Results 161 to 170 of about 3,398 (180)

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

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

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

[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

Frequent genetic alterations of TTN, PLXNA2 and PKHD1 in giant cell glioblastoma

2016
Objective: Giant cell glioblastoma (gcGBM), characterized by the predominance of bizarre multinucleated giant cells, is a rare variant of GBM, accounting for less than 5%. They develop in younger patients de novo after a short clinical history. They tend to be well delineated and carry a better[for full text, please go to the a.m. URL]
Pierscianek, D, Kim, YH, El Hindy, N, Sure, U, Ohgaki, H   +4 more
openaire   +1 more source

Cleavage of Pkhd1 Results in a Small Fragment That Localizes and Functions Within Mitochondria

Journal of the American Society of Nephrology, 2022
Rebecca V. Walker, Anthony R. Maranto, Patricia Outeda, Hangxue Xu, Terry J. Watnick, Feng Qian   +5 more
openaire   +1 more source

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

Kidney International, 2004
Stefan Somlo, Aline Maria da Silva, Yiqiang Cai   +2 more
exaly  

PKHD1 post-transcriptionally modulated by miR-365-1 inhibits cell-cell adhesion

Cell Biochemistry and Function, 2012
Xiaoyan Lv
exaly  

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene†

American Journal of Medical Genetics, Part A, 2002
Gregory Germino, Luiz F Onuchic, Lisa M Guay-Woodford   +2 more
exaly  

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)†‡

Human Mutation, 2005
Jan Senderek, Frank Schneider, Carsten Bergmann   +2 more
exaly