gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Polycystic kidney and hepatic disease 1

PKHD1, fibrocystin, polyductin
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] (from NCBI)
Sponsored links
Top mentioned proteins: PC2, HAD, PC1, CAN, AGE
Papers on PKHD1
An Ashkenazi founder mutation in the PKHD1 gene.
New
Lerer et al., Jerusalem, Israel. In Eur J Med Genet, Jan 2016
UNASSIGNED: Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios.
Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis.
New
Strazzabosco et al., Milano, Italy. In Hepatology, Jan 2016
CHF is caused by mutations in PKHD1, a gene encoding for fibrocystin, a ciliary protein expressed in cholangiocytes.
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
New
Faivre et al., Dijon, France. In Am J Med Genet A, Dec 2015
Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability.
Clinical manifestations of autosomal recessive polycystic kidney disease.
Review
New
Hoyer, Essen, Germany. In Curr Opin Pediatr, Apr 2015
PURPOSE OF REVIEW: To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene.
Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.
Fujii et al., Japan. In Bmc Med Genet, 2014
This case suggests the potential usefulness of target exome sequencing in the prenatal diagnosis of the PKHD1 gene in ARPKD.
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Stekrova et al., Praha, Czech Republic. In Bmc Med Genet, 2014
ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin.
Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients.
Li et al., Tianjin, China. In Genet Mol Res, 2014
We found that CAMTA1, ABI2, VHL, KAT2B, PKHD1, ESR1, TOX, SLC30A8, SFI1, and MYH9 polymorphisms were associated with HbA1c, FPG, and/or P2PG; GCK, HHEX, TCF7L2, KCNQ1, and TBX5 polymorphisms were associated with insulin resistance-related traits; ABCG2, SLC2A9, and PKHD1 polymorphisms were associated with SUA; CAMTA1, VHL, KAT2B, PON1, NUB1, SLITRK5, SMAD3, FTO, FANCA, and PCSK2 polymorphisms were associated with blood lipid traits; CAMTA1, SPAG16, TOX, KCNQ1, ACACB, and MYH9 polymorphisms were associated with blood pressure; and UBE2E3, SPAG16, SLC2A9, CDKAL1, CDKN2A/B, TCF7L2, SMAD3, and PNPLA3 polymorphisms were associated with BMI (all P values <0.05).
The construction of cDNA library and the screening of related antigen of ascitic tumor cells of ovarian cancer.
Shan et al., In Eur J Gynaecol Oncol, 2014
They were then divided into six categories: (1) the homologous genes which related to the known ovarian cancer genes, such as BARD 1 gene, etc; (2) the homologous genes which were associated with other tumors, such as TM4SFI gene, etc; (3) the genes which were expressed in a special organization, such as ILF3, FXR1 gene, etc; (4) the genes which were the same with some protein genes of special function, such as TIZ, ClD gene; (5) the homologous genes which possessed the same source with embryonic genes, such as PKHD1 gene, etc; (6) the remaining genes were the unknown genes without the homologous sequence in the gene pool, such as OV-189 genes.
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.
Review
Hoyer et al., Essen, Germany. In Pediatr Nephrol, 2014
Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6.
[Gene analysis and literature review of autosomal recessive polycystic kidney disease].
Review
Qiu et al., Beijing, China. In Zhonghua Er Ke Za Zhi, 2013
An analysis of the PKHD1 genes was made on the patient, and then verified by polymerase chain reaction (PCR).
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
GeneRIF
Gahl et al., Bethesda, United States. In Mol Genet Metab, 2011
Our data suggest that carrier status for PKHD1 mutations in autosomal recessive polycystic kidney disease is a predisposition to polycystic liver disease and renal involvement
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
Impact
Somlo et al., New Haven, United States. In Nat Genet, 2011
Reduced expression of polycystin-1 also serves to sensitize the kidney to cyst formation resulting from mutations in Pkhd1, the recessive polycystic kidney disease gene.
Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways.
GeneRIF
Zhang et al., Shenzhen, China. In Exp Cell Res, 2011
Data suggest that the PI3K/Akt pathway is involved in apoptotic function in PKHD1-silenced cells, and PI3K/Akt inhibition correlates with upregulation of NF-kappaB activity.
Germline PKHD1 mutations are protective against colorectal cancer.
GeneRIF
Boardman et al., Rochester, United States. In Hum Genet, 2011
Screening for the most common PKHD1 mutation (T36M) in a European cohort indicated that heterozygous PKHD1 mutations are not a risk factor but rather are protective for colorectal cancer.
Nephronophthisis.
Review
Hildebrandt et al., Dallas, United States. In Pediatr Nephrol, 2011
Recent publications have described ciliary expression of nephrocystins together with other cystoproteins, such as polycystins 1 and 2 and fibrocystin.
Cystogenesis in ARPKD results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys.
GeneRIF
Wu et al., Hengyang, China. In Exp Cell Res, 2011
Mutations in the Pkhd1 gene result in autosomal recessive polycystic kidney disease (ARPKD) in humans.
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.
GeneRIF
Messiaen et al., Birmingham, United States. In Genet Test Mol Biomarkers, 2010
Multiplex ligation-dependent probe amplification is a sensitive and rapid method to identify PKHD1 deletions.
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.
Impact
Ibraghimov-Beskrovnaya et al., Framingham, United States. In Nature, 2007
Autosomal recessive polycystic kidney disease results from mutations in the PKHD1 gene, affects newborn infants and progresses very rapidly.
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Impact
GeneRIF
Harris et al., Rochester, United States. In Nat Genet, 2002
characterization of mutation in autosomal recessive polycystic kidney disease
Polycystic Kidney Disease, Autosomal Recessive
Review
Avner et al., Seattle, United States. In Unknown Journal, 2001
PKHD1 is the only gene in which mutation is known to be associated with ARPKD.
share on facebooktweetadd +1mail to friends