Results 41 to 50 of about 2,901 (167)

AVTOSOMNO RECESIVNA POLICISTIČNA BOLEZEN LEDVIC

Slovenska pediatrija, 2022
Avtosomno recesivna policistična bolezen ledvic je genetska bolezen, ki jo uvrščamo v skupino ciliopatij. Vzrok je mutacija v genu PKHD1, ki kodira membransko beljakovino fibrocistin ali poliduktin, pomembno za normalno delovanje cilij.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

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
openaire   +2 more sources

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, 2023
We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1.
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi   +7 more
doaj   +1 more source

Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes

Frontiers in Medicine, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Chengxian Xu, Chenxi Yang, Qing Ye, Jie Xu, Lingxiao Tong, Yuchen Zhang, Huijun Shen, Zhihong Lu, Jingjing Wang, Enyin Lai, Jianhua Mao, Jianhua Mao, Pingping Jiang, Pingping Jiang, Pingping Jiang   +14 more
doaj   +1 more source

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method. [PDF]

Turk J Med Sci
Gezgin Y, Kirnaz B, Baylarov R, Berdeli A.   +3 more
europepmc   +3 more sources

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [PDF]

Journal of Medical Genetics, 2005
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important childhood nephropathy, occurring in 1 in 20 000 live births.1 The clinical phenotype is dominated by dilatation of the renal collecting ducts, biliary dysgenesis, and portal tract fibrosis. Affected children often present in utero with enlarged, echogenic kidneys, as well
Angela Sharp, Ludwine Messiaen, Grier P. Page, Corinne Antignac, Marie-Claire Gübler, Luiz F. Onuchic, Stefan Somlo, Gregory G. Germino, Lisa M. Guay‐Woodford   +8 more
openalex   +3 more sources

Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

PLoS ONE, 2014
BackgroundMutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts.
Xiwei Hao, Shiguo Liu, Qian Dong, Hong Zhang, Jing Zhao, Lin Su   +5 more
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Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans [PDF]

Folia Medica, 2020
We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM).
Artur Kowalik, Andrzej Wincewicz, Sebastian Zięba, Janusz Kopczynski, Mariusz Koda, Stanisław Sulkowski, Luiza Kańczuga-Koda, Stanisław Góźdź   +7 more
doaj   +3 more sources

Epitope-Tagged Pkhd1 Tracks the Processing, Secretion, and Localization of Fibrocystin [PDF]

Journal of the American Society of Nephrology, 2011
Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the mouse protein impairs the study of splicing, post-translational processing, shedding, and temporal and spatial expression of endogenous fibrocystin at the cellular and subcellular ...
Bakeberg, J.L., Tammachote, R., Woollard, J.R., Hogan, M.C., Tuan, H.F., Li, M., Deursen, J.M.A. van, Wu, Y., Huang, B.Q., Torres, V.E., Harris, P.C., Ward, C.J.   +11 more
openaire   +2 more sources

The tyrosine-kinase inhibitor Nintedanib ameliorates autosomal-dominant polycystic kidney disease

Cell Death and Disease, 2021
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive growth of fluid-filled cysts. Growth factors binding to receptor tyrosine kinases (RTKs) stimulate cell proliferation and
Abeda Jamadar, Sreenath M. Suma, Sijo Mathew, Timothy A. Fields, Darren P. Wallace, James P. Calvet, Reena Rao   +6 more
doaj   +1 more source