CRB1 Gene

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1		Vicky Zhou	+ 399 word(s)	399	2020-12-15 07:49:02

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Zhou, V. CRB1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5272 (accessed on 22 September 2026).

Zhou V. CRB1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5272. Accessed September 22, 2026.

Zhou, Vicky. "CRB1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5272 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CRB1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5272

Zhou, Vicky. "CRB1 Gene." Encyclopedia. Web. 24 December, 2020.

CRB1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/crb1

crumbs 1, cell polarity complex component

genes

References

den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, PierrottetCO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, HandfordPA, Roepman R, Cremers FP. CRB1 mutation spectrum in inherited retinaldystrophies. Hum Mutat. 2004 Nov;24(5):355-69. Review.
den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van derVelde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A,Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG,Apfelstedt-Sylla E, Hoyng CB, Cremers FP. Leber congenital amaurosis andretinitis pigmentosa with Coats-like exudative vasculopathy are associated withmutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001Jul;69(1):198-203.Nov;69(5):1160.
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenitalamaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003.Review.
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, vanDriel 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. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217-21.
Gosens I, den Hollander AI, Cremers FP, Roepman R. Composition and function ofthe Crumbs protein complex in the mammalian retina. Exp Eye Res. 2008May;86(5):713-26. doi: 10.1016/j.exer.2008.02.005.
Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB,Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutationsresult in a thick human retina with abnormal lamination. Hum Mol Genet. 2003 May 1;12(9):1073-8.
Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P,Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM.Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol.2001 Mar;119(3):415-20.
Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E,Wijnholds J, Cremers FP. Towards understanding CRUMBS function in retinaldystrophies. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R235-43. Review.
van de Pavert SA, Kantardzhieva A, Malysheva A, Meuleman J, Versteeg I, LeveltC, Klooster J, Geiger S, Seeliger MW, Rashbass P, Le Bivic A, Wijnholds J. Crumbshomologue 1 is required for maintenance of photoreceptor cell polarization andadhesion during light exposure. J Cell Sci. 2004 Aug 15;117(Pt 18):4169-77.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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