Results 171 to 180 of about 3,318 (192)

Corrigendum to "Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease" [Kidney International Reports Volume 7, Issue 4, April 2022, Pages 916-919]. [PDF]

Kidney Int Rep
Letavernier E, Schwoehrer M, Livrozet M, Saint-Jacques C, Raymond L, Saraeva R, Haymann JP, Frochot V, Daudon M, Mesnard L.   +9 more
europepmc   +1 more source

Ciliary Ion Channels in Polycystic Kidney Disease. [PDF]

Cells
Alshriem LA, Buqaileh R, Alorjani Q, AbouAlaiwi W.   +3 more
europepmc   +1 more source

Distinct cerebrospinal fluid DNA methylation signatures linked to Alzheimer’s disease

Rados M, Klotz S, Regelsberger G, Stögmann E, Landegger LD, Fetahu IS.   +5 more
europepmc   +1 more source

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as aPKHD1 candidate 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   +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   +4 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.
Monique Losekoot, Cathleen Haarloo, Claudia Ruivenkamp, Stefan J. White, Martijn H. Breuning, Dorien J.M. Peters   +5 more
openalex   +4 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

[From gene to disease; PKHD1 and recessive polycystic kidney disease].

Nederlands tijdschrift voor geneeskunde, 2005
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterised by enlarged kidneys and congenital hepatic fibrosis. The disease has an incidence of 1:7000-:20,000 and is caused by mutations in the PKHD1 gene, which under normal conditions produces the protein fibrocystin, also named polyductin.
Peters Dj, Monique Losekoot, de Die-Smulders Ce, M Stevens-Baldewijns, Breuning Mh   +4 more
openalex   +2 more sources