Results 151 to 160 of about 2,901 (167)

PKHD1mutations in autosomal recessive polycystic kidney disease (ARPKD)

Human Mutation, 2004
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive into adulthood.
Bergmann, C., Senderek, J., Küpper, F., Schneider, F., Dornia, C., Windelen, E., Eggermann, T., Rudnik-Schöneborn, S., Kirfel, J., Furu, L., Onuchic, L., Rossetti, S., Harris, P., Somlo, S., Guay-Woodford, L., Germino, G., Moser, M., Büttner, R., Zerres, K.   +18 more
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Genetic analysis of the PKHD1 gene with long-rang PCR sequencing

Journal of Huazhong University of Science and Technology [Medical Sciences], 2016
PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1
Yong-Qing, Tong, Bei, Liu, Chao-Hong, Fu, Hong-Yun, Zheng, Jian, Gu, Hang, Liu, Hong-Bo, Luo, Yan, Li   +7 more
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Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand‐containing gene as aPKHD1candidate gene

American Journal of Medical Genetics, 2002
AbstractAutosomal recessive polycystic kidney disease (ARPKD) is an often devastating form of polycystic kidney disease that presents primarily in infancy. The locus,PKHD1(polycystic kidney and hepatic disease 1), on chromosome 6p21.1–p12, has been linked to all classical forms of this disorder.
Luiz F, Onuchic, Michal, Mrug, Xiaoying, Hou, Thomas, Eggermann, Carsten, Bergmann, Klaus, Zerres, Ellis D, Avner, Laszlo, Furu, Stefan, Somlo, Yasuyuki, Nagasawa, Gregory G, Germino, Lisa M, Guay-Woodford   +11 more
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A new epitope-tagged Pkhd1 allele sheds light on fibrocystin signaling

Kidney International, 2017
In this issue of Kidney International, Outeda et al. present a new epitope-tagged allele of murine Pkhd1 that allows the monitoring of functional fibrocystin in vivo from the extreme C-terminus of the molecule. This work also shows that the removal of two-thirds of the intracellular tail of fibrocystin does not result in cystogenesis in either the ...
Wendy A, Lea, Christopher J, Ward
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Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1

Current Opinion in Nephrology and Hypertension, 2002
Recent developments have helped elucidate the function of the autosomal dominant polycystic kidney disease proteins, polycystin-1 and polycystin-2, and have revealed the primary defect in autosomal recessive polycystic kidney disease, by positional cloning of the gene, PKHD1.
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Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

American Journal of Medical Genetics Part A, 2015
Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter‐ and intra‐familial phenotypic variability.
Jean-Benoît, Courcet, Anne, Minello, Fabienne, Prieur, Laurent, Morisse, Jean-Marc, Phelip, Alain, Beurdeley, Daniel, Meynard, Denis, Massenet, Flore, Lacassin, Yannis, Duffourd, Nadège, Gigot, Judith, St-Onge, Patrick, Hillon, Claire, Vanlemmens, Christiane, Mousson, Jean-Pierre, Cerceuil, Boris, Guiu, Julien, Thevenon, Christel, Thauvin-Robinet, Emmanuel, Jacquemin, Jean-Baptiste, Rivière, Laurence, Michel-Calemard, Laurence, Faivre   +22 more
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Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways

Experimental Cell Research, 2011
Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD). Fibrocystin/polyductin (FPC), encoded by PKHD1, is a membrane-associated receptor-like protein. Although it is widely accepted that cystogenesis is mostly due to aberrant cell proliferation and apoptosis, it is still ...
Liping, Sun, Shixuan, Wang, Chaofeng, Hu, Xinzhou, Zhang   +3 more
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Inhibition of PKHD1 may cause S‐phase entry via mTOR signaling pathway

Cell Biology International, 2009
AbstractAutosomal recessive polycystic kidney disease (ARPKD) is an important genetic disorder in pediatric nephrological practice. Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD. Rapamycin is a highly specific inhibitor of mammalian target of rapamycin (mTOR).
Rong, Zheng, Li, Wang, Junming, Fan, Qin, Zhou   +3 more
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PKHD1 post‐transcriptionally modulated by miR‐365‐1 inhibits cell‐cell adhesion

Cell Biochemistry and Function, 2012
Autosomal recessive polycystic kidney disease (ARPKD) is a severe inherited disorder with an incidence of 1/20 000 live births. Mutations of PKHD1 (polycystic kidney and hepatic disease gene 1) gene were identified to be responsible for ARPKD. However, the underlying molecular mechanisms remain largely unknown.
Jingjing, Duan, Huizhe, Huang, Xiaoyan, Lv, Honglian, Wang, Ziwei, Tang, Huan, Sun, Qingwei, Li, Jianzhong, Ai, Ruizhi, Tan, Yuhang, Liu, Mianzhi, Chen, Weiwei, Duan, Yuquan, Wei, Qin, Zhou   +13 more
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Clinical Characterization of Monoallelic-PKHD1 Subjects

Journal of the American Society of Nephrology, 2022
Tabinda Jawaid, Christian Hanna, Sarah R. Senum, Charles D. Madsen, Vicente E. Torres, Peter C. Harris   +5 more
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