PKHD1

Summary

Gene Symbol: PKHD1
Description: PKHD1, fibrocystin/polyductin
Alias: ARPKD, FCYT, FPC, PKD4, TIGM1, fibrocystin, TIG multiple domains 1, fibrocystin/polyductin complex, polycystic kidney and hepatic disease 1 (autosomal recessive), polycystic kidney and hepatic disease 1 protein, polyductin, tigmin
Species: human
Products:     PKHD1

Top Publications

  1. Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429-32 pubmed
    Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases...
  2. Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, et al. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics. 2002;80:96-104 pubmed
    ..We named its gene product "tigmin" because it contains multiple TIG domains, which usually are seen in proteins containing immunoglobulin-like ..
  3. Wang S, Luo Y, Wilson P, Witman G, Zhou J. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol. 2004;15:592-602 pubmed
    ..To determine whether fibrocystin/polyductin/tigmin (FPC), the protein product encoded by the PKHD1 gene that is responsible for autosomal ..
  4. Zhang M, Mai W, Li C, Cho S, Hao C, Moeckel G, et al. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc Natl Acad Sci U S A. 2004;101:2311-6 pubmed
    Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized...
  5. Menezes L, Cai Y, Nagasawa Y, Silva A, Watkins M, da Silva A, et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. 2004;66:1345-55 pubmed
    ..The longest open reading frame encodes polyductin (fibrocystin), a putative 4074 amino acid protein with a single transmembrane domain and an intracellular C-terminus...
  6. Kaimori J, Nagasawa Y, Menezes L, Garcia Gonzalez M, Deng J, Imai E, et al. Polyductin undergoes notch-like processing and regulated release from primary cilia. Hum Mol Genet. 2007;16:942-56 pubmed
    ..Using novel in vitro expression systems, we show that the PKHD1 gene product polyductin/fibrocystin undergoes a complicated pattern of Notch-like proteolytic processing...
  7. Kim I, Li C, Liang D, Chen X, Coffy R, Ma J, et al. Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin. J Biol Chem. 2008;283:31559-66 pubmed publisher
    ..polycystic kidney disease are caused by mutations in Pkd1/Pkd2 and Pkhd1, which encode polycystins (PCs) and fibrocystin/polyductin (FPC)...
  8. Gunay Aygun M, Tuchman M, Font Montgomery E, Lukose L, Edwards H, Garcia A, et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010;99:160-73 pubmed publisher
    ..Its longest open reading frame contains 67 exons that encode a 4074 amino acid protein called fibrocystin or polyductin...
  9. Denamur E, Delezoide A, Alberti C, Bourillon A, Gubler M, Bouvier R, et al. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 2010;77:350-8 pubmed publisher
    ..The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation...

More Information

Publications138 found, 100 shown here

  1. Gunay Aygun M, Font Montgomery E, Lukose L, Tuchman M, Graf J, Bryant J, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 2010;5:972-84 pubmed publisher
    ..Seventy-three fulfilled clinical diagnostic criteria, had at least one PKHD1 mutation, and were prospectively evaluated using magnetic resonance imaging (MRI), high-resolution ultrasonography ..
  2. Onuchic L, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, et al. 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. Am J Hum Genet. 2002;70:1305-17 pubmed
    ..The longest continuous open reading frame encodes a 4,074-amino-acid protein, polyductin, that is predicted to have a single transmembrane (TM)-spanning domain near its carboxyl terminus, ..
  3. Ward C, Hogan M, Rossetti S, Walker D, Sneddon T, Wang X, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30:259-69 pubmed
    ..is expressed in adult and fetal kidney, liver and pancreas and is predicted to encode a large novel protein, fibrocystin, with multiple copies of a domain shared with plexins and transcription factors...
  4. Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol. 2003;14:76-89 pubmed
    ..reading frame (ORF) is encoded by a 67-exon transcript and predicted to yield a 4074-amino acid protein ("polyductin") of thus far unknown function. By now, a total of 29 different PKHD1 mutations have been described...
  5. Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Málaga S, et al. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int. 2003;64:391-403 pubmed
    ..The ARPKD gene, PKHD1, has recently been identified...
  6. Wang S, Zhang J, Nauli S, Li X, Starremans P, Luo Y, et al. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol. 2007;27:3241-52 pubmed
    Recent evidence suggests that fibrocystin/polyductin (FPC), polycystin-1 (PC1), and polycystin-2 (PC2) are all localized at the plasma membrane and the primary cilium, where PC1 and PC2 contribute to fluid flow sensation and may function ..
  7. Zhang J, Wu M, Wang S, Shah J, Wilson P, Zhou J. Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. Hum Mol Genet. 2010;19:3306-19 pubmed publisher
    ..ARPKD is caused by mutations in a single gene PKHD1, which encodes fibrocystin/polyductin (FPC), a large single transmembrane protein generally known to be on the primary cilium, basal body ..
  8. Masyuk T, Masyuk A, Lorenzo Pisarello M, Howard B, Huang B, Lee P, et al. TGR5 contributes to hepatic cystogenesis in rodents with polycystic liver diseases through cyclic adenosine monophosphate/Gαs signaling. Hepatology. 2017;66:1197-1218 pubmed publisher
    ..in OA-treated polycystic kidney rats and after genetic elimination of TGR5 in double mutant TGR5-/- ;Pkhd1del2/del2 mice...
  9. Rediger C, Guerra L, Keays M, Wayne C, Reddy D, Ksara S, et al. Renal cyst evolution in childhood: a contemporary observational study. J Pediatr Urol. 2019;: pubmed publisher
    ..to autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), or malignancy...
  10. Tsunoda T, Kakinuma S, Miyoshi M, Kamiya A, Kaneko S, Sato A, et al. Loss of Fibrocystin Promotes Interleukin-8-Dependent Proliferation and CTGF Production of Biliary Epithelium. J Hepatol. 2019;: pubmed publisher
    ..of polycystic kidney and hepatic disease 1 (PKHD1) causes CHF and the dysfunction of its coding protein, fibrocystin, is associated with ductal plate malformation during fetal development and further pathological changes in CHF ..
  11. Hartung E, Wen J, Poznick L, Furth S, Darge K. Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease. J Pediatr. 2019;: pubmed publisher
    ..hepatic fibrosis and portal hypertension in children with autosomal recessive polycystic kidney disease (ARPKD). Cross-sectional study of 25 children with ARPKD and 24 healthy controls...
  12. Chandar J, Garcia J, Jorge L, Tekin A. Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?. Pediatr Nephrol. 2015;30:1233-42 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) is characterized by enlarged kidneys with dilated collecting ducts and congenital hepatic fibrosis. There is a variable rate of progression of kidney and liver disease...
  13. Badgandi H, Hwang S, Shimada I, Loriot E, Mukhopadhyay S. Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins. J Cell Biol. 2017;216:743-760 pubmed publisher
    ..Using minimal ciliary localization sequences from GPCRs and fibrocystin (also implicated in polycystic kidney disease), we demonstrate these motifs to be sufficient and TULP3 ..
  14. Chen J, Ma N, Zhao X, Li W, Zhang Q, Yuan S, et al. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. J Hum Genet. 2019;64:207-214 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD), is a rare hepatorenal fibrocystic disorder primarily associated with progressive growth of multiple cysts in the kidneys causing progressive loss of renal function...
  15. Tavira B, Gómez J, Málaga S, Santos F, Fernández Aracama J, Alonso B, et al. A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. Gene. 2015;561:165-9 pubmed publisher
    ..recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene. Next generation sequencing (NGS) might thus be of special interest to search for PKHD1 mutations...
  16. Hou Q, Chen K, Shan Z. The construction of cDNA library and the screening of related antigen of ascitic tumor cells of ovarian cancer. Eur J Gynaecol Oncol. 2015;36:590-4 pubmed
    ..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 ..
  17. Szabo T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, et al. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. Pediatr Nephrol. 2018;33:1713-1721 pubmed publisher
    ..Gly4013Alafs*25) presented with a moderate phenotype, indicating that fibrocystin is partially functional in the absence of its C-terminal 62 amino acids...
  18. Zheng R, Wang L, Fan J, Zhou Q. Inhibition of PKHD1 may cause S-phase entry via mTOR signaling pathway. Cell Biol Int. 2009;33:926-33 pubmed publisher
    ..Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD...
  19. Palygin O, Ilatovskaya D, Levchenko V, Klemens C, Dissanayake L, Williams A, et al. Characterization of purinergic receptor expression in ARPKD cystic epithelia. Purinergic Signal. 2018;14:485-497 pubmed publisher
    ..PCK/CrljCrl-Pkhd1pck/CRL (PCK) rat, an established model of autosomal recessive polycystic kidney disease (ARPKD), was used here to test this hypothesis...
  20. Bitarafan F, Garshasbi M. Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease. Iran J Kidney Dis. 2018;12:350-358 pubmed
    ..variety of mutations are spread throughout the PKHD1 gene, which encodes a 4074-bp amino acid protein, namely fibrocystin/polyductin, and is responsible for all features of autosomal recessive polycystic kidney disease (ARPKD)...
  21. Bergmann C, Frank V, Küpper F, Schmidt C, Senderek J, Zerres K. Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease. J Hum Genet. 2006;51:788-93 pubmed
    ..reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown function...
  22. Yuajit C, Muanprasat C, Gallagher A, Fedeles S, Kittayaruksakul S, Homvisasevongsa S, et al. Steviol retards renal cyst growth through reduction of CFTR expression and inhibition of epithelial cell proliferation in a mouse model of polycystic kidney disease. Biochem Pharmacol. 2014;88:412-21 pubmed publisher
    ..examined the effect of steviol on renal cyst growth in an orthologous mouse model of human ADPKD (Pkd1(flox/flox):Pkhd1-Cre)...
  23. Nabhan M, AbdelAziz H, Xu Y, El Sayed R, Santibanez Koref M, Soliman N, et al. Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. Genet Mol Res. 2015;14:3618-24 pubmed publisher
    ..Biallelic mutations in the PKHD1 gene underlie this condition...
  24. Gjorgjieva M, Monteillet L, Calderaro J, Mithieux G, Rajas F. Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. J Inherit Metab Dis. 2018;41:955-963 pubmed publisher
    ..renal cyst formation, frequently caused by the loss of expression of polycystic kidney genes, such as PKD1/2 and PKHD1. Interestingly, these genes are deregulated in K...
  25. Hogan M, Bakeberg J, Gainullin V, Irazabal M, Harmon A, Lieske J, et al. Identification of Biomarkers for PKD1 Using Urinary Exosomes. J Am Soc Nephrol. 2015;26:1661-70 pubmed publisher
    ..02) and 53% (P<0.001), respectively. Transmembrane protein 2 (TMEM2), a protein with homology to fibrocystin, was 2.1-fold higher in individuals with PKD1 mutations (P<0.03)...
  26. Idowu J, Home T, Patel N, Magenheimer B, Tran P, Maser R, et al. Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease. Sci Rep. 2018;8:3340 pubmed publisher
    ..Evaluation of protein expression of Notch signaling components in kidneys of Autosomal Recessive PKD (ARPKD) and Autosomal Dominant PKD (ADPKD) mouse models and of ADPKD patients revealed that Notch pathway members, ..
  27. Bergmann C, Guay Woodford L, Harris P, Horie S, Peters D, Torres V. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4:50 pubmed publisher
    ..Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases...
  28. Janssens P, Weydert C, De Rechter S, Wissing K, Liebau M, Mekahli D. Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children?. Pediatr Nephrol. 2018;33:395-408 pubmed publisher
    ..The two classic forms of PKD are autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD)...
  29. Monis W, Faundez V, Pazour G. BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia. J Cell Biol. 2017;216:2131-2150 pubmed publisher
    ..potentially important for ciliary membrane targeting and determined how this affects the ciliary trafficking of fibrocystin, polycystin-2, and smoothened...
  30. Mavlikeev M, Titova A, Saitburkhanova R, Abyzova M, Sayfutdinov I, Gizzatullina N, et al. Caroli syndrome: a clinical case with detailed histopathological analysis. Clin J Gastroenterol. 2019;12:106-111 pubmed publisher
    Herein we present a clinical case of the Caroli syndrome caused by the compound heterozygous mutation in the PKHD1 gene...
  31. Chen H, Li H, Wu J, Wu S, Chen H, Yang Y, et al. Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges. J Pediatr. 2019;205:153-159.e6 pubmed publisher
    ..5%. Disease-causing mutations, including ATP8B1, ABCB11, ABCB4, ABCC2, TJP2, NR1H4 (FXR), JAG1, AKR1D1, CYP7B1, PKHD1, ATP7B, and SLC25A13, were identified...
  32. Gunay Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet. 2009;151C:296-306 pubmed publisher
    ..discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs ..
  33. Shoieb A, Shirai N. Polycystic kidney disease in Sprague-Dawley rats. Exp Toxicol Pathol. 2015;67:361-4 pubmed publisher
    ..of PKD, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD)...
  34. Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, et al. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. J Hum Genet. 2016;61:811-21 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe genetic disorder arising in the perinatal period, although a late-onset presentation of the disease has been described...
  35. Aboudehen K, Noureddine L, Cobo Stark P, Avdulov S, Farahani S, Gearhart M, et al. Hepatocyte Nuclear Factor-1β Regulates Urinary Concentration and Response to Hypertonicity. J Am Soc Nephrol. 2017;28:2887-2900 pubmed publisher
    ..Here, we used Pkhd1/Cre mice to delete HNF-1β specifically in renal collecting ducts (CDs)...
  36. Verbeeck S, Mekhali D, Cassiman D, Maleux G, Witters P. Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease. Dig Liver Dis. 2018;50:707-712 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis (CHF) causes portal hypertension and its complications...
  37. Ferrè S, Igarashi P. New insights into the role of HNF-1β in kidney (patho)physiology. Pediatr Nephrol. 2018;: pubmed publisher
    ..in elongating tubules leads to cyst formation due to downregulation of cystic disease genes, including Umod, Pkhd1, and Pkd2...
  38. Gunay Aygun M, Parisi M, Doherty D, Tuchman M, Tsilou E, Kleiner D, et al. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. J Pediatr. 2009;155:386-92.e1 pubmed publisher
    ..with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS)...
  39. Hartung E, Guay Woodford L. Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 2014;134:e833-45 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of chronic kidney disease in children...
  40. Drögemüller M, Jagannathan V, Welle M, Graubner C, Straub R, Gerber V, et al. Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. PLoS ONE. 2014;9:e110125 pubmed publisher
    ..in this gene were identified in human patients with autosomal recessive polycystic kidney and hepatic disease (ARPKD) as well as several mouse and rat mutants...
  41. Hackl Á, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, et al. Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr Nephrol. 2017;32:791-800 pubmed publisher
    ..prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD)...
  42. Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, et al. Rationale, design and objectives of ARegPKD, a European ARPKD registry study. BMC Nephrol. 2015;16:22 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently severe disorder that is typically characterized by cystic kidneys and congenital hepatic fibrosis but displays pronounced phenotypic heterogeneity...
  43. Beaudry J, Cordi S, Demarez C, Lepreux S, Pierreux C, Lemaigre F. Proliferation-Independent Initiation of Biliary Cysts in Polycystic Liver Diseases. PLoS ONE. 2015;10:e0132295 pubmed publisher
    ..in Cpk mouse embryos and in livers from human fetuses affected by Autosomal Recessive Polycystic Kidney Disease (ARPKD), at early stages of cyst formation...
  44. Erger F, Brüchle N, Gembruch U, Zerres K. Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch Gynecol Obstet. 2017;295:897-906 pubmed publisher
    ..the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD...
  45. Raman A, Reif G, Dai Y, Khanna A, Li X, Astleford L, et al. Integrin-Linked Kinase Signaling Promotes Cyst Growth and Fibrosis in Polycystic Kidney Disease. J Am Soc Nephrol. 2017;28:2708-2719 pubmed publisher
    ..i>in vitro Homozygous deletion of ILK in renal collecting ducts (CD) of Ilkfl/fl ;Pkhd1-Cre mice caused tubule dilations, apoptosis, fibrosis, and organ failure by 10 weeks of age...
  46. Lu H, Galeano M, Ott E, Kaeslin G, Kausalya P, Kramer C, et al. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017;49:1025-1034 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction...
  47. Gunay Aygun M, Font Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica Worms K, Choyke P, et al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013;144:112-121.e2 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic fibrosis and progressive cystic degeneration of kidneys...
  48. Le Corre S, Viau A, Burtin M, El Karoui K, Cnops Y, Terryn S, et al. Cystic gene dosage influences kidney lesions after nephron reduction. Nephron. 2015;129:42-51 pubmed publisher
    ..In contrast, the apico-basal polarity and cilia did not seem to be affected. Interestingly, polycystin 1 and fibrocystin were markedly increased and polycystin 2 was decreased in cells lining the dilated tubules, whereas the ..
  49. Hajarnis S, Patel V, Aboudehen K, Attanasio M, Cobo Stark P, Pontoglio M, et al. Transcription Factor Hepatocyte Nuclear Factor-1β (HNF-1β) Regulates MicroRNA-200 Expression through a Long Noncoding RNA. J Biol Chem. 2015;290:24793-805 pubmed publisher
    ..previous studies have shown that HNF-1β regulates the transcription of cystic disease genes, including Pkd2 and Pkhd1. Here, we combined chromatin immunoprecipitation and next-generation sequencing (ChIP-Seq) with microarray ..
  50. Hiesberger T, Shao X, Gourley E, Reimann A, Pontoglio M, Igarashi P. Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. J Biol Chem. 2005;280:10578-86 pubmed
    ..studies showed that HNF-1beta regulates the expression of the autosomal recessive polycystic kidney disease (ARPKD) gene, Pkhd1...
  51. Lin S, Shang T, Wang M, Lin J, Ye X, Zeng D, et al. Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report. World J Clin Cases. 2018;6:296-300 pubmed publisher
    ..and subjected to polymerase chain reaction amplification of the polycystic kidney and hepatic disease 1 (PKHD1) gene. Two different mutation loci were identified. Heterozygous mutations located in exon 32 (c.4280delG, p...
  52. Vivante A, Hwang D, Kohl S, Chen J, Shril S, Schulz J, et al. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol. 2017;28:69-75 pubmed publisher
    ..recessive mutations in nine known disease-causing genes: ZBTB24, WFS1, HPSE2, ATRX, ASPH, AGXT, AQP2, CTNS, and PKHD1 Notably, when mutated, these genes cause multiorgan syndromes that may include CAKUT as a feature (syndromic CAKUT)..
  53. Hamo S, Bacchetta J, Bertholet Thomas A, Ranchin B, Cochat P, Michel Calemard L. [PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling]. Nephrol Ther. 2018;14:474-477 pubmed publisher
    ARPKD is a recessive rare disease due to PKHD1 mutation. The main objective of the study was to characterize the phenotypic variability according to the different types of PKHD1 mutations...
  54. Cooksey R, Woodward M. Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease. J Pediatr Urol. 2015;11:366-7 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) occurs in 1 in 20 000 live births. A mortality rate of 30-40% is reported, generally relating to pulmonary hypoplasia, and 60% require renal replacement therapy (RRT) by 10 years...
  55. Hwang V, Zhou X, Chen X, Trott J, Abu Aboud O, Shim K, et al. Anticystogenic activity of a small molecule PAK4 inhibitor may be a novel treatment for autosomal dominant polycystic kidney disease. Kidney Int. 2017;92:922-933 pubmed publisher
    ..in an ex vivo model of cyclic AMP-induced cystogenesis as well as in the early stage Pkd1flox/flox:Pkhd1-Cre mouse model, the latter showing confirmation of specific anti-proliferative, apoptotic, and on-target effects...
  56. Gutiérrez Gil B, Esteban Blanco C, Suarez Vega A, Arranz J. Detection of quantitative trait loci and putative causal variants affecting somatic cell score in dairy sheep by using a 50K SNP chip and whole-genome sequencing. J Dairy Sci. 2018;101:9072-9088 pubmed publisher
    ..QTL segregation pattern that were within candidate immune-related genes, 13 variants distributed across 7 genes [PKHD1, NOTCH4, AGER, ENSOARG00000009395 (HLA-C, Homo sapiens), ENSOARG00000015002 (HLA-B, H...
  57. Audrézet M, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, et al. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016;27:722-9 pubmed publisher
    ..homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations...
  58. Tong Y, Liu B, Fu C, Zheng H, Gu J, Liu H, et al. Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. J Huazhong Univ Sci Technolog Med Sci. 2016;36:758-766 pubmed publisher
    b>PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD)...
  59. Ebner K, Dafinger C, Ortiz Bruechle N, Koerber F, Schermer B, Benzing T, et al. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr Nephrol. 2017;32:1269-1273 pubmed publisher
    ..and Hepatic Disease 1 (PKHD1), which encodes a large transmembrane protein of poorly understood function called fibrocystin. Based on current knowledge of genotype-phenotype correlations in ARPKD, two truncating mutations are ..
  60. Riechardt S, Koch M, Oh J, Fisch M. [Early bilateral nephrectomy in neonatal autosomal recessive polycystic kidney disease : Improved prognosis or unnecessary effort?]. Urologe A. 2017;56:882-886 pubmed publisher
    Neonatal autosomal recessive polycystic kidney disease (ARPKD) is associated with giant kidneys, lung hypoplasia, pulmonal hypertension, and end-stage renal failure...
  61. Huang W, Rainbow D, Wu Y, Adams D, Shivakumar P, Kottyan L, et al. A Novel Pkhd1 Mutation Interacts with the Nonobese Diabetic Genetic Background To Cause Autoimmune Cholangitis. J Immunol. 2018;200:147-162 pubmed publisher
    ..is caused by a chromosome 1 region that includes a novel mutation in polycystic kidney and hepatic disease 1 (Pkhd1)...
  62. Park E, Lee J, Ahn Y, Kang H, Ha I, Lee J, et al. Hepatorenal fibrocystic diseases in children. Pediatr Nephrol. 2016;31:113-9 pubmed publisher
    ..in 22 patients and 14 patients diagnosed clinically as having autosomal recessive polycystic kidney disease (ARPKD). In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44...
  63. Pavlov T, Ilatovskaya D, Palygin O, Levchenko V, Pochynyuk O, Staruschenko A. Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium. J Vis Exp. 2015;: pubmed publisher
    ..PCK rats, a genetic model of autosomal recessive polycystic kidney disease (ARPKD), were used here for ex vivo analysis of ion channels and calcium flux...
  64. Miyazaki J, Ito M, Nishizawa H, Kato T, Minami Y, Inagaki H, et al. Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease. BMC Med Genet. 2015;16:98 pubmed publisher
    ..we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD)...
  65. Ito Y, Sekine A, Takada D, Yabuuchi J, Kogure Y, Ueno T, et al. Renal histology and MRI findings in a 37-year-old Japanese patient with autosomal recessive polycystic kidney disease?. Clin Nephrol. 2017;88:292-297 pubmed publisher
    ..Accordingly, autosomal recessive polycystic kidney disease (-ARPKD) due to compound heterozygous <italic>PKHD1</italic> mutation was diagnosed...
  66. Israeli S, Amsler K, Zheleznova N, Wilson P. Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cells. Am J Physiol Cell Physiol. 2010;298:C831-46 pubmed publisher
    ..recessive polycystic kidney disease (ARPKD) is associated with loss of function of PKHD1-encoded protein fibrocystin-1 and is characterized by cystic dilation of renal collecting tubules (CT) in utero and loss of renal function ..
  67. Locatelli L, Cadamuro M, Spirlì C, Fiorotto R, Lecchi S, Morell C, et al. Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis. Hepatology. 2016;63:965-82 pubmed publisher
    ..CHF is caused by mutations in PKHD1, a gene encoding for fibrocystin, a ciliary protein expressed in cholangiocytes...
  68. Dell K, Matheson M, Hartung E, Warady B, Furth S. Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease. J Pediatr. 2016;171:196-201.e1 pubmed publisher
    ..GFR) decline, hypertension (HTN), and proteinuria in subjects with autosomal recessive polycystic kidney disease (ARPKD) and compare with 2 congenital kidney disease control groups in the Chronic Kidney Disease in Children cohort...
  69. Murabito J, Rosenberg C, Finger D, Kreger B, Levy D, Splansky G, et al. A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. BMC Med Genet. 2007;8 Suppl 1:S6 pubmed
    ..These findings can serve as a resource for replication in other populations to identify novel biologic pathways contributing to cancer susceptibility. ..
  70. Duan J, Huang H, Lv X, Wang H, Tang Z, Sun H, et al. PKHD1 post-transcriptionally modulated by miR-365-1 inhibits cell-cell adhesion. Cell Biochem Funct. 2012;30:382-9 pubmed publisher
    ..Mutations of PKHD1 (polycystic kidney and hepatic disease gene 1) gene were identified to be responsible for ARPKD...
  71. Rawal R, Joshi M, Bhargava P, Shaikh I, Pandit A, Patel R, et al. Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma. 3 Biotech. 2015;5:685-696 pubmed publisher
    ..seven unique cancer driver genes (KIT, ATM, RNF213, GATA2, DST, RET, CYP2C19) in WoH, while WH showed five (IL7R, PKHD1, MLL3, PTPRD, MAPK8) and 10 genes (SETD2, ATR, CDKN2A, NCOA4, TP53, SYNE1, KAT6B, THBS1, PTPRT, and FGFR3) were ..
  72. Kelly K, Zhang J, Han L, Kamocka M, Miller C, Gattone V, et al. Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. PLoS ONE. 2015;10:e0131677 pubmed publisher
    ..Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells ..
  73. Edrees B, Athar M, Al Allaf F, Taher M, Khan W, Bouazzaoui A, et al. Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease. Gene. 2016;591:214-226 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney...
  74. Mekahli D, van Stralen K, Bonthuis M, Jager K, Balat A, Benetti E, et al. Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-. Am J Kidney Dis. 2016;68:782-788 pubmed publisher
    ..in young people with kidney failure and liver fibrosis due to autosomal recessive polycystic kidney disease (ARPKD) can be challenging...
  75. Besse W, Dong K, Choi J, Punia S, Fedeles S, Choi M, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017;127:1772-1785 pubmed publisher
    ..on a genome-wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1, indicating that adult PKHD1 carriers can present with clinical PCLD...
  76. Carignano H, Roldan D, Beribe M, Raschia M, Amadio A, Nani J, et al. Genome-wide scan for commons SNPs affecting bovine leukemia virus infection level in dairy cattle. BMC Genomics. 2018;19:142 pubmed publisher
    ..BOLA-A, LTA, LTB, TNF, IER3, GRP111, CRISP1), several genes involved in cell cytoskeletal reorganization (CD2AP, PKHD1, FLOT1, TUBB5) and modelling of the extracellular matrix (TRAM2, TNXB)...
  77. Zvereff V, Yao S, Ramsey J, Mikhail F, Vijzelaar R, Messiaen L. Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. Genet Test Mol Biomarkers. 2010;14:505-10 pubmed publisher
    Mutations in the PKHD1 gene are responsible for autosomal recessive polycystic kidney disease (ARPKD)...
  78. Costa R, Seuanez H. Investigation of major genetic alterations in neuroblastoma. Mol Biol Rep. 2018;45:287-295 pubmed publisher
    ..However, the observed 6p imbalances made PKHD1 and DCDC2 inadequate for control loci. This must be considered when designing commercial MLPA kits for NB...
  79. Lee C, O Connor A, Yang C, Tate J, Schoeb T, Flint J, et al. Magnetic resonance microscopy of renal and biliary abnormalities in excised tissues from a mouse model of autosomal recessive polycystic kidney disease. Physiol Rep. 2015;3: pubmed publisher
    ..The cpk mouse model of autosomal recessive PKD (ARPKD) has been extensively characterized using standard histopathological techniques after euthanasia...
  80. Wei F, Cai C, Yu P, Lv J, Ling C, Shi W, et al. Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients. Genet Mol Res. 2015;14:15471-81 pubmed publisher
    ..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, ..
  81. Nieto J, Yamin M, Goldberg I, Narayan P. An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. PLoS ONE. 2016;11:e0163063 pubmed publisher
    Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts...
  82. Hu Q, Wu Y, Tang J, Zheng W, Wang Q, Nahirney D, et al. Expression of polycystins and fibrocystin on primary cilia of lung cells. Biochem Cell Biol. 2014;92:547-54 pubmed publisher
    Mutations in polycystin-1, polycystin-2, or fibrocystin account for autosomal dominant or recessive polycystic kidney disease...
  83. Grenda R, Kalicinski P. Combined and sequential liver-kidney transplantation in children. Pediatr Nephrol. 2018;33:2227-2237 pubmed publisher
    ..common indications include primary hyperoxaluria type 1 (PH1) and autosomal recessive polycystic kidney disease (ARPKD), followed by liver diseases associated with occasional kidney failure...
  84. Heard Costa N, Zillikens M, Monda K, Johansson A, Harris T, Fu M, et al. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet. 2009;5:e1000539 pubmed publisher
    ..Our findings establish that common variants in NRXN3 are associated with WC, BMI, and obesity. ..
  85. Liu S, Ding J, Wang F, Zhang Y, Ye J. Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. World J Pediatr. 2014;10:271-4 pubmed publisher
    ..b>PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were ..
  86. Courcet J, Minello A, Prieur F, Morisse L, Phelip J, Beurdeley A, et al. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. Am J Med Genet A. 2015;167A:3046-53 pubmed publisher
    ..complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability...
  87. Mücher G, Becker J, Knapp M, Buttner R, Moser M, Rudnik Schoneborn S, et al. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics. 1998;48:40-5 pubmed
    A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1) for the autosomal recessive polycystic kidney disease (ARPKD), using a ..
  88. Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004;23:453-63 pubmed
    ..continuous open reading frame is predicted to yield a 4,074-aa (447-kDa) multidomain integral membrane protein (fibrocystin/polyductin) of unknown function...
  89. Bergmann C, Kupper F, Schmitt C, Vester U, Neuhaus T, Senderek J, et al. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). J Med Genet. 2005;42:e63 pubmed
    Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA...
  90. Nagano J, Kitamura K, Hujer K, Ward C, Bram R, Hopfer U, et al. Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling. Biochem Biophys Res Commun. 2005;338:880-9 pubmed
    The predicted structure of the autosomal recessive polycystic kidney disease protein, fibrocystin, suggests that it may function as a receptor, but its function remains unknown...
  91. Hogan M, Manganelli L, Woollard J, Masyuk A, Masyuk T, Tammachote R, et al. Characterization of PKD protein-positive exosome-like vesicles. J Am Soc Nephrol. 2009;20:278-88 pubmed publisher
    ..with autosomal dominant and autosomal recessive polycystic kidney disease (polycystin-1, polycystin-2, and fibrocystin) localize to various subcellular compartments, but their functional site is thought to be on primary cilia...
  92. Dorn L, Menezes L, Mikuz G, Otto H, Onuchic L, Sergi C. Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas. J Cell Mol Med. 2009;13:1279-90 pubmed publisher
    ..polycystic kidney disease (ARPKD) gene, encodes a single-pass, integral membrane protein named polyductin or fibrocystin. A fusion protein comprising its intracellular C-terminus, FP2, was previously used to raise a polyclonal ..