[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CORD2 ALA-80.
DOI=10.1016/S0092-8674(00)80440-7; PubMed=9390563 [NCBI, ExPASy, EBI, Israel, Japan]
Freund C.L.,
Gregory-Evans C.Y.,
Furukawa T.,
Papaioannou M.,
Looser J.,
Ploder L.,
Bellingham J.,
Ng D.,
Herbrick J.-A.S.,
Duncan A.,
Scherer S.W.,
Tsui L.-C.,
Loutradis-Anagnostou A.,
Jacobson S.G.,
Cepko C.L.,
Bhattacharya S.S.,
McInnes R.R.;
"Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.";
Cell 91:543-553(1997).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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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INTERACTION WITH RAX2.
DOI=10.1093/hmg/ddh117; PubMed=15028672 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Q.-L.,
Chen S.,
Esumi N.,
Swain P.K.,
Haines H.S.,
Peng G.,
Melia B.M.,
McIntosh I.,
Heckenlively J.R.,
Jacobson S.G.,
Stone E.M.,
Swaroop A.,
Zack D.J.;
"QRX, a novel homeobox gene, modulates photoreceptor gene expression.";
Hum. Mol. Genet. 13:1025-1040(2004).
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[5]
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VARIANTS CORD2 TRP-41 AND MET-242, VARIANT RP GLN-41, AND VARIANT THR-158.
DOI=10.1016/S0896-6273(00)80423-7; PubMed=9427255 [NCBI, ExPASy, EBI, Israel, Japan]
Swain P.K.,
Chen S.,
Wang Q.-L.,
Affatigato L.M.,
Coats C.L.,
Brady K.D.,
Fishman G.A.,
Jacobson S.G.,
Swaroop A.,
Stone E.,
Sieving P.A.,
Zack D.J.;
"Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.";
Neuron 19:1329-1336(1997).
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[6]
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VARIANT RP GLN-41, VARIANT CORD2 ALA-80, AND VARIANT LCA1 146-LEU--PRO-149 DEL.
DOI=10.1086/302101; PubMed=9792858 [NCBI, ExPASy, EBI, Israel, Japan]
Sohocki M.M.,
Sullivan L.S.,
Mintz-Hittner H.A.,
Birch D.,
Heckenlively J.R.,
Freund C.L.,
McInnes R.R.,
Daiger S.P.;
"A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.";
Am. J. Hum. Genet. 63:1307-1315(1998).
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[7]
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VARIANT LCA1 TRP-90.
DOI=10.1093/hmg/8.2.299; PubMed=9931337 [NCBI, ExPASy, EBI, Israel, Japan]
Swaroop A.,
Wang Q.-L.,
Wu W.,
Cook J.,
Coats C.,
Xu S.,
Chen S.,
Zack D.J.,
Sieving P.A.;
"Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.";
Hum. Mol. Genet. 8:299-305(1999).
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[8]
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VARIANT [LARGE SCALE ANALYSIS] PHE-141.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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