Results 31 to 40 of about 2,428 (197)
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
Emerging Therapies for Childhood Polycystic Kidney Disease
Frontiers in Pediatrics, 2017 Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
doaj +1 more source
EGF-related growth factors in the pathogenesis of murine ARPKD [PDF]
Kidney International, 2004 Epidermal growth factor (EGF), transforming growth factor-alpha (TGF-alpha) and their receptor, EGFR, play key roles in polycystic kidney disease (PKD) pathogenesis. Renal expression of two related growth factors, amphiregulin and heparin-binding EGF, has not been examined previously in PKD.
Katherine, MacRae Dell +3 more
openaire +2 more sources
The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activation [PDF]
, 2020 Autosomal recessive polycystic kidney disease (ARPKD) is mainly caused by variants in the PKHD1 gene, encoding fibrocystin (FC), a large transmembrane protein of incompletely understood cellular function. Here, we show that a C-terminal fragment of human
Göbel, Heike +23 more
core +1 more source
Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene, PKHD1 [PDF]
Pediatric Research, 2002 Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene ...
openaire +2 more sources
Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman
BMC Nephrology, 2020 Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi +5 more
doaj +1 more source
, 2016 Big data–like analysis of multiple blood and urine-based biomarkers of renal injury/dysfunction yielded a calculator for estimating CI in ARPKD.
Prakash Narayan (3190710) +3 more
core +1 more source
Liver cysts in human ARPKD fetuses do not exhibit increased proliferation.
, 2015 (A)(Upper panels) Comparison of WT and ARPKD fetal livers. Tissue sections were stained with DAPI. Cysts in ARPKD fetuses almost entirely surround the portal vein. Asterisks indicate cysts and ducts.
Frédéric P. Lemaigre (763139) +5 more
core +1 more source
Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait
HeliyonBackground: Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity.
Mariam E. Alhaddad +11 more
doaj +1 more source
Scientific Reports, 2021 Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 cpk/cpk (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD).
Chaozhe Yang +13 more
doaj +1 more source