“CRB1”的意思、由来-开放百科全书

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined.^[3] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.^[4]

References

1. ^{{cite journal | vauthors = den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP | title = Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization | journal = Genomics | volume = 58 | issue = 3 | pages = 240–9 |date=Jul 1999 | pmid = 10373321 | pmc = | doi = 10.1006/geno.1999.5823 }}
2. ^{{cite journal | vauthors = den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA | title = Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) | journal = Nat Genet | volume = 23 | issue = 2 | pages = 217–21 |date=Oct 1999 | pmid = 10508521 | pmc = | doi = 10.1038/13848 }}
3. ^¹{{cite web | title = Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23418| accessdate = }}
4. ^{{cite journal |vauthors=McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee R, Malicki J |title=CRB1 GENE MUTATIONS ARE ASSOCIATED WITH KERATOCONUS IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS |journal=Invest. Ophthalmol. Vis. Sci. |volume= 50|issue= 7|pages= 3185–7|date=April 2009 |pmid=19407021 |doi=10.1167/iovs.08-2886 |url=}}

Further reading

{{Cite journal | author=den Hollander AI |title=CRB1 mutation spectrum in inherited retinal dystrophies |journal=Hum. Mutat. |volume=24 |issue= 5 |pages= 355–69 |year= 2005 |pmid= 15459956 |doi= 10.1002/humu.20093 |name-list-format=vanc| author2=Davis J | author3=van der Velde-Visser SD | display-authors=3 | last4=Zonneveld | first4=Marijke N. | last5=Pierrottet | first5=Chiara O. | last6=Koenekoop | first6=Robert K. | last7=Kellner | first7=Ulrich | last8=Van Den Born | first8=L. Ingeborgh | last9=Heckenlively | first9=John R. }}

{{Cite journal | author=van Soest S |title=Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population |journal=Genomics |volume=22 |issue= 3 |pages= 499–504 |year= 1995 |pmid= 8001962 |doi=10.1006/geno.1994.1422 |name-list-format=vanc| author2=Ingeborgh van den Born L | author3=Gal A | display-authors=3 | last4=Farrar | first4=GJ | last5=Bleeker-Wagemakers | first5=LM | last6=Westerveld | first6=A | last7=Humphries | first7=P | last8=Sandkuijl | first8=LA | last9=Bergen | first9=AA }}

{{Cite journal | author=van Soest S |title=Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC) |journal=Cytogenet. Cell Genet. |volume=73 |issue= 1–2 |pages= 81–5 |year= 1996 |pmid= 8646891 |doi=10.1159/000134313 |name-list-format=vanc| author2=te Nijenhuis S | author3=van den Born LI | display-authors=3 | last4=Bleeker-Wagemakers | first4=E.M. | last5=Sharp | first5=E. | last6=Sandkuijl | first6=L.A. | last7=Westerveld | first7=A. | last8=Bergen | first8=A.A.B. }}

{{Cite journal | author=Lotery AJ |title=Mutations in the CRB1 gene cause Leber congenital amaurosis |journal=Arch. Ophthalmol. |volume=119 |issue= 3 |pages= 415–20 |year= 2001 |pmid= 11231775 |doi= 10.1001/archopht.119.3.415|name-list-format=vanc| author2=Jacobson SG | author3=Fishman GA | display-authors=3 | last4=Weleber | first4=RG | last5=Fulton | first5=AB | last6=Namperumalsamy | first6=P | last7=Héon | first7=E | last8=Levin | first8=AV | last9=Grover | first9=S }}

{{Cite journal | author=den Hollander AI |title=Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 198–203 |year= 2001 |pmid= 11389483 |doi=10.1086/321263 | pmc=1226034 |name-list-format=vanc| author2=Heckenlively JR | author3=van den Born LI | display-authors=3 | last4=De Kok | first4=Yvette J.M. | last5=Van Der Velde-Visser | first5=Saskia D. | last6=Kellner | first6=Ulrich | last7=Jurklies | first7=Bernhard | last8=Van Schooneveld | first8=Mary J. | last9=Blankenagel | first9=Anita }}

{{Cite journal | author=Lotery AJ |title=CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation |journal=Ophthalmic Genet. |volume=22 |issue= 3 |pages= 163–9 |year= 2001 |pmid= 11559858 |doi=10.1076/opge.22.3.163.2222 |name-list-format=vanc| author2=Malik A | author3=Shami SA | display-authors=3 | last4=Sindhi | first4=Mehtab | last5=Chohan | first5=Bashir | last6=Maqbool | first6=Captain | last7=Moore | first7=Paula A. | last8=Denton | first8=Michael J. | last9=Stone | first9=Edwin M. }}

{{Cite journal | author=den Hollander AI |title=CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2767–73 |year= 2002 |pmid= 11734541 |doi=10.1093/hmg/10.24.2767 |name-list-format=vanc| author2=Johnson K | author3=de Kok YJ | display-authors=3 | last4=Klebes | first4=A | last5=Brunner | first5=HG | last6=Knust | first6=E | last7=Cremers | first7=FP }}

{{Cite journal | author=Izaddoost S |title=Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres |journal=Nature |volume=416 |issue= 6877 |pages= 178–83 |year= 2002 |pmid= 11850624 |doi= 10.1038/nature720 |name-list-format=vanc| author2=Nam SC | author3=Bhat MA | display-authors=3 | last4=Bellen | first4=Hugo J. | last5=Choi | first5=Kwang-Wook }}

{{Cite journal | author=Roh MH |title=The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost |journal=J. Cell Biol. |volume=157 |issue= 1 |pages= 161–72 |year= 2002 |pmid= 11927608 |doi= 10.1083/jcb.200109010 | pmc=2173254 |name-list-format=vanc| author2=Makarova O | author3=Liu CJ | display-authors=3 | last4=Shin | first4=K | last5=Lee | first5=S | last6=Laurinec | first6=S | last7=Goyal | first7=M | last8=Wiggins | first8=R | last9=Margolis | first9=B }}

{{Cite journal | author=Gerber S |title=A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis |journal=Ophthalmic Genet. |volume=23 |issue= 4 |pages= 225–35 |year= 2003 |pmid= 12567265 |doi=10.1076/opge.23.4.225.13879 |name-list-format=vanc| author2=Perrault I | author3=Hanein S | display-authors=3 | last4=Shalev | first4=Stavit | last5=Zlotogora | first5=Joel | last6=Barbet | first6=Fabienne | last7=Ducroq | first7=Dominique | last8=Dufier | first8=Jean-Louis | last9=Munnich | first9=Arnold }}

{{Cite journal | author=Khaliq S |title=Mutation screening of Pakistani families with congenital eye disorders |journal=Exp. Eye Res. |volume=76 |issue= 3 |pages= 343–8 |year= 2003 |pmid= 12573663 |doi=10.1016/S0014-4835(02)00304-4 |name-list-format=vanc| author2=Abid A | author3=Hameed A | display-authors=3 | last4=Anwar | first4=Khalid | last5=Mohyuddin | first5=Aisha | last6=Azmat | first6=Zobia | last7=Shami | first7=S.A | last8=Ismail | first8=Muhammad | last9=Mehdi | first9=S.Qasim }}

{{Cite journal | author=Jacobson SG |title=Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination |journal=Hum. Mol. Genet. |volume=12 |issue= 9 |pages= 1073–8 |year= 2003 |pmid= 12700176 |doi=10.1093/hmg/ddg117 |name-list-format=vanc| author2=Cideciyan AV | author3=Aleman TS | display-authors=3 | last4=Pianta | first4=MJ | last5=Sumaroka | first5=A | last6=Schwartz | first6=SB | last7=Smilko | first7=EE | last8=Milam | first8=AH | last9=Sheffield | first9=VC }}

{{Cite journal | author=Bernal S |title=Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa |journal=J. Med. Genet. |volume=40 |issue= 7 |pages= e89 |year= 2003 |pmid= 12843338 |doi=10.1136/jmg.40.7.e89 | pmc=1735523 |name-list-format=vanc| author2=Calaf M | author3=Garcia-Hoyos M | display-authors=3 | last4=Garcia-Sandoval | first4=B | last5=Rosell | first5=J | last6=Adan | first6=A | last7=Ayuso | first7=C | last8=Baiget | first8=M }}

{{Cite journal | author=Hanein S |title=Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis |journal=Hum. Mutat. |volume=23 |issue= 4 |pages= 306–17 |year= 2004 |pmid= 15024725 |doi= 10.1002/humu.20010 |name-list-format=vanc| author2=Perrault I | author3=Gerber S | display-authors=3 | last4=Tanguy | first4=Gaëlle | last5=Barbet | first5=Fabienne | last6=Ducroq | first6=Dominique | last7=Calvas | first7=Patrick | last8=Dollfus | first8=Hélène | last9=Hamel | first9=Christian }}

{{Cite journal | author=McKay GJ |title=Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 1 |pages= 322–8 |year= 2005 |pmid= 15623792 |doi= 10.1167/iovs.04-0734 |name-list-format=vanc| author2=Clarke S | author3=Davis JA | display-authors=3 | last4=Simpson | first4=DA | last5=Silvestri | first5=G }}

{{Cite journal | author=Kantardzhieva A |title=MPP5 recruits MPP4 to the CRB1 complex in photoreceptors |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 6 |pages= 2192–201 |year= 2005 |pmid= 15914641 |doi= 10.1167/iovs.04-1417 |name-list-format=vanc| author2=Gosens I | author3=Alexeeva S | display-authors=3 | last4=Punte | first4=IM | last5=Versteeg | first5=I | last6=Krieger | first6=E | last7=Neefjes-Mol | first7=CA | last8=Den Hollander | first8=AI | last9=Letteboer | first9=SJ }}

{{Cite journal | author=Booij JC |title=Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa |journal=J. Med. Genet. |volume=42 |issue= 11 |pages= e67 |year= 2006 |pmid= 16272259 |doi= 10.1136/jmg.2005.035121 | pmc=1735944 |name-list-format=vanc| author2=Florijn RJ | author3=ten Brink JB | display-authors=3 | last4=Loves | first4=W | last5=Meire | first5=F | last6=Van Schooneveld | first6=MJ | last7=De Jong | first7=PT | last8=Bergen | first8=AA }}

References

External links

Further reading