| 1 | ATMIN, PKHD1
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| Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
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| Richards T, Modarage K, Dean C, McCarthy-Boxer A, Hilton H, Esapa C, Norman J, Wilson P, Goggolidou P.
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| Biochim Biophys Acta Mol Basis Dis. Feb 1;1865(2):378-390. doi: 10.1016/j.bbadis.2018.11.003. Epub 2018 Nov 7 2019
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| 2 | PKHD1, RHOA, SMURF1, SMURF2
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| NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology
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| Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG
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| Sci Rep. Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4. 2017
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| 3 | PKHD1
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| A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism
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| Outeda P, Menezes L, Hartung EA, Bridges S, Zhou F, Zhu X, Xu H, Huang Q, Yao Q, Qian F, Germino GG, Watnick T.
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| Kidney Int. Nov;92(5):1130-1144. doi: 10.1016/j.kint.2017.04.027. Epub 2017 Jul 18. 2017
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| 4 | ARPKD, PKHD1
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| Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
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| Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA, Abduljaleel Z.
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| Gene Oct 10;591(1):214-226. doi: 10.1016/j.gene.2016.07.021. Epub 2016 Jul 9 2016
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| 5 | PKHD1
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| Tissue-specific regulation of the mouse Pkhd1 (ARPKD) gene promoter
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| Williams SS, Cobo-Stark P, Hajarnis S, Aboudehen K, Shao X, Richardson JA, Patel V, Igarashi P
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| Am J Physiol Renal Physiol. Aug 1;307(3):F356-68. doi: 10.1152/ajprenal.00422.2013. Epub 2014 Jun 4. 2014
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| 6 | PKHD1
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| Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways.
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| Sun L, Wang S, Hu C, Zhang X.
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| Exp Cell Res 317(7):932-40. Epub 2011 Feb 12.
2011
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| 7 | PCLD1, PCLD2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
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| A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
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| Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S.
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| Nat Genet 43(7):639-47. doi: 10.1038/ng.860.
2011
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| 8 | ARPKD, PKHD1
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| PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
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| Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.
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| Mol Genet Metab 99(2):160-73. Epub 2009 Oct 20.PMID: 19914852 2010
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| 9 | ARPKD, PKHD1
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| Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity.
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| Zhang J, Wu M, Wang S, Shah JV, Wilson PD, Zhou J.
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| Hum Mol Genet 19(17):3306-19. Epub 2010 Jun 16.PMID: 20554582 2010
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| 10 | PKHD1
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| Inhibition of PKHD1 may cause S-phase entry via mTOR signaling pathway
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| Zheng R, Wang L, Fan J, Zhou Q.
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| Cell Biol Int. Sep;33(9):926-33. doi: 10.1016/j.cellbi.2009.06.012. Epub 2009 Jun 12 2009
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| 11 | ARPKD, PKD1, PKD2, PKHD1
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| Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin.
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| Kim I, Li C, Liang D, Chen XZ, Coffy RJ, Ma J, Zhao P, Wu G.
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| J Biol Chem 283(46):31559-66. Epub 2008 Sep 9.
2008
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| 12 | PKHD1
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| Polyductin undergoes notch-like processing and regulated release from primary cilia.
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| Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG.
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| Hum Mol Genet 16(8):942-56. 2007
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| 13 | PKD, PKD1, PKD2, PKHD1
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| Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
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| Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG.
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| Hum Mol Genet 16(16):1940-50. Epub 2007 Jun 16. 2007
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| 14 | PKHD1, ARPKD
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| Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
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| Bergmann C, Frank V, KŸpper F, Schmidt C, Senderek J, Zerres K.
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| J Hum Genet 51(9):788-93. Epub 2006 Aug 3. 2006
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| 15 | KIF3B, PKD2, PKHD1
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| Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.
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| Wu Y, Dai XQ, Li Q, Chen CX, Mai W, Hussain Z, Long W, Montalbetti N, Li G, Glynne R, Wang S, Cantiello HF, Wu G, Chen XZ.
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| Hum Mol Genet 15(22):3280-92. Epub 2006 Sep 28.
2006
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| 16 | ELOVL5, FBXO9, GCM1, GSTA3, GSTA4, ICK, IL17F, MCM3, PAQR8, PKHD1, TFAP2B, TMEM14A, WTAP, ZNF451
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| Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.
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| Suzuki T, Delgado-Escueta AV, Alonso ME, Morita R, Okamura N, Sugimoto Y, Bai D, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Yamakawa K.
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| Neurosci Lett 405(1-2):126-31. Epub 2006 Jul 28. 2006
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| 17 | PKHD1, ARPKD
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| Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
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| Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM.
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| J Med Genet 42(4):336-49. No abstract available. 2005
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| 18 | PKHD1, ARPKD
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| Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
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| Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ.
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| Hum Genet 118(2):185-206. Epub 2005 Nov 15. 2005
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| 19 | PKHD1, HNF1B
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| Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis.
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| Hiesberger T, Shao X, Gourley E, Reimann A, Pontoglio M, Igarashi P.
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| J Biol Chem 280(11):10578-86. Epub 2005 Jan 12. 2005
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| 20 | PKHD1, ARPKD
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| Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
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| Bergmann C, Senderek J, Windelen E, Kupper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schoneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Buttner R, Zerres K; APN (Arbeitsgemeinschaft fur Padiatrische Nephrologie).
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| Kidney Int 67(3):829-48. 2005
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| 21 | PKHD1, ARPKD
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| PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
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| Bergmann C, Senderek J, Schneider F, Dornia C, Kupper F, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Moser M, Buttner R, Zerres K.
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| Hum Mutat 23(5):487-95. 2004
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| 22 | PKHD1
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| Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.
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| Menezes LF, Cai Y, Nagasawa Y, Silva AM, Watkins ML, Da Silva AM, Somlo S, Guay-Woodford LM, Germino GG, Onuchic LF.
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| Kidney Int 66(4):1345-55. 2004
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| 23 | PKHD1, ARPKD
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| The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.
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| Wang S, Luo Y, Wilson PD, Witman GB, Zhou J.
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| J Am Soc Nephrol 15(3):592-602. 2004
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| 24 | PKHD1
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| Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
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| Ward CJ, Yuan D, Masyuk TV, Wang X, Punyashthiti R, Whelan S, Bacallao R, Torra R, LaRusso NF, Torres VE, Harris PC.
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| Hum Mol Genet 12(20):2703-10. Epub 2003 Aug 12. 2003
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| 25 | ARPKD, GCLC, PKHD1
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| 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.
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| Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG.
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| Am J Hum Genet 70(5):1305-17. 2002
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| 26 | PKHD1
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| A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease.
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| Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, Liang D, Tham K, Xu X, Chen XZ, Pei Y, Zhao ZJ, Wu G.
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| Genomics 80(1):96-104. 2002
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| 27 | PKHD1
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| Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.
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| Zerres K, et al.
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| Nat Genet 7 : 429-432. 1994
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