Results 31 to 40 of about 3,398 (180)
Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1 [PDF]
The American Journal of Pathology, 2008 Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and the biliary tract. Mutations in the PKHD1 gene are responsible for typical forms of autosomal recessive polycystic kidney disease. We have generated a mouse model with targeted mutation of Pkhd1 by disrupting exon 4, resulting in a mutant ...
Anna-Rachel, Gallagher +9 more
openaire +2 more sources
, 2023 Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Heather Gordish-Dressman (54143) +12 more
core +1 more source
, 2023 Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Heather Gordish-Dressman (54143) +12 more
core +1 more source
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics [PDF]
, 2023 Background: Autosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation.
Münch, Johannes +5 more
core +4 more sources
Frontiers in Genetics, 2023 Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao +6 more
doaj +1 more source
, 2023 Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Heather Gordish-Dressman (54143) +12 more
core +1 more source
, 2023 Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Heather Gordish-Dressman (54143) +12 more
core +1 more source
Inhibition ofPkhd1Impairs Tubulomorphogenesis of Cultured IMCD Cells [PDF]
Molecular Biology of the Cell, 2005 Fibrocystin/polyductin (FPC), the gene product of PKHD1, is responsible for autosomal recessive polycystic kidney disease (ARPKD). This disease is characterized by symmetrically large kidneys with ectasia of collecting ducts. In the kidney, FPC predominantly localizes to the apical domain of tubule cells, where it associates with the basal bodies ...
Weiyi, Mai +13 more
openaire +2 more sources
Clinical Case Reports, 2023 We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1.
Takuya Sakyu +7 more
doaj +1 more source
, 2023 Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1 gene,
Heather Gordish-Dressman (54143) +12 more
core +1 more source