[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH ATF4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INVOLVEMENT IN JBTS5 AND SLSN6.
DOI=10.1038/ng1786; PubMed=16682973 [NCBI, ExPASy, EBI, Israel, Japan]
Sayer J.A.,
Otto E.A.,
O'toole J.F.,
Nurnberg G.,
Kennedy M.A.,
Becker C.,
Hennies H.C.,
Helou J.,
Attanasio M.,
Fausett B.V.,
Utsch B.,
Khanna H.,
Liu Y.,
Drummond I.,
Kawakami I.,
Kusakabe T.,
Tsuda M.,
Ma L.,
Lee H.,
Larson R.G.,
Allen S.J.,
Wilkinson C.J.,
Nigg E.A.,
Shou C.,
Lillo C.,
Williams D.S.,
Hoppe B.,
Kemper M.J.,
Neuhaus T.,
Parisi M.A.,
Glass I.A.,
Petry M.,
Kispert A.,
Gloy J.,
Ganner A.,
Walz G.,
Zhu X.,
Goldman D.,
Nurnberg P.,
Swaroop A.,
Leroux M.R.,
Hildebrandt F.;
"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.";
Nat. Genet. 38:674-681(2006).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
DOI=10.1093/dnares/4.2.141; PubMed=9205841 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T.,
Ishikawa K.,
Nakajima D.,
Ohira M.,
Seki N.,
Miyajima N.,
Tanaka A.,
Kotani H.,
Nomura N.,
Ohara O.;
"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.";
DNA Res. 4:141-150(1997).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04569; PubMed=16541075 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.E.,
Muzny D.M.,
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.,
Montgomery K.T.,
Morgan M.B.,
Nazareth L.V.,
Scott G.,
Sodergren E.,
Song X.-Z.,
Steffen D.,
Lovering R.C.,
Wheeler D.A.,
Worley K.C.,
Yuan Y.,
Zhang Z.,
Adams C.Q.,
Ansari-Lari M.A.,
Ayele M.,
Brown M.J.,
Chen G.,
Chen Z.,
Clerc-Blankenburg K.P.,
Davis C.,
Delgado O.,
Dinh H.H.,
Draper H.,
Gonzalez-Garay M.L.,
Havlak P.,
Jackson L.R.,
Jacob L.S.,
Kelly S.H.,
Li L.,
Li Z.,
Liu J.,
Liu W.,
Lu J.,
Maheshwari M.,
Nguyen B.-V.,
Okwuonu G.O.,
Pasternak S.,
Perez L.M.,
Plopper F.J.H.,
Santibanez J.,
Shen H.,
Tabor P.E.,
Verduzco D.,
Waldron L.,
Wang Q.,
Williams G.A.,
Zhang J.,
Zhou J.,
Allen C.C.,
Amin A.G.,
Anyalebechi V.,
Bailey M.,
Barbaria J.A.,
Bimage K.E.,
Bryant N.P.,
Burch P.E.,
Burkett C.E.,
Burrell K.L.,
Calderon E.,
Cardenas V.,
Carter K.,
Casias K.,
Cavazos I.,
Cavazos S.R.,
Ceasar H.,
Chacko J.,
Chan S.N.,
Chavez D.,
Christopoulos C.,
Chu J.,
Cockrell R.,
Cox C.D.,
Dang M.,
Dathorne S.R.,
David R.,
Davis C.M.,
Davy-Carroll L.,
Deshazo D.R.,
Donlin J.E.,
D'Souza L.,
Eaves K.A.,
Egan A.,
Emery-Cohen A.J.,
Escotto M.,
Flagg N.,
Forbes L.D.,
Gabisi A.M.,
Garza M.,
Hamilton C.,
Henderson N.,
Hernandez O.,
Hines S.,
Hogues M.E.,
Huang M.,
Idlebird D.G.,
Johnson R.,
Jolivet A.,
Jones S.,
Kagan R.,
King L.M.,
Leal B.,
Lebow H.,
Lee S.,
LeVan J.M.,
Lewis L.C.,
London P.,
Lorensuhewa L.M.,
Loulseged H.,
Lovett D.A.,
Lucier A.,
Lucier R.L.,
Ma J.,
Madu R.C.,
Mapua P.,
Martindale A.D.,
Martinez E.,
Massey E.,
Mawhiney S.,
Meador M.G.,
Mendez S.,
Mercado C.,
Mercado I.C.,
Merritt C.E.,
Miner Z.L.,
Minja E.,
Mitchell T.,
Mohabbat F.,
Mohabbat K.,
Montgomery B.,
Moore N.,
Morris S.,
Munidasa M.,
Ngo R.N.,
Nguyen N.B.,
Nickerson E.,
Nwaokelemeh O.O.,
Nwokenkwo S.,
Obregon M.,
Oguh M.,
Oragunye N.,
Oviedo R.J.,
Parish B.J.,
Parker D.N.,
Parrish J.,
Parks K.L.,
Paul H.A.,
Payton B.A.,
Perez A.,
Perrin W.,
Pickens A.,
Primus E.L.,
Pu L.-L.,
Puazo M.,
Quiles M.M.,
Quiroz J.B.,
Rabata D.,
Reeves K.,
Ruiz S.J.,
Shao H.,
Sisson I.,
Sonaike T.,
Sorelle R.P.,
Sutton A.E.,
Svatek A.F.,
Svetz L.A.,
Tamerisa K.S.,
Taylor T.R.,
Teague B.,
Thomas N.,
Thorn R.D.,
Trejos Z.Y.,
Trevino B.K.,
Ukegbu O.N.,
Urban J.B.,
Vasquez L.I.,
Vera V.A.,
Villasana D.M.,
Wang L.,
Ward-Moore S.,
Warren J.T.,
Wei X.,
White F.,
Williamson A.L.,
Wleczyk R.,
Wooden H.S.,
Wooden S.H.,
Yen J.,
Yoon L.,
Yoon V.,
Zorrilla S.E.,
Nelson D.,
Kucherlapati R.,
Weinstock G.,
Gibbs R.A.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1058 (ISOFORM 1).
TISSUE=Hepatoma, and Placenta;
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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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1616-2382, TISSUE SPECIFICITY, AND DISEASE.
TISSUE=Testis;
DOI=10.1073/pnas.021386498; PubMed=11149944 [NCBI, ExPASy, EBI, Israel, Japan]
Eichmueller S.,
Usener D.,
Dummer R.,
Stein A.,
Thiel D.,
Schadendorf D.;
"Serological detection of cutaneous T-cell lymphoma-associated antigens.";
Proc. Natl. Acad. Sci. U.S.A. 98:629-634(2001).
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[6]
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IDENTIFICATION, SUBCELLULAR LOCATION, AND MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
DOI=10.1038/nature02166; PubMed=14654843 [NCBI, ExPASy, EBI, Israel, Japan]
Andersen J.S.,
Wilkinson C.J.,
Mayor T.,
Mortensen P.,
Nigg E.A.,
Mann M.;
"Proteomic characterization of the human centrosome by protein correlation profiling.";
Nature 426:570-574(2003).
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[7]
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INVOLVEMENT IN LCA10.
DOI=10.1086/507318; PubMed=16909394 [NCBI, ExPASy, EBI, Israel, Japan]
den Hollander A.I.,
Koenekoop R.K.,
Yzer S.,
Lopez I.,
Arends M.L.,
Voesenek K.E.J.,
Zonneveld M.N.,
Strom T.M.,
Meitinger T.,
Brunner H.G.,
Hoyng C.B.,
van den Born L.I.,
Rohrschneider K.,
Cremers F.P.M.;
"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.";
Am. J. Hum. Genet. 79:556-561(2006).
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[8]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1697, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[9]
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INTERACTION WITH CC2D2A.
DOI=10.1016/j.ajhg.2008.10.002; PubMed=18950740 [NCBI, ExPASy, EBI, Israel, Japan]
Gorden N.T.,
Arts H.H.,
Parisi M.A.,
Coene K.L.M.,
Letteboer S.J.F.,
van Beersum S.E.C.,
Mans D.A.,
Hikida A.,
Eckert M.,
Knutzen D.,
Alswaid A.F.,
Oezyurek H.,
Dibooglu S.,
Otto E.A.,
Liu Y.,
Davis E.E.,
Hutter C.M.,
Bammler T.K.,
Farin F.M.,
Dorschner M.,
Topcu M.,
Zackai E.H.,
Rosenthal P.,
Owens K.N.,
Katsanis N.,
Vincent J.B.,
Hildebrandt F.,
Rubel E.W.,
Raible D.W.,
Knoers N.V.A.M.,
Chance P.F.,
Roepman R.,
Moens C.B.,
Glass I.A.,
Doherty D.;
"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.";
Am. J. Hum. Genet. 83:559-571(2008).
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[10]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1209, AND MASS SPECTROMETRY.
DOI=10.2116/analsci.24.161; PubMed=18187866 [NCBI, ExPASy, EBI, Israel, Japan]
Imami K.,
Sugiyama N.,
Kyono Y.,
Tomita M.,
Ishihama Y.;
"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
Anal. Sci. 24:161-166(2008).
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[11]
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VARIANT JBTS5 CYS-7.
DOI=10.1038/ng1805; PubMed=16682970 [NCBI, ExPASy, EBI, Israel, Japan] International Joubert syndrome related disorders (JSRD) study group;
Valente E.M.,
Silhavy J.L.,
Brancati F.,
Barrano G.,
Krishnaswami S.R.,
Castori M.,
Lancaster M.A.,
Boltshauser E.,
Boccone L.,
Al-Gazali L.,
Fazzi E.,
Signorini S.,
Louie C.M.,
Bellacchio E.,
Bertini E.,
Dallapiccola B.,
Gleeson J.G.;
"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.";
Nat. Genet. 38:623-625(2006).
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[12]
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INVOLVEMENT IN MKS4.
DOI=10.1086/519494; PubMed=17564974 [NCBI, ExPASy, EBI, Israel, Japan]
Baala L.,
Audollent S.,
Martinovic J.,
Ozilou C.,
Babron M.-C.,
Sivanandamoorthy S.,
Saunier S.,
Salomon R.,
Gonzales M.,
Rattenberry E.,
Esculpavit C.,
Toutain A.,
Moraine C.,
Parent P.,
Marcorelles P.,
Dauge M.-C.,
Roume J.,
Le Merrer M.,
Meiner V.,
Meir K.,
Menez F.,
Beaufrere A.-M.,
Francannet C.,
Tantau J.,
Sinico M.,
Dumez Y.,
MacDonald F.,
Munnich A.,
Lyonnet S.,
Gubler M.-C.,
Genin E.,
Johnson C.A.,
Vekemans M.,
Encha-Razavi F.,
Attie-Bitach T.;
"Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.";
Am. J. Hum. Genet. 81:170-179(2007).
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