Results 61 to 70 of about 3,912 (211)

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease. [PDF]

BMC Med Genet, 2015
In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios.
Miyazaki J, Ito M, Nishizawa H, Kato T, Minami Y, Inagaki H, Ohye T, Miyata M, Boda H, Kiriyama Y, Kuroda M, Sekiya T, Kurahashi H, Fujii T.   +13 more
europepmc   +4 more sources

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

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

Identification of the salmonid IL-17A/F1a/b, IL-17A/F2b, IL-17A/F3 and IL-17N genes and analysis of their expression following in vitro stimulation and infection [PDF]

, 2015
Peer ...
Husain, Mansourah, Jiang, Yousheng, Secombes, Christopher J., Wang, Alex, Wang, Tiehui, Xu, Qiaoqing   +5 more
core   +1 more source

TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways in hepatocellular carcinoma [PDF]

, 2015
This study systematically evaluates the TCGA whole-transcriptome sequencing data of hepatocellular carcinoma (HCC) by comparing the global gene expression profiles between tumors and their corresponding nontumorous liver tissue. Based on the differential
Ho, DWH, Kai, AKL, Ng, IOL
core   +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

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]

, 2014
Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core   +1 more source

Fine Mapping of the Autosomal Recessive Polycystic Kidney Disease Locus (PKHD1) and the Genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.1–p12

Genomics, 1998
A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1) for the autosomal recessive polycystic kidney disease (ARPKD), using a combination of recombination mapping and linkage analysis in 164 families.
Gabi Mücher, Jutta Becker, Michael Knapp, Reinhard Büttner, Markus Moser, Sabine Rudnik‐Schöneborn, Stefan Somlo, Gregory G. Germino, Luiz F. Onuchic, Ellis D. Avner, Lisa M. Guay‐Woodford, Klaus Zerres   +11 more
openalex   +3 more sources

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

PLoS ONE, 2023
Background and aimGene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.Patients and methodsBoth paediatric (n = 33) and adult (
Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa   +23 more
doaj   +1 more source

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

Scientific Reports, 2017
Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hypertension, and ...
Jun-ya Kaimori, Cheng-Chao Lin, Patricia Outeda, Miguel A. Garcia-Gonzalez, Luis F. Menezes, Erum A. Hartung, Ao Li, Guanqing Wu, Hideaki Fujita, Yasunori Sato, Yasuni Nakanuma, Satoko Yamamoto, Naotsugu Ichimaru, Shiro Takahara, Yoshitaka Isaka, Terry Watnick, Luiz F. Onuchic, Lisa M. Guay-Woodford, Gregory G. Germino   +18 more
doaj   +1 more source