[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1093/hmg/4.10.1919; PubMed=8595416 [NCBI, ExPASy, EBI, Israel, Japan]
Boucher C.A.,
King S.K.,
Carey N.,
Krahe R.,
Winchester C.L.,
Rahman S.,
Creavin T.,
Meghji P.,
Bailey M.E.,
Chartier F.L.,
Brown S.D.,
Sicilliano M.J.,
Johnson K.J.;
"A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.";
Hum. Mol. Genet. 4:1919-1925(1995).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02399; PubMed=15057824 [NCBI, ExPASy, EBI, Israel, Japan]
Grimwood J.,
Gordon L.A.,
Olsen A.S.,
Terry A.,
Schmutz J.,
Lamerdin J.E.,
Hellsten U.,
Goodstein D.,
Couronne O.,
Tran-Gyamfi M.,
Aerts A.,
Altherr M.,
Ashworth L.,
Bajorek E.,
Black S.,
Branscomb E.,
Caenepeel S.,
Carrano A.V.,
Caoile C., ![]()
Chan Y.M.,
Christensen M.,
Cleland C.A.,
Copeland A.,
Dalin E.,
Dehal P.,
Denys M.,
Detter J.C.,
Escobar J.,
Flowers D.,
Fotopulos D.,
Garcia C.,
Georgescu A.M.,
Glavina T.,
Gomez M.,
Gonzales E.,
Groza M.,
Hammon N.,
Hawkins T.,
Haydu L.,
Ho I.,
Huang W.,
Israni S.,
Jett J.,
Kadner K.,
Kimball H.,
Kobayashi A.,
Larionov V.,
Leem S.-H.,
Lopez F.,
Lou Y.,
Lowry S.,
Malfatti S.,
Martinez D.,
McCready P.M.,
Medina C.,
Morgan J.,
Nelson K.,
Nolan M.,
Ovcharenko I.,
Pitluck S.,
Pollard M.,
Popkie A.P.,
Predki P.,
Quan G.,
Ramirez L.,
Rash S.,
Retterer J.,
Rodriguez A.,
Rogers S.,
Salamov A.,
Salazar A.,
She X.,
Smith D.,
Slezak T.,
Solovyev V.,
Thayer N.,
Tice H.,
Tsai M.,
Ustaszewska A.,
Vo N.,
Wagner M.,
Wheeler J.,
Wu K.,
Xie G.,
Yang J.,
Dubchak I.,
Furey T.S.,
DeJong P.,
Dickson M.,
Gordon D.,
Eichler E.E.,
Pennacchio L.A.,
Richardson P.,
Stubbs L.,
Rokhsar D.S.,
Myers R.M.,
Rubin E.M.,
Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Eye;
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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[4]
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RECONSTRUCTION FROM GENOMIC SEQUENCE AND ESTS, AND CONCEPTUAL TRANSLATION OF 5-184 (ISOFORM 1).
Roechert B.;
Unpublished observations (JAN-2004).
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[5]
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NUCLEOTIDE SEQUENCE OF 74-290 (ISOFORM 1).
The MGC Project Team;
Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 185-739 (ISOFORM 1).
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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[7]
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TISSUE SPECIFICITY.
DOI=10.1093/hmg/8.3.481; PubMed=9949207 [NCBI, ExPASy, EBI, Israel, Japan]
Winchester C.L.,
Ferrier R.K.,
Sermoni A.,
Clark B.J.,
Johnson K.J.;
"Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.";
Hum. Mol. Genet. 8:481-492(1999).
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[8]
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DNA-BINDING.
DOI=10.1093/nar/28.9.1871; PubMed=10756185 [NCBI, ExPASy, EBI, Israel, Japan]
Harris S.E.,
Winchester C.L.,
Johnson K.J.;
"Functional analysis of the homeodomain protein SIX5.";
Nucleic Acids Res. 28:1871-1878(2000).
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[9]
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SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
DOI=10.1023/A:1020990825644; PubMed=12500905 [NCBI, ExPASy, EBI, Israel, Japan]
Fougerousse F.,
Durand M.,
Lopez S.,
Suel L.,
Demignon J.,
Thornton C.,
Ozaki H.,
Kawakami K.,
Barbet P.,
Beckmann J.S.,
Maire P.;
"Six and Eya expression during human somitogenesis and MyoD gene family activation.";
J. Muscle Res. Cell Motil. 23:255-264(2002).
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[10]
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VARIANTS BOR2 THR-158; THR-296; ARG-365 AND MET-552, AND CHARACTERIZATION OF VARIANTS BOR2 THR-158 AND MET-552.
DOI=10.1086/513322; PubMed=17357085 [NCBI, ExPASy, EBI, Israel, Japan]
Hoskins B.E.,
Cramer C.H.,
Silvius D.,
Zou D.,
Raymond R.M.,
Orten D.J.,
Kimberling W.J.,
Smith R.J.H.,
Weil D.,
Petit C.,
Otto E.A.,
Xu P.-X.,
Hildebrandt F.;
"Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.";
Am. J. Hum. Genet. 80:800-804(2007).
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