| 1 | ABHD5, NCIE2 |
| CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. | |
| Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R. | |
| J Biol Chem 283(36):24525-33. Epub 2008 Jul 7. 2008 | |
| 2 | ABHD5, NCIE2 |
| Clinical and genetic characterization of Chanarin-Dorfman syndrome. | |
| Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. | |
| Biochem Biophys Res Commun 369(4):1125-8. Epub 2008 Mar 11. 2008 | |
| 3 | ABHD5, NCIE2 |
| Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5. | |
| Badeloe S, van Geel M, Nagtzaam I, Rubio-Gozalbo ME, Oei RL, Steijlen PM, van Steensel MA. | |
| Br J Dermatol 158(6):1378-80. Epub 2008 Apr 10. No abstract available. Erratum in: Br J Dermatol. 2008 Aug;159(2):511. PMID: 18410411 2008 | |
| 4 | NCIE2, ABHD5 |
| Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. | |
| Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF. | |
| Arch Dermatol 141(6):798-800. No abstract available. 2005 | |
| 5 | NCIE2, ABHD5 |
| Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. | |
| Srinivasan R, Hadzic N, Fischer J, Knisely AS. | |
| J Pediatr 144(5):662-5. 2004 | |
| 6 | ABHD5, NCIE2 |
| Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. | |
| Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H,Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF,Fischer J. | |
| Am J Hum Genet 69(5):1002-12. Epub 2001 Oct 02. 2001 | |
| 7 | LMLI3, NCIE2, ABHD5, NNCI |
| Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. | |
| Virolainen E, Wessman M, Hovatta I, Niemi KM, Ignatius J, Kere J, Peltonen L, Palotie A. | |
| Am J Hum Genet 66(3):1132-7. 2000 | |
| 8 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3 |
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. | |
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. | |
| Genome Res 10(5):703-13. 2000 | |
| 9 | ABHD5, LMLI3, NCIE2, NNCI |
| Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. | |
| Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozguc M, Weissenbach J, Prud'homme JF. | |
| Am J Hum Genet 66(3):904-13. 2000 | |