Recombinant Human Fibrocystin (PKHD1), partial

1. Case Report: bioinformatics tools correctly predicted the pathogenicity of PKHD1 missense mutation in autosomal recessive polycystic kidney disease. PMID: 27595491
2. SEven novel mutations in PKHD1 gene were identified in 15 Chinese families with polycystic kidney disease. PMID: 28578020
3. This report expands the spectrum of PKHD1 mutations in probands with autosomal recessive polycystic kidney disease and confirms the allelic heterogeneity of this disorder. PMID: 27225849
4. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR. This method was compared to the screening method with standard direct sequencing of each individual exon of the gene by a reference laboratory in 15 patients with ARPKD PMID: 27752906
5. Data show that the compound heterozygous mutations of c.11314C>T from mother and a missense c.889T>A from father of the polycystic kidney and hepatic disease 1 protein (PKHD1) gene were identified in the fetus. PMID: 27577217
6. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. PMID: 26385851
7. Study tested 7 families with fetus or newborn affected with autosomal recessive polycystic kidney disease, variant c.3761_3762delCCinsG, an indel variant resulting in frameshift p.Ala1254GlyfsX49 was detected in 9 parents (5 families). PMID: 26721323
8. Data indicate that seventeen different polycystic kidney and hepatic disease 1 (autosomal recessive) protein (PKHD1) mutations (5 novel) were detected, including deletion of one exon. PMID: 26695994
9. Our data provide strong evidence that the p.M627K substitution at the PKHD1 locus is a founder mutation for Autosomal recessive polycystic kidney disease in the Afrikaner population PMID: 25193386
10. A novel c.9059T>C mutation in PKHD1 gene expands mutation spectrum for autosomal recessive polycystic kidney disease. PMID: 25153916
11. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 PMID: 24984783
12. PKHD1 mutations in a Chinese twin family with Caroli disease. PMID: 24710345
13. Report PKHD1 mutations in autosomal recessive polycystic kidney disease leading to alterations in genetic transcription. PMID: 25104275
14. The cytoplasmic tail of fibrocystin modulates the PI3K/Akt/mTOR pathway and the cleaved C-tail regulates the function of the full-length protein. PMID: 24851866
15. PKHD1 mutations were detected in three children with autosomal recessive polycystic kidney disease with PCR and direct sequencing. PMID: 25124979
16. miR-365-1 modulated PKHD1 suppressed cell-cell adhesion in part through E-cadherin PMID: 22411058
17. Data identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD. PMID: 22882926
18. 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 PMID: 21945273
19. 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. PMID: 21274727
20. Multiplex ligation-dependent probe amplification is a sensitive and rapid method to identify PKHD1 deletions. PMID: 20575693
21. PKHD1 localizes to the mitotic spindle in patients with autosomal recessive polycystic kidney disease. PMID: 20554582
22. There is wide variability in severity of renal disease among patients carrying the same PKHD1 mutations, even within the same family. PMID: 20413436
23. the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease PMID: 19940839
24. Data suggest that fibrocystin-1 is a component of the normal focal adhesion complex and that actin and fibrocystin-1 are lost from autosomal recessive polycystic kidney disease complexes. PMID: 19923420
25. PKHD1 sequencing results on 78 ARPKD/CHF patients from 68 families, is reported. PMID: 19914852
26. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. PMID: 11898128
27. characterization of mutation in autosomal recessive polycystic kidney disease PMID: 11919560
28. Map position is consistent with putative association with autosomal recessive polycystic kidney PMID: 12079288
29. Mutations in 110 alleles. Mutations scattered throughout gene without evidence of clustering at specific sites. All missense mutations were nonconservative. All with two truncating mutations displayed severe phenotype with perinatal or neonatal demise. PMID: 12506140
30. In cultured renal cells, the PKHD1 gene product colocalized with polycystin-2, the gene product of autosomal dominant polycystic disease type 2. PMID: 14983006
31. The detection of three different products using two antisera, with evidence for distinct subcellular localizations, suggests that PKHD1 encodes membrane-bound and soluble isoforms. PMID: 15458427
32. the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain has a role in Pkhd1 (ARPKD) gene transcription and renal cystogenesis PMID: 15647252
33. PKHD1 deletions account for a detectable proportion of autosomal recessive polycystic kidney disease cases PMID: 16199545
34. The intracellular C-terminus of fibrocystin interacts with CAML, a protein with an intracellular distribution that is similar to that of PKD2. PMID: 16243292
35. PKHD1 mutations are involved in the pathogenesis of all typical forms of autosomal recessive polycystic kidney disease (ARPKD). PMID: 17160262
36. PKHD1 gene product polyductin/fibrocystin undergoes a complicated pattern of Notch-like proteolytic processing and is shed from the cilia to the lumen. PMID: 17470460
37. Mutations in this gene are not linked to renal-hepatic-pancreatic dysplasia in a case report. PMID: 17593545
38. These results suggest that the loss of fibrocystin may lead to abnormal proliferation in kidney epithelial cells and cyst formation in autosomal recessive polycystic kidney disease by modulation of intracellular Ca(2+). PMID: 17669261
39. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. PMID: 19021639
40. These results represent the first systematic study of polyductin expression in human pathologies associated with abnormal development of intrahepatic biliary tree. PMID: 19292732
41. These observations should provide an important platform for determining FPC function and the pathogenesis of autosomal recessive polycystic kidney disease. PMID: 19524688

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HGNC: 9016

OMIM: 263200

KEGG: hsa:5314

STRING: 9606.ENSP00000360158

UniGene: Hs.662050