CRX (gene): Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{DISPLAYTITLE:''CRX'' (gene)}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Cone-rod homeobox protein''' is a [[protein]] that in humans is encoded by the ''CRX'' [[gene]].<ref name="pmid9390563">{{cite journal | vauthors = Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR | title = Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor | journal = Cell | volume = 91 | issue = 4 | pages = 543-53 | date = Nov 1997 | pmid = 9390563 | pmc =  | doi = 10.1016/S0092-8674(00)80440-7 }}</ref><ref name="pmid9537410">{{cite journal | vauthors = Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM | title = De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis | journal = Nature Genetics | volume = 18 | issue = 4 | pages = 311-2 | date = Apr 1998 | pmid = 9537410 | pmc = | doi = 10.1038/ng0498-311 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CRX cone-rod homeobox| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1406| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Cone-rod homeobox
| HGNCid = 2383
| Symbol = CRX
| AltSymbols =; CORD2; CRD; LCA7; OTX3
| OMIM = 602225
| ECnumber = 
| Homologene = 467
| MGIid = 1194883
| GeneAtlas_image1 = PBB_GE_CRX_217510_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005667 |text = transcription factor complex}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1406
    | Hs_Ensembl = ENSG00000105392
    | Hs_RefseqProtein = NP_000545
    | Hs_RefseqmRNA = NM_000554
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 19
    | Hs_GenLoc_start = 53016976
    | Hs_GenLoc_end = 53038392
    | Hs_Uniprot = O43186
    | Mm_EntrezGene = 12951
    | Mm_Ensembl = ENSMUSG00000041578
    | Mm_RefseqmRNA = NM_007770
    | Mm_RefseqProtein = NP_031796
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 15024471
    | Mm_GenLoc_end = 15038416
    | Mm_Uniprot = Q543C9
  }}
}}
'''Cone-rod homeobox''', also known as '''CRX''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CRX cone-rod homeobox| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1406| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. [[Mutation|Mutations]] in this gene are associated with photoreceptor degeneration, [[Leber's congenital amaurosis]] type III and the autosomal dominant [[Cone dystrophy|cone-rod dystrophy]] 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: CRX cone-rod homeobox| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1406| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B | title = Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame | journal = Ophthalmology | volume = 114 | issue = 7 | pages = 1348-1357.e1 | date = Jul 2007 | pmid = 17320181 | doi = 10.1016/j.ophtha.2006.10.034 }}
| citations =
* {{cite journal | vauthors = Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S | title = Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion | journal = Nature Genetics | volume = 6 | issue = 2 | pages = 210-3 | date = Feb 1994 | pmid = 8162077 | doi = 10.1038/ng0294-210 }}
*{{cite journal | author=Paunescu K, Preising MN, Janke B, ''et al.'' |title=Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. |journal=Ophthalmology |volume=114 |issue= 7 |pages= 1348-1357.e1 |year= 2007 |pmid= 17320181 |doi= 10.1016/j.ophtha.2006.10.034 }}
* {{cite journal | vauthors = Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ | title = Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes | journal = Neuron | volume = 19 | issue = 5 | pages = 1017-30 | date = Nov 1997 | pmid = 9390516 | doi = 10.1016/S0896-6273(00)80394-3 }}
*{{cite journal | author=Evans K, Fryer A, Inglehearn C, ''et al.'' |title=Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. |journal=Nat. Genet. |volume=6 |issue= 2 |pages= 210-3 |year= 1994 |pmid= 8162077 |doi= 10.1038/ng0294-210 }}
* {{cite journal | vauthors = Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ | title = Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration | journal = Neuron | volume = 19 | issue = 6 | pages = 1329-36 | date = Dec 1997 | pmid = 9427255 | doi = 10.1016/S0896-6273(00)80423-7 }}
*{{cite journal | author=Chen S, Wang QL, Nie Z, ''et al.'' |title=Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. |journal=Neuron |volume=19 |issue= 5 |pages= 1017-30 |year= 1997 |pmid= 9390516 |doi= }}
* {{cite journal | vauthors = Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP | title = A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene | journal = American Journal of Human Genetics | volume = 63 | issue = 5 | pages = 1307-15 | date = Nov 1998 | pmid = 9792858 | pmc = 1377541 | doi = 10.1086/302101 }}
*{{cite journal | author=Freund CL, Gregory-Evans CY, Furukawa T, ''et al.'' |title=Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. |journal=Cell |volume=91 |issue= 4 |pages= 543-53 |year= 1997 |pmid= 9390563 |doi= }}
* {{cite journal | vauthors = Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA | title = 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 | journal = Human Molecular Genetics | volume = 8 | issue = 2 | pages = 299-305 | date = Feb 1999 | pmid = 9931337 | doi = 10.1093/hmg/8.2.299 }}
*{{cite journal | author=Swain PK, Chen S, Wang QL, ''et al.'' |title=Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. |journal=Neuron |volume=19 |issue= 6 |pages= 1329-36 |year= 1998 |pmid= 9427255 |doi= }}
* {{cite journal | vauthors = Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS | title = A mutation in NRL is associated with autosomal dominant retinitis pigmentosa | journal = Nature Genetics | volume = 21 | issue = 4 | pages = 355-6 | date = Apr 1999 | pmid = 10192380 | doi = 10.1038/7678 }}
*{{cite journal | author=Freund CL, Wang QL, Chen S, ''et al.'' |title=De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. |journal=Nat. Genet. |volume=18 |issue= 4 |pages= 311-2 |year= 1998 |pmid= 9537410 |doi= 10.1038/ng0498-311 }}
* {{cite journal | vauthors = Yanagi Y, Masuhiro Y, Mori M, Yanagisawa J, Kato S | title = p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor | journal = Biochemical and Biophysical Research Communications | volume = 269 | issue = 2 | pages = 410-4 | date = Mar 2000 | pmid = 10708567 | doi = 10.1006/bbrc.2000.2304 }}
*{{cite journal | author=Sohocki MM, Sullivan LS, Mintz-Hittner HA, ''et al.'' |title=A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. |journal=Am. J. Hum. Genet. |volume=63 |issue= 5 |pages= 1307-15 |year= 1998 |pmid= 9792858 |doi= }}
* {{cite journal | vauthors = Zhu X, Craft CM | title = Modulation of CRX transactivation activity by phosducin isoforms | journal = Molecular and Cellular Biology | volume = 20 | issue = 14 | pages = 5216-26 | date = Jul 2000 | pmid = 10866677 | pmc = 85970 | doi = 10.1128/MCB.20.14.5216-5226.2000 }}
*{{cite journal | author=Swaroop A, Wang QL, Wu W, ''et al.'' |title=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. |journal=Hum. Mol. Genet. |volume=8 |issue= 2 |pages= 299-305 |year= 1999 |pmid= 9931337 |doi= }}
* {{cite journal | vauthors = Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A | title = The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation | journal = The Journal of Biological Chemistry | volume = 275 | issue = 38 | pages = 29794-9 | date = Sep 2000 | pmid = 10887186 | doi = 10.1074/jbc.M003658200 }}
*{{cite journal | author=Bessant DA, Payne AM, Mitton KP, ''et al.'' |title=A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 355-6 |year= 1999 |pmid= 10192380 |doi= 10.1038/7678 }}
* {{cite journal | vauthors = Bibb LC, Holt JK, Tarttelin EE, Hodges MD, Gregory-Evans K, Rutherford A, Lucas RJ, Sowden JC, Gregory-Evans CY | title = Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development | journal = Human Molecular Genetics | volume = 10 | issue = 15 | pages = 1571-9 | date = Jul 2001 | pmid = 11468275 | doi = 10.1093/hmg/10.15.1571 }}
*{{cite journal | author=Yanagi Y, Masuhiro Y, Mori M, ''et al.'' |title=p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor. |journal=Biochem. Biophys. Res. Commun. |volume=269 |issue= 2 |pages= 410-4 |year= 2000 |pmid= 10708567 |doi= 10.1006/bbrc.2000.2304 }}
* {{cite journal | vauthors = La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S | title = Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7 | journal = Neuron | volume = 31 | issue = 6 | pages = 913-27 | date = Sep 2001 | pmid = 11580893 | doi = 10.1016/S0896-6273(01)00422-6 }}
*{{cite journal | author=Zhu X, Craft CM |title=Modulation of CRX transactivation activity by phosducin isoforms. |journal=Mol. Cell. Biol. |volume=20 |issue= 14 |pages= 5216-26 |year= 2000 |pmid= 10866677 |doi= }}
* {{cite journal | vauthors = Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP | title = Novel frameshift mutations in CRX associated with Leber congenital amaurosis | journal = Human Mutation | volume = 18 | issue = 6 | pages = 550-1 | date = Dec 2001 | pmid = 11748859 | doi = 10.1002/humu.1243 }}
*{{cite journal | author=Mitton KP, Swain PK, Chen S, ''et al.'' |title=The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. |journal=J. Biol. Chem. |volume=275 |issue= 38 |pages= 29794-9 |year= 2000 |pmid= 10887186 |doi= 10.1074/jbc.M003658200 }}
* {{cite journal | vauthors = Koenekoop RK, Loyer M, Dembinska O, Beneish R | title = Visual improvement in Leber congenital amaurosis and the CRX genotype | journal = Ophthalmic Genetics | volume = 23 | issue = 1 | pages = 49-59 | date = Mar 2002 | pmid = 11910559 | doi = 10.1076/opge.23.1.49.2200 }}
*{{cite journal | author=Bibb LC, Holt JK, Tarttelin EE, ''et al.'' |title=Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. |journal=Hum. Mol. Genet. |volume=10 |issue= 15 |pages= 1571-9 |year= 2001 |pmid= 11468275 |doi= }}
* {{cite journal | vauthors = Chen S, Wang QL, Xu S, Liu I, Li LY, Wang Y, Zack DJ | title = Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy | journal = Human Molecular Genetics | volume = 11 | issue = 8 | pages = 873-84 | date = Apr 2002 | pmid = 11971869 | doi = 10.1093/hmg/11.8.873 }}
*{{cite journal | author=La Spada AR, Fu YH, Sopher BL, ''et al.'' |title=Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. |journal=Neuron |volume=31 |issue= 6 |pages= 913-27 |year= 2001 |pmid= 11580893 |doi= }}
* {{cite journal | vauthors = Nakamura M, Ito S, Miyake Y | title = Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis | journal = American Journal of Ophthalmology | volume = 134 | issue = 3 | pages = 465-7 | date = Sep 2002 | pmid = 12208271 | doi = 10.1016/S0002-9394(02)01542-8 }}
*{{cite journal | author=Rivolta C, Peck NE, Fulton AB, ''et al.'' |title=Novel frameshift mutations in CRX associated with Leber congenital amaurosis. |journal=Hum. Mutat. |volume=18 |issue= 6 |pages= 550-1 |year= 2002 |pmid= 11748859 |doi= 10.1002/humu.1243 }}
* {{cite journal | vauthors = Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM | title = Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation | journal = Ophthalmology | volume = 109 | issue = 10 | pages = 1862-70 | date = Oct 2002 | pmid = 12359607 | doi = 10.1016/S0161-6420(02)01187-9 }}
*{{cite journal | author=Koenekoop RK, Loyer M, Dembinska O, Beneish R |title=Visual improvement in Leber congenital amaurosis and the CRX genotype. |journal=Ophthalmic Genet. |volume=23 |issue= 1 |pages= 49-59 |year= 2002 |pmid= 11910559 |doi= }}
* {{cite journal | vauthors = Hodges MD, Vieira H, Gregory-Evans K, Gregory-Evans CY | title = Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse | journal = Genomics | volume = 80 | issue = 5 | pages = 531-42 | date = Nov 2002 | pmid = 12408971 | doi = 10.1016/S0888-7543(02)96854-0 }}
*{{cite journal | author=Chen S, Wang QL, Xu S, ''et al.'' |title=Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 8 |pages= 873-84 |year= 2003 |pmid= 11971869 |doi= }}
*{{cite journal | author=Nakamura M, Ito S, Miyake Y |title=Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. |journal=Am. J. Ophthalmol. |volume=134 |issue= 3 |pages= 465-7 |year= 2002 |pmid= 12208271 |doi= }}
*{{cite journal  | author=Lines MA, Hébert M, McTaggart KE, ''et al.'' |title=Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. |journal=Ophthalmology |volume=109 |issue= 10 |pages= 1862-70 |year= 2002 |pmid= 12359607 |doi=  }}
*{{cite journal  | author=Hodges MD, Vieira H, Gregory-Evans K, Gregory-Evans CY |title=Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse. |journal=Genomics |volume=80 |issue= 5 |pages= 531-42 |year= 2003 |pmid= 12408971 |doi=  }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* [https://www.ncbi.nlm.nih.gov/books/NBK1417/  GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
* {{MeshName|CRX+protein,+human}}
* {{MeshName|CRX+protein,+human}}
* {{UCSC gene info|CRX}}


 
{{gene-19-stub}}
{{protein-stub}}
{{NLM content}}
{{NLM content}}
{{Transcription factors}}
{{Transcription factors|g3}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 20:15, 17 August 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[1][2][3]

Function

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber's congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.[3]

References

  1. ↑ Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR (Nov 1997). "Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor". Cell. 91 (4): 543–53. doi:10.1016/S0092-8674(00)80440-7. PMID 9390563.
  2. ↑ Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM (Apr 1998). "De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis". Nature Genetics. 18 (4): 311–2. doi:10.1038/ng0498-311. PMID 9537410.
  3. ↑ 3.0 3.1 "Entrez Gene: CRX cone-rod homeobox".

Further reading

  • Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B (Jul 2007). "Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame". Ophthalmology. 114 (7): 1348–1357.e1. doi:10.1016/j.ophtha.2006.10.034. PMID 17320181.
  • Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S (Feb 1994). "Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion". Nature Genetics. 6 (2): 210–3. doi:10.1038/ng0294-210. PMID 8162077.
  • Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ (Nov 1997). "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes". Neuron. 19 (5): 1017–30. doi:10.1016/S0896-6273(00)80394-3. PMID 9390516.
  • Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ (Dec 1997). "Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration". Neuron. 19 (6): 1329–36. doi:10.1016/S0896-6273(00)80423-7. PMID 9427255.
  • Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP (Nov 1998). "A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene". American Journal of Human Genetics. 63 (5): 1307–15. doi:10.1086/302101. PMC 1377541. PMID 9792858.
  • Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA (Feb 1999). "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". Human Molecular Genetics. 8 (2): 299–305. doi:10.1093/hmg/8.2.299. PMID 9931337.
  • Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS (Apr 1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nature Genetics. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380.
  • Yanagi Y, Masuhiro Y, Mori M, Yanagisawa J, Kato S (Mar 2000). "p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor". Biochemical and Biophysical Research Communications. 269 (2): 410–4. doi:10.1006/bbrc.2000.2304. PMID 10708567.
  • Zhu X, Craft CM (Jul 2000). "Modulation of CRX transactivation activity by phosducin isoforms". Molecular and Cellular Biology. 20 (14): 5216–26. doi:10.1128/MCB.20.14.5216-5226.2000. PMC 85970. PMID 10866677.
  • Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A (Sep 2000). "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation". The Journal of Biological Chemistry. 275 (38): 29794–9. doi:10.1074/jbc.M003658200. PMID 10887186.
  • Bibb LC, Holt JK, Tarttelin EE, Hodges MD, Gregory-Evans K, Rutherford A, Lucas RJ, Sowden JC, Gregory-Evans CY (Jul 2001). "Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development". Human Molecular Genetics. 10 (15): 1571–9. doi:10.1093/hmg/10.15.1571. PMID 11468275.
  • La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S (Sep 2001). "Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7". Neuron. 31 (6): 913–27. doi:10.1016/S0896-6273(01)00422-6. PMID 11580893.
  • Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP (Dec 2001). "Novel frameshift mutations in CRX associated with Leber congenital amaurosis". Human Mutation. 18 (6): 550–1. doi:10.1002/humu.1243. PMID 11748859.
  • Koenekoop RK, Loyer M, Dembinska O, Beneish R (Mar 2002). "Visual improvement in Leber congenital amaurosis and the CRX genotype". Ophthalmic Genetics. 23 (1): 49–59. doi:10.1076/opge.23.1.49.2200. PMID 11910559.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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