Results 41 to 50 of about 2,428 (197)

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

Rationale, design and objectives of ARegPKD, a European ARPKD registry study [PDF]

, 2015
Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently severe disorder that is typically characterized by cystic kidneys and congenital hepatic fibrosis but displays pronounced phenotypic heterogeneity.
Göbel, Heike, Illig, T, Ariceta, G, Dötsch, J, Illig, Thomas,, Yuzbasioglu, A, Mekahli, Djalila, Ranchin, Bruno, Zerres, Klaus, Sander, A, Jankauskiene, Augustina, Hero, Barbara, Zerres, Klaus,, Koenig, Jens, Yuzbasioglu, Ayse, Duzova, Ali,, Testa, S, Ebner, K, Sander, Anja, Feldkoetter, Markus,, Ebner, Kathrin,, Feldkoetter, M, Liebau, Max Christoph ,, Ariceta, Gema, Jankauskiene, A, Goebel, H, Schaefer, F, Feldkoetter, Markus, Haffner, D, Büttner, Reinhard, Hoppe, B, Testa, Sara,, Doetsch, Joerg, Weber, LT, Duzova, A, Weber, Lutz, Bergmann, Carsten, Wicher, Dorota,, Mekahli, Djalila,, Litwin, M, Goebel, Heike,, Goebel, Heike, GPN, Study, Jankauskienė, Augustina,, Schaefer, Franz, König, Jens, Testa, Sara, Zerres, K, Buettner, Reinhard,, Weber, LutzThorst, Doyon, A, Yuzbasioglu, Ayse,, Weber, Lutz Thorsten, Illig, Thomas, Wicher, Dorota, Ebner, Kathrin, Mekahli, D, Hero, Barbara,, Hoppe, Bernd, Ranchin, B, Hoppe, Bernd,, Litwin, Mieczyslaw,, Schaefer, Franz,, Liebau, MC, Doyon, Anke, Buettner, Reinhard, Liebau, Max Christoph, Dötsch, Jörg,, Hero, B, ESCAPE, Study, Klopp, Norman,, Duzova, Ali, Litwin, Mieczyslaw, Feldkötter, Markus, Klopp, N, Wicher, D, Buettner, R, König, Jens,, Weber, Lutz Thorsten ,, Bergmann, C, Liebau, Max, König, J, Ariceta, Gema,, Doyon, Anke,, Haffner, Dieter,, Haffner, Dieter, Dötsch, Jörg, Bergmann, Carsten,, Sander, Anja,, Ranchin, Bruno,, Klopp, Norman   +90 more
core   +3 more sources

Liver Organoids: From Disease Modelling to Regenerative Medicine

Cell Proliferation, EarlyView.
Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang, Xiaotian Qu, Jinhong Si, Junkang Meng, Ting Zhang, Shuliang Niu   +5 more
wiley   +1 more source

Modulation of P2X4 receptor activity by ivermectin and 5‐BDBD has no effect on the development of ARPKD in PCK rats

Physiological Reports, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited pathology caused mainly by mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene, which usually leads to end‐stage renal disease.
Biyang Xu, Oksana Nikolaienko, Vladislav Levchenko, Apurva Swapnil Choubey, Elena Isaeva, Alexander Staruschenko, Oleg Palygin   +6 more
doaj   +1 more source

Increased YAP Activation Is Associated With Hepatic Cyst Epithelial Cell Proliferation in ARPKD/CHF

, 2017
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver.
Udayan Apte, Seth Septer, Lu Jiang, Darren P. Wallace, Michele T. Pritchard, Michael Manley, Genea Edwards, Chirag Manohar, Lina Sun   +8 more
core   +1 more source

Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease

Radiology Case Reports, 2019
Caroli syndrome, which is characterized by saccular and fusiform dilatation of the biliary ducts, is usually observed in association with autosomal recessive polycystic kidney disease (ARPKD).
Amanda Rivas, Monica Epelman, MD, Enrico Danzer, MD, N. Scott Adzick, MD, Teresa Victoria, MD, PhD   +4 more
doaj   +1 more source

An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. [PDF]

PLoS ONE, 2016
Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Jake A Nieto, Michael A Yamin, Itzhak D Goldberg, Prakash Narayan   +3 more
doaj   +1 more source

Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene [PDF]

Journal of the American Society of Nephrology, 2002
PKHD1, the gene mutated in human autosomal recessive polycystic kidney disease has recently been identified. Its translation products are predicted to belong to a superfamily of proteins involved in the regulation of cellular adhesion and repulsion. One notable aspect of the gene is its unusually complex pattern of splicing. This study shows that mouse
Nagasawa, Y., Matthiesen, S., Onuchic, L., Hou, X., Bergmann, C., Esquivel, E., Senderek, J., Ren, Z., Zeltner, R., Furu, L., Avner, E., Moser, M., Somlo, S., Guay-Woodford, L., Buttner, R., Zerres, K., Germino, G.   +16 more
openaire   +3 more sources

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li, Wenxuan Fan, Nan Liu, Shuyue Zhang, Ping Wang, Chunyu Gu, Jianbo Shu   +6 more
wiley   +1 more source

Disease Stage Characterization of Hepatorenal Fibrocystic Pathology in the PCK Rat Model of ARPKD [PDF]

, 2010
The rat Pck gene is orthologous to the human PKHD1 gene responsible for autosomal recessive polycystic kidney disease (ARPKD). Both renal and hepatic fibrocystic pathology occur in ARPKD. Affected humans have a variable rate of progression, from morbidly
Robin Crisler-Roberts, Eggleston-Gulyas, Tracy, Gattone, Vincent H., II, Harris, Peter C., Vincent H. Gattone, Crisler-Roberts, Robin, Mason, Stephen B., Sinders, Rachel M., Caroline A. Miller, Tracy Eggleston-Gulyas, Miller, Caroline A., Yun Liang, Rachel M. Sinders, Peter C. Harris, Stephen B. Mason, Liang, Yun   +15 more
core   +1 more source