Results 41 to 50 of about 3,398 (180)

Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease [PDF]

Annals of Translational Medicine, 2021
Autosomal dominant polycystic liver disease (ADPLD) is characterized by multiple cysts in the liver without (or only occasional) renal cysts. At least seven genes are associated with high risk for developing ADPLD; however, clear genetic involvement is undetermined in more than 50% of ADPLD patients.To identify additional ADPLD-associated genes, we ...
Wang, Jiaru, Yang, Huayu, Guo, Ruohan, Sang, Xinting, Mao, Yilei   +4 more
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DataSheet1_Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1.pdf

, 2023
Transcription factor Ap2b (TFAP2B), an AP-2 family transcription factor, binds to the palindromic consensus DNA sequence, 5′-GCCN3-5GGC-3’. Mice lacking functional Tfap2b gene die in the perinatal or neonatal period with cystic dilatation of the kidney ...
Maoqing Wu (496050), Lisa M. Guay-Woodford (14392467), Amber K. O’Connor (14392464), Naoe Harafuji (414811), Ljubica Caldovic (181710)   +4 more
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Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease [PDF]

Journal of Human Genetics, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown function.
Carsten, Bergmann, Valeska, Frank, Fabian, Küpper, Christa, Schmidt, Jan, Senderek, Klaus, Zerres   +5 more
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Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Research, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric kidney disorder primarily caused by mutations in the fibrocystin-encoding PKHD1 gene.
Mansoureh Tabatabaeifar, Theresa Leonie Fluhr, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +5 more
doaj   +1 more source

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report

American Journal of Case Reports, 2023
BACKGROUND The polycystic kidney and hepatic disease 1 (PKHD1) gene codes for fibrocystin-polyductin, a protein that takes part in cell-signaling for cell differentiation, especially in kidney tubules and bile ducts. A homozygous or compound heterozygous defect in this gene can cause autosomal recessive polycystic kidney disease (ARPKD).
Van Buren, Jacob D., Neuman, Jeremy T., Sidlow, Richard   +2 more
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD) [PDF]

, 2023
A thesis submitted in partial fulfilment of the requirements of the University of Wolverhampton for the degree of Doctor of Philosophy.The main gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) is PKHD1 which encodes a ciliary ...
Richards, Taylor
core   +2 more sources

Truncating PKHD1 and PKD2 mutations alter energy metabolism [PDF]

American Journal of Physiology-Renal Physiology, 2019
Deficiency in polycystin 1 triggers specific changes in energy metabolism. To determine whether defects in other human cystoproteins have similar effects, we studied extracellular acidification and glucose metabolism in human embryonic kidney (HEK-293) cell lines with polycystic kidney and hepatic disease 1 ( PKHD1) and polycystic kidney disease (PKD)
Phillip, Chumley, Juling, Zhou, Sylvie, Mrug, Balu, Chacko, John M, Parant, Anil K, Challa, Landon S, Wilson, Taylor F, Berryhill, Stephen, Barnes, Robert A, Kesterson, P Darwin, Bell, Victor M, Darley-Usmar, Bradley K, Yoder, Michal, Mrug   +13 more
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Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene

Stem Cell Research, 2021
Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from
Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +5 more
doaj   +1 more source

Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) [PDF]

Journal of the American Society of Nephrology, 2003
Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD.
Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., Rudnik-Schoneborn, S., Furu, L., Onuchic, L., De Baca, M., Germino, G., Guay-Woodford, L., Somlo, S., Moser, M., Buttner, R., Zerres, K.   +15 more
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Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

BMC Nephrology, 2020
Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer   +3 more
doaj   +1 more source