| 1 | ABHD5, DGAT1
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| Positive regulation of prostate cancer cell growth by lipid droplet forming and processing enzymes DGAT1 and ABHD5.
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| Mitra R, Le TT, Gorjala P, Goodman OB Jr.
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| BMC Cancer 17(1):631. doi: 10.1186/s12885-017-3589-6.
2017
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| 2 | ABHD5, FDFT1, PGRMC1
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| Lipid synthesis and processing proteins ABHD5, PGRMC1 and squalene synthase can serve as novel immunohistochemical markers for sebaceous neoplasms and differentiate sebaceous carcinoma from sebaceoma and basal cell carcinoma with clear cell features.
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| Chen WS, Chen PL, Li J, Lind AC, Lu D.
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| J Cutan Pathol 40(7):631-8. doi: 10.1111/cup.12147. Epub 2013 Apr 5.
2013
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| 3 | ABHD5, PLIN1
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| Perilipin controls lipolysis by regulating the interactions of AB-hydrolase containing 5 (Abhd5) and adipose triglyceride lipase (Atgl).
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| Granneman JG, Moore HP, Krishnamoorthy R, Rathod M.
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| J Biol Chem 284(50):34538-44. Epub 2009 Oct 22.
2009
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| 4 | ABHD5, PLIN5
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| Functional interactions between Mldp (LSDP5) and Abhd5 in the control of intracellular lipid accumulation.
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| Granneman JG, Moore HP, Mottillo EP, Zhu Z.
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| J Biol Chem 284(5):3049-57. doi: 10.1074/jbc.M808251200. Epub 2008 Dec 8.
2009
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| 5 | ABHD5, NCIE2
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| CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
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| Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R.
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| J Biol Chem 283(36):24525-33. Epub 2008 Jul 7.
2008
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| 6 | ABHD5, NCIE2
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| Clinical and genetic characterization of Chanarin-Dorfman syndrome.
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| 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.
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| Biochem Biophys Res Commun 369(4):1125-8. Epub 2008 Mar 11. 2008
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| 7 | ABHD5, NCIE2
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| Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
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| Badeloe S, van Geel M, Nagtzaam I, Rubio-Gozalbo ME, Oei RL, Steijlen PM, van Steensel MA.
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| 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
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| 8 | NCIE2, ABHD5
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| Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
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| Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF.
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| Arch Dermatol 141(6):798-800. No abstract available. 2005
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| 9 | NCIE2, ABHD5
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| Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.
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| Srinivasan R, Hadzic N, Fischer J, Knisely AS.
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| J Pediatr 144(5):662-5. 2004
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| 10 | ABHD5, NCIE2
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| Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
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| 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.
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| Am J Hum Genet 69(5):1002-12. Epub 2001 Oct 02. 2001
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| 11 | LMLI3, NCIE2, ABHD5, NNCI
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| Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.
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| Virolainen E, Wessman M, Hovatta I, Niemi KM, Ignatius J, Kere J, Peltonen L, Palotie A.
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| Am J Hum Genet 66(3):1132-7. 2000
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| 12 | ABHD5, LMLI3, NCIE2, NNCI
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| Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.
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| Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozguc M, Weissenbach J, Prud'homme JF.
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| Am J Hum Genet 66(3):904-13. 2000
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