Results 161 to 167 of about 2,901 (167)

Abstract 3675: Loss of Pkhd1 promotes intestinal tumorigenesis in Apc mice

Cancer Research, 2016
Abstract Objectives: PKHD1 (Polycystic Kidney and Hepatic Disease 1), a causal gene for ARPKD (Autosomal Recessive Polycystic Kidney Disease), has been proposed to play a role in the colorectal carcinogenesis. This study is to explore the role of PKHD1 in colorectal carcinogenesis. Methods: Mouse model with Pkhd1 mutation (
Bo Hu, Wei Li, Qingchao Qiu, Zhengxi He, Xiusheng He, Guanqing Wu   +5 more
openaire   +1 more source

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD

Pediatric Nephrology, 2014
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) occurs in 1:20,000 live births. Disease expression is widely variable, with approximately 30 % of affected neonates dying perinatally, while others survive to adulthood. Mutations at the PKHD1 locus are responsible for all typical presentations.
Lindsay, Lambie, Rasheda, Amin, Fahmida, Essop, Avital, Cnaan, Amanda, Krause, Lisa M, Guay-Woodford   +5 more
openaire   +2 more sources

Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes

Gene
The orchestration of fetal kidney development involves the precise control of numerous genes, including HNF1A, HNF1B and PKHD1. Understanding the genetic factors influencing fetal kidney development is essential for unraveling the complexities of renal disorders.
Mayssa, Abdelwahed, Valerie, Benoit, Bayen, Maalej, Pascale, Hilbert, Laurence Michel, Calemard, Hassen, Kamoun, Leila, Ammar-Keskes, Neila, Belguith   +7 more
openaire   +2 more sources

[From gene to disease; PKHD1 and recessive polycystic kidney disease].

Nederlands tijdschrift voor geneeskunde, 2005
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterised by enlarged kidneys and congenital hepatic fibrosis. The disease has an incidence of 1:7000-:20,000 and is caused by mutations in the PKHD1 gene, which under normal conditions produces the protein fibrocystin, also named polyductin.
D J M, Peters, M, Losekoot, C E M, de Die-Smulders, M, Stevens-Baldewijns, M H, Breuning   +4 more
openaire   +1 more source

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants

Pediatric Nephrology
Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis.A 3-month-old girl suspected to have a milk protein allergy underwent an ultrasound that revealed increased echogenicity in the kidney pyramids suggestive of medullary NC ...
Paola Krall, Víctor Faundes, Carla Gálvez, Felipe Cavagnaro   +3 more
openaire   +2 more sources

Mutation Position and Genetic Background Modulate Disease Expression in Pkhd1 Mouse Models

Journal of the American Society of Nephrology, 2021
Maryanne Odinakachukwu, Chaozhe Yang, Zsuzsanna M. Bebok, Lisa M. Guay-Woodford   +3 more
openaire   +1 more source

Suppression of pkhd1 impairs survival in cultured kidney tubular cells.

2009
MANGOLINI, Alessandra, M. Bogo, AGUIARI, Gianluca, C. Durante, BORGATTI, Monica, GAMBARI, Roberto, DEL SENNO, Laura   +6 more
openaire   +1 more source