Results 151 to 160 of about 2,524,364 (180)

Kidney organoids as models for hereditary kidney diseases: Toward precision medicine (Review). [PDF]

Exp Ther Med
Cui S, Chen T, Zou Y, Li M, Zhou H, Jiang J, Yang M.   +6 more
europepmc   +1 more source

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm [PDF]

Kidney International, 2004
PKHD1, the autosomal-recessive polycystic kidney disease (ARPKD) gene, encodes multiple alternatively spliced transcripts predicted to generate membrane-bound and secreted proteins. The longest open reading frame encodes polyductin (fibrocystin), a putative 4074 amino acid protein with a single transmembrane domain and an intracellular C-terminus.To ...
Stefan Somlo, Aline Maria da Silva, Yiqiang Cai   +2 more
exaly   +5 more sources

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 [PDF]

Journal of Molecular Medicine, 2014
Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures.
Peter Igarashi, Amber K O'Connor, Gregory Germino   +2 more
exaly   +2 more sources

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Genetic analysis of the PKHD1 gene with long-rang PCR sequencing

Journal of Huazhong University of Science and Technology [Medical Sciences], 2016
PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1
Hang Liu, Hong-Yun Zheng
exaly   +3 more sources

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)

Human Genetics, 2005
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterized by enlarged kidneys and congenital hepatic fibrosis. Given the poor prognosis for the majority of children with the severe perinatal ARPKD phenotype, there is a regular request for prenatal testing.
Dorien Peters, Stefan J White, Monique Losekoot   +2 more
exaly   +3 more sources

An Ashkenazi founder mutation in the PKHD1 gene

European Journal of Medical Genetics, 2016
Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios. Hundreds of private pathogenic variants have been identified in the large PKHD1 gene in various populations.
Adina, Quint, Michal, Sagi, Shai, Carmi, Hagit, Daum, Michal, Macarov, Ziva, Ben Neriah, Vardiela, Meiner, Orly, Elpeleg, Israela, Lerer   +8 more
openaire   +2 more sources

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand‐containing gene as aPKHD1candidate gene

American Journal of Medical Genetics, 2002
AbstractAutosomal recessive polycystic kidney disease (ARPKD) is an often devastating form of polycystic kidney disease that presents primarily in infancy. The locus,PKHD1(polycystic kidney and hepatic disease 1), on chromosome 6p21.1–p12, has been linked to all classical forms of this disorder.
Luiz F, Onuchic, Michal, Mrug, Xiaoying, Hou, Thomas, Eggermann, Carsten, Bergmann, Klaus, Zerres, Ellis D, Avner, Laszlo, Furu, Stefan, Somlo, Yasuyuki, Nagasawa, Gregory G, Germino, Lisa M, Guay-Woodford   +11 more
openaire   +2 more sources

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees [PDF]

Kidney International, 2003
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.BackgroundAutosomal-recessive polycystic kidney disease (ARPKD) is an important neonatal nephropathy characterized by fusiform dilation of collecting ...
Roser Torra, Peter C Harris, Eliecer Coto   +2 more
exaly   +2 more sources

PKHD1 Gene Silencing May Cause Cell Abnormal Proliferation through Modulation of Intracellular Calcium in Autosomal Recessive Polycystic Kidney Disease

BMB Reports, 2007
Autosomal recessive polycystic kidney disease (ARPKD) is one of the important genetic disorders in pediatric practice. Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD. The gene encodes a 67-exon transcript for a large protein of 4074 amino acids termed fibrocystin, but its function remains ...
Sizhong Zhang
exaly   +4 more sources

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) [PDF]

Kidney International, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).BackgroundARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12.
Jan Senderek, Tomáš Seeman, Carsten Bergmann   +2 more
exaly   +2 more sources