Results 171 to 180 of about 3,912 (211)

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child. [PDF]

Oman Med J
Al Alawi I, Al Shehhi M, Al Riyami MS, Al Kalbani N, Al Hosni A, Al Mimani A, Al Salmi I, Sayer JA.   +7 more
europepmc   +1 more source

Polycystic Kidney Disease in Children: The Current Status and the Next Horizon. [PDF]

Am J Kidney Dis
Cadnapaphornchai MA, Dell KM, Gimpel C, Guay-Woodford LM, Gulati A, Hartung EA, Liebau MC, Mallett AJ, Marlais M, Mekahli D, Piccirilli A, Seeman T, Tindal K, Winyard PJD.   +13 more
europepmc   +1 more source

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Nephron
Henein M, Russo F, Sentell ZT, Goupil R, Kitzler TM.   +4 more
europepmc   +1 more source

Reversal of elevatedGli3in Autosomal Recessive Polycystic Kidney Disease does not alter cystogenesis

Russell LG, Kolatsi-Joannou M, Wilson L, Chandler JC, Tejedor NP, Stagg G, Price KL, Rowan CJ, Crompton T, Rosenblum ND, Winyard PJ, Long DA.   +11 more
europepmc   +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
Yasuyuki Nagasawa, Sonja Matthiesen, Luiz F. Onuchic, Xiaoying Hou, Carsten Bergmann, Ernie Esquivel, Jan Senderek, Zhiyong Ren, Raoul Zeltner, Laszlo Furu, Ellis D. Avner, Markus Moser, Stefan Somlo, Lisa M. Guay‐Woodford, Reinhard Büttner, Klaus Zerres, Gregory G. Germino   +16 more
openalex   +4 more sources

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
Yongqing Tong, Bei Liu, Chao-hong Fu, Hongyun Zheng, Jian Gu, Hang Liu, Hongbo Luo, Yan Li   +7 more
openalex   +3 more sources

Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) [PDF]

Journal of the American Society of Nephrology, 2003
Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD.
Carsten Bergmann, Jan Senderek, Beate Sedlacek, Ioannis Pegiazoglou, Patricia Puglia, Thomas Eggermann, Sabine Rudnik-Sch�neborn, Laszlo Furu, Luiz F. Onuchic, Monica de Baca, Gregory G. Germino, Lisa M. Guay‐Woodford, Stefan Somlo, Markus Moser, Reinhard BuCombining Diaeresisttner, Klaus Zerres   +15 more
openalex   +4 more sources

An Ashkenazi founder mutation in the PKHD1 gene

European Journal of Medical Genetics, 2015
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
openalex   +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
openalex   +3 more sources

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

Clinical Genetics, 2004
Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only. Although haplotype‐based analysis is feasible in most cases, it is associated with a risk of misdiagnosis in families without ...
Klaus Zerres, Jan Senderek, Sabine Rudnik‐Schöneborn, Thomas Eggermann, J. Kunze, Tarja Mononen, H Kääriäinen, J Kirfel, Markus Moser, Reinhard Buettner, Carsten Bergmann   +10 more
openalex   +4 more sources