Results 151 to 160 of about 3,398 (180)

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

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

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

PKHD1mutations in autosomal recessive polycystic kidney disease (ARPKD)

Human Mutation, 2004
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive into adulthood.
Bergmann, C., Senderek, J., Küpper, F., Schneider, F., Dornia, C., Windelen, E., Eggermann, T., Rudnik-Schöneborn, S., Kirfel, J., Furu, L., Onuchic, L., Rossetti, S., Harris, P., Somlo, S., Guay-Woodford, L., Germino, G., Moser, M., Büttner, R., Zerres, K.   +18 more
openaire   +3 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

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD

Pediatric Nephrology, 2014
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) occurs in 1:20,000 live births. Disease expression is widely variable, with approximately 30 % of affected neonates dying perinatally, while others survive to adulthood. Mutations at the PKHD1 locus are responsible for all typical presentations.
Lindsay, Lambie, Rasheda, Amin, Fahmida, Essop, Avital, Cnaan, Amanda, Krause, Lisa M, Guay-Woodford   +5 more
openaire   +2 more sources

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

Pediatric Nephrology, 2013
Genetic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is challenging due to the length and allelic heterogeneity of the PKHD1 gene. Mutations appear to be clustered at specific exons, depending on the geographic origin of the patient.
Roser Torra, Elisabet Ars, Jose Ballarin
exaly   +5 more sources

A new epitope-tagged Pkhd1 allele sheds light on fibrocystin signaling

Kidney International, 2017
In this issue of Kidney International, Outeda et al. present a new epitope-tagged allele of murine Pkhd1 that allows the monitoring of functional fibrocystin in vivo from the extreme C-terminus of the molecule. This work also shows that the removal of two-thirds of the intracellular tail of fibrocystin does not result in cystogenesis in either the ...
Wendy A, Lea, Christopher J, Ward
openaire   +2 more sources

Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1

Current Opinion in Nephrology and Hypertension, 2002
Recent developments have helped elucidate the function of the autosomal dominant polycystic kidney disease proteins, polycystin-1 and polycystin-2, and have revealed the primary defect in autosomal recessive polycystic kidney disease, by positional cloning of the gene, PKHD1.
openaire   +2 more sources

Clinical Characterization of Monoallelic-PKHD1 Subjects

Journal of the American Society of Nephrology, 2022
Tabinda Jawaid, Christian Hanna, Sarah R. Senum, Charles D. Madsen, Vicente E. Torres, Peter C. Harris   +5 more
openaire   +1 more source