| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
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| Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
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| Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME.
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| Proc Natl Acad Sci U S A 104(22):9416-21. Epub 2007 May 21. 2007
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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | ARPKD, BBS2, BBS4, BBS6, JATD1, MKS3, NPHP4
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| Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.
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| Johnson CA, Gissen P, Sergi C.
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| J Med Genet 40(5):311-9. Review. 2003
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| 13 | 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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| 14 | ARPKD, IL17F, ARPKD
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| The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
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| Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC.
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| Nat Genet 30(3):259-69. 2002
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| 15 | ARPKD
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| A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.
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| Park JH, et al.
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| Genomics 57(2):249-55. 1999
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| 16 | ARPKD, CSNK2B, GSTA1, GSTAP1, MUT, PRPH2
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| Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
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| Mucher G, Becker J, Knapp M, Buttner R, Moser M, Rudnik-Schoneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K.
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| Genomics 48(1):40-5. 1998
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| 17 | ARPKD
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| An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.
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| Lens XM, Onuchic LF, Wu G, Hayashi T, Daoust M, Mochizuki T, Santarina LB, Stockwin JM, Mucher G, Becker J, Sweeny WE Jr, Avner ED, Guay-Woodford L, Zerres K, Somlo S, Germino GG.
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| Genomics 41(3):463-6. 1997
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| 18 | ARPKD
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| Localization of the gene for autosomal recessive polycystic kidney disease to an 1 cM genetic interval between new flanking markers in 6p21.1-p12 . Exclusion and finemapping of the candidate genes MCM, RDS, CKII-beta, GSTA1. (abstr)
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| Becker J, et al.
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| Am J Hum Genet 61 : A267. 1997
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| 19 | ARPKD
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| The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12 : implications for genetic counseling.
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| Guay-Woodford LM, et al.
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| Am J Hum Genet 56 : 1101-1107. 1995
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| 20 | PKD2, ARPKD
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| Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4.
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| Zerres K, et al.
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| Hum Genet 93 : 697-698. 1994
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| 21 | ARPKD, IFT88
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| Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.
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| Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP.
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| Science 264(5163):1329-33. 1994
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