKD emerging from mutations in the PKHD1 gene.
Phenotypic variability in ARPKD patients can be explained by the nature of PKHD1 gene itself; alternative splicing of its 86 exons assembles a variable number of transcripts with the longest being fibrocystin/polyductin.
(98) In mice bearing a homozygous deletion in Pkhd1 and a single mutation in Pkd1, the ARPKD-PKD mosaic phenotype was more severe than if any 1 of the 2 genes was mutated separately, while 2 transallelic mutations in Pkd1 resulted in embryonic lethality.
It is remarkable that more than 35% of mutations observed in PKHD1 are not recurrent and segregate within specific families.
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.
Mutation of hepatocyte nuclear factor-1 beta inhibits Pkhd1 gene expression and produces renal cysts in mice.
(3) Patient has mitochondrial disorder in the absence of classical TFC2 or PKHD1 mutations.