Results 51 to 60 of about 2,524,364 (180)

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

Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease

Stem Cell Research, 2022
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the ...
Mingyang Sun, Jian Li, Shunlai Shang, Xueyuan Bai, Guangyan Cai, Qinggang Li   +5 more
doaj   +1 more source

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing

Frontiers in Genetics, 2021
Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy.
Yanjing Wu, Yongle Wu, Kun Liu, Hui Liu, Shanshan Wang, Jian Huang, Huiguo Ding   +6 more
doaj   +1 more source

Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney. [PDF]

, 2012
The transcription factor HNF1B, encoded by the TCF2 gene, plays an important role in the organogenesis of vertebrates. In humans, heterozygous mutations of HNF1B are associated with several diseases, such as pancreatic β-cell dysfunction leading to ...
Sauert, Kathrin, Gull, Mazhar, André W Brändli, Christoph Waldner, Brändli, André W., Mazhar Gull, Roose, Magdalena, Gerhart U. Ryffel (177327), Kathrin Sauert (177290), Kahnert, Stefan, Ryffel, Gerhart U., Waldner, Christoph, Kathrin Sauert, Magdalena Roose, Magdalena Roose (177306), Stefan Kahnert (177298), Gerhart U Ryffel, André W. Brändli (177322), Stefan Kahnert, Christoph Waldner (177333), Mazhar Gull (177314)   +20 more
core   +2 more sources

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Molecular Genetics & Genomic Medicine, 2022
Background Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations.
Carola Giacobbe, Fabiola Di Dato, Daniela Palma, Michele Amitrano, Raffaele Iorio, Giuliana Fortunato   +5 more
doaj   +1 more source

Transcriptomics of Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease Using PCK Rats

Livers, 2023
Congenital hepatic fibrosis/Autosomal recessive polycystic kidney disease (CHF/ARPKD) is an inherited neonatal disease induced by mutations in the PKHD1 gene and characterized by cysts and robust pericystic fibrosis in the liver and kidneys.
Satyajeet Khare, Lu Jiang, Diego Paine-Cabrera, Udayan Apte, Michele T. Pritchard   +4 more
doaj   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Coincidence the Autosomal Recessive Polycystic Kidney Disease With Placenta Membranacea (A Probably Genetic Relation with PKHD1 Gene) [PDF]

Zahedan Journal of Research in Medical Sciences, 2016
: Placenta membranacea is one of the most barley anomalies happens in pregnancy defined by chorionic villi (partially or completely) covered the fetus membrane. Autosomal recessive polycystic kidney disease in fetus is also a rare case with an incidence of 1: 20,000 live births resulting in a 30% death rate in neonates. In this case for the first time,
Ehsan Hosseini, Samira mis Ghavam, Mohammad Reza Hafezi-Ahmadi   +2 more
openaire   +1 more source

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +1 more source