| 1 | MCHM, PYCR1, PYCR2
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| Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
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| Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH.
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| Am J Hum Genet 96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9.
2015
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| 2 | PYCR1
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| Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid.
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| Struys EA, Jansen EE, Salomons GS.
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| J Inherit Metab Dis 37(3):327-32. doi: 10.1007/s10545-013-9673-4. Epub 2014 Jan 16.
2014
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| 3 | PARK7, PYCR1
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| DJ-1 cooperates with PYCR1 in cell protection against oxidative stress.
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| Yasuda T, Kaji Y, Agatsuma T, Niki T, Arisawa M, Shuto S, Ariga H, Iguchi-Ariga SM.
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| Biochem Biophys Res Commun 436(2):289-94. doi: 10.1016/j.bbrc.2013.05.095. Epub 2013 Jun 4.
2013
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| 4 | ARCL2B, PYCR1
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| Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
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| Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.
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| Mol Genet Metab 110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.
2013
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| 5 | PYCR1, PYCR2, PYCRL
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| Functional specialization in proline biosynthesis of melanoma.
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| De Ingeniis J, Ratnikov B, Richardson AD, Scott DA, Aza-Blanc P, De SK, Kazanov M, Pellecchia M, Ronai Z, Osterman AL, Smith JW.
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| PLoS One 7(9):e45190. Epub 2012 Sep 14.
2012
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| 6 | ARCL2B, PYCR1
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| A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
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| Lin DS, Yeung CY, Liu HL, Ho CS, Shu CH, Chuang CK, Huang YW, Wu TY, Huang ZD, Jian YR, Lin SP.
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| Am J Med Genet A 155A(6):1285-9. doi: 10.1002/ajmg.a.33963. Epub 2011 May 12.
2011
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| 7 | ARCL3B, PYCR1
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| Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
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| Lin DS, Chang JH, Liu HL, Wei CH, Yeung CY, Ho CS, Shu CH, Chiang MF, Chuang CK, Huang YW, Wu TY, Jian YR, Huang ZD, Lin SP.
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| Am J Med Genet A 155A(12):3095-9. doi: 10.1002/ajmg.a.34326. Epub 2011 Nov 3.
2011
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| 8 | ARCL2B, PYCR1
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| Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
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| Kouwenberg D, Gardeitchik T, Wevers RA, Häberle J, Morava E.
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| Am J Med Genet A 155A(9):2331-2; author reply 2333-4. doi: 10.1002/ajmg.a.34154. Epub 2011 Aug 10. No abstract available.
2011
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| 9 | ARCL2B, PYCR1
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| Mutations in PYCR1 cause cutis laxa with progeroid features.
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| Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U.
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| Nat Genet at Genet. 2009 Aug 2. [Epub ahead of print]
2009
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| 10 | ARCL2B, PYCR1
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| Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
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| Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME.
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| Am J Hum Genet 85(1):120-9. Epub 2009 Jul 2.
2009
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| 11 | PYCR1
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| Crystal structure of human pyrroline-5-carboxylate reductase.
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| Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z.
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| J Mol Biol 359(5):1364-77. Epub 2006 May 11.
2006
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| 12 | HDLBP, TUBA1B, LIPF, MUC8, PDLIM3, PGC, PYCR1, RPS8, SLC3A2, STIP1, TUBA1C, UBC
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| Gene cataloging and expression profiling in human gastric cancer cells by expressed sequence tags.
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| Kim NS, Hahn Y, Oh JH, Lee JY, Oh KJ, Kim JM, Park HS, Kim S, Song KS, Rho SM, Yoo HS, Kim YS.
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| Genomics 83(6):1024-45. 2004
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| 13 | PYCR1
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| Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in saccharomyces cerevisiae.
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| Dougherty KM, et al.
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| J Biol Chem 267 : 871-875. 1992
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