[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, AND VARIANTS CDS LYS-7; PRO-130 AND LYS-260.
DOI=10.1086/324121; PubMed=11590543 [NCBI, ExPASy, EBI, Israel, Japan]
Lefevre C.,
Jobard F.,
Caux F.,
Bouadjar B.,
Karaduman A.,
Heilig R.,
Lakhdar H.,
Wollenberg A.,
Verret J.-L.,
Weissenbach J.,
Oezguec M.,
Lathrop M.,
Prud'homme J.-F.,
Fischer J.;
"Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.";
Am. J. Hum. Genet. 69:1002-1012(2001).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.10.5.703; PubMed=10810093 [NCBI, ExPASy, EBI, Israel, Japan]
Lai C.-H.,
Chou C.-Y.,
Ch'ang L.-Y.,
Liu C.-S.,
Lin W.-C.;
"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.";
Genome Res. 10:703-713(2000).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Substantia nigra;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04728; PubMed=16641997 [NCBI, ExPASy, EBI, Israel, Japan]
Muzny D.M.,
Scherer S.E.,
Kaul R.,
Wang J.,
Yu J.,
Sudbrak R.,
Buhay C.J.,
Chen R.,
Cree A.,
Ding Y.,
Dugan-Rocha S.,
Gill R.,
Gunaratne P.,
Harris R.A.,
Hawes A.C.,
Hernandez J.,
Hodgson A.V.,
Hume J.,
Jackson A., ![]()
Khan Z.M.,
Kovar-Smith C.,
Lewis L.R.,
Lozado R.J.,
Metzker M.L.,
Milosavljevic A.,
Miner G.R.,
Morgan M.B.,
Nazareth L.V.,
Scott G.,
Sodergren E.,
Song X.-Z.,
Steffen D.,
Wei S.,
Wheeler D.A.,
Wright M.W.,
Worley K.C.,
Yuan Y.,
Zhang Z.,
Adams C.Q.,
Ansari-Lari M.A.,
Ayele M.,
Brown M.J.,
Chen G.,
Chen Z.,
Clendenning J.,
Clerc-Blankenburg K.P.,
Chen R.,
Chen Z.,
Davis C.,
Delgado O.,
Dinh H.H.,
Dong W.,
Draper H.,
Ernst S.,
Fu G.,
Gonzalez-Garay M.L.,
Garcia D.K.,
Gillett W.,
Gu J.,
Hao B.,
Haugen E.,
Havlak P.,
He X.,
Hennig S.,
Hu S.,
Huang W.,
Jackson L.R.,
Jacob L.S.,
Kelly S.H.,
Kube M.,
Levy R.,
Li Z.,
Liu B.,
Liu J.,
Liu W.,
Lu J.,
Maheshwari M.,
Nguyen B.-V.,
Okwuonu G.O.,
Palmeiri A.,
Pasternak S.,
Perez L.M.,
Phelps K.A.,
Plopper F.J.,
Qiang B.,
Raymond C.,
Rodriguez R.,
Saenphimmachak C.,
Santibanez J.,
Shen H.,
Shen Y.,
Subramanian S.,
Tabor P.E.,
Verduzco D.,
Waldron L.,
Wang J.,
Wang J.,
Wang Q.,
Williams G.A.,
Wong G.K.-S.,
Yao Z.,
Zhang J.,
Zhang X.,
Zhao G.,
Zhou J.,
Zhou Y.,
Nelson D.,
Lehrach H.,
Reinhardt R.,
Naylor S.L.,
Yang H.,
Olson M.,
Weinstock G.,
Gibbs R.A.;
"The DNA sequence, annotation and analysis of human chromosome 3.";
Nature 440:1194-1198(2006).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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FUNCTION, AND CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260.
DOI=10.1016/j.cmet.2006.03.005; PubMed=16679289 [NCBI, ExPASy, EBI, Israel, Japan]
Lass A.,
Zimmermann R.,
Haemmerle G.,
Riederer M.,
Schoiswohl G.,
Schweiger M.,
Kienesberger P.,
Strauss J.G.,
Gorkiewicz G.,
Zechner R.;
"Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.";
Cell Metab. 3:309-319(2006).
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[8]
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FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND INDUCTION.
DOI=10.2353/ajpath.2008.080005; PubMed=18832586 [NCBI, ExPASy, EBI, Israel, Japan]
Akiyama M.,
Sakai K.,
Takayama C.,
Yanagi T.,
Yamanaka Y.,
McMillan J.R.,
Shimizu H.;
"CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.";
Am. J. Pathol. 173:1349-1360(2008).
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[9]
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FUNCTION, CATALYTIC ACTIVITY, AND CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260.
DOI=10.1074/jbc.M801783200; PubMed=18606822 [NCBI, ExPASy, EBI, Israel, Japan]
Ghosh A.K.,
Ramakrishnan G.,
Chandramohan C.,
Rajasekharan R.;
"CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.";
J. Biol. Chem. 283:24525-24533(2008).
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[10]
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VARIANT ARG-82.
DOI=10.1001/archderm.141.6.798; PubMed=15967942 [NCBI, ExPASy, EBI, Israel, Japan]
Schleinitz N.,
Fischer J.,
Sanchez A.,
Veit V.,
Harle J.-R.,
Pelissier J.-F.;
"Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.";
Arch. Dermatol. 141:798-800(2005).
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[11]
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VARIANT CDS GLY-115.
DOI=10.1038/sj.jid.5700860; PubMed=17495960 [NCBI, ExPASy, EBI, Israel, Japan]
Ben Selma Z.,
Yilmaz S.,
Schischmanoff P.O.,
Blom A.,
Ozogul C.,
Laroche L.,
Caux F.;
"A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.";
J. Invest. Dermatol. 127:2273-2276(2007).
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