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PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2004
Mutations of the polycystic kidney and hepatic disease 1 ( PKHD1 ) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized.
Gilbert W Moeckel, Matthew D. Breyer, Yasuni Nakanuma   +2 more
exaly   +3 more sources

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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

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

Clinical Genetics, 2004
Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only. Although haplotype‐based analysis is feasible in most cases, it is associated with a risk of misdiagnosis in families without ...
Zerres, K., Senderek, J., Rudnik-Schoneborn, S., Eggermann, T., Kunze, J., Mononen, T., Kaariainen, H., Kirfel, J., Moser, M., Buettner, R., Bergmann, C.   +10 more
openaire   +3 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

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2017
To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was
Yanbao, Xiang, Huanzheng, Li, Chenyang, Xu, Xueqin, Dong, Xueqin, Xu, Chong, Chen, Shaohua, Tang   +6 more
openaire   +1 more source

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Journal of Human Genetics, 2019
Autosomal recessive polycystic kidney disease (ARPKD), is a rare hepatorenal fibrocystic disorder primarily associated with progressive growth of multiple cysts in the kidneys causing progressive loss of renal function. The disease is linked to mutations in the PKHD1 gene.
Jing, Chen, Na, Ma, Xiaomeng, Zhao, Wen, Li, Qianjun, Zhang, Shimin, Yuan, Yue-Qiu, Tan, Guangxiu, Lu, Ge, Lin, Juan, Du   +9 more
openaire   +2 more sources

[Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells.
Qinying, Cao, Weixia, Zhang, Jun, Ge, Donglan, Sun, Qingqi, Feng, Caixia, Li, Yucui, Meng, Junzhen, Zhu   +7 more
openaire   +1 more source

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Clinical and Experimental Nephrology, 2021
Tomohiko Yamamura, Masafumi Matsuo, Koichi Nakanishi   +2 more
exaly  

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

Clinical Case Reports (discontinued), 2023
Ignatia B Van den Veyver, Weimin Bi, Manisha Gandhi   +2 more
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