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Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.

Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, Redmond E, Clarke L, Ellins E, Mohamed S, Pavord I, Klein N, Hunt DM, Moore AT, Halcox J, Sisodiya SM.

Eur J Hum Genet. 2011 Feb;19(2):131-7. doi: 10.1038/ejhg.2010.147. Epub 2010 Sep 22. Erratum in: Eur J Hum Genet. 2011 Sep;19(9):1018. Klein, Nigel [added].


The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14.


Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K.

J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891.


Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Riazuddin S, Hejtmancik JF.

Hum Genet. 2007 Nov;122(3-4):293-9. Epub 2007 Jun 29.


Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E.

Mol Vis. 2009 Aug 28;15:1709-16.


Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice.

Dellett M, Sasai N, Nishide K, Becker S, Papadaki V, Limb GA, Moore AT, Kondo T, Ohnuma S.

Invest Ophthalmol Vis Sci. 2014 Nov 20;56(1):164-76. doi: 10.1167/iovs.14-15479.


Prominin-1/CD133 marks stem cells and early progenitors in mouse small intestine.

Snippert HJ, van Es JH, van den Born M, Begthel H, Stange DE, Barker N, Clevers H.

Gastroenterology. 2009 Jun;136(7):2187-2194.e1. doi: 10.1053/j.gastro.2009.03.002. Epub 2009 Mar 24.


Prominin-1 (CD133) defines both stem and non-stem cell populations in CNS development and gliomas.

Holmberg Olausson K, Maire CL, Haidar S, Ling J, Learner E, Nistér M, Ligon KL.

PLoS One. 2014 Sep 3;9(9):e106694. doi: 10.1371/journal.pone.0106694. eCollection 2014.


Prominin-1 allows prospective isolation of neural stem cells from the adult murine hippocampus.

Walker TL, Wierick A, Sykes AM, Waldau B, Corbeil D, Carmeliet P, Kempermann G.

J Neurosci. 2013 Feb 13;33(7):3010-24. doi: 10.1523/JNEUROSCI.3363-12.2013.


Prominin 1 marks intestinal stem cells that are susceptible to neoplastic transformation.

Zhu L, Gibson P, Currle DS, Tong Y, Richardson RJ, Bayazitov IT, Poppleton H, Zakharenko S, Ellison DW, Gilbertson RJ.

Nature. 2009 Jan 29;457(7229):603-7. doi: 10.1038/nature07589. Epub 2008 Dec 17.


Prominin 1/CD133 endothelium sustains growth of proneural glioma.

Ding BS, James D, Iyer R, Falciatori I, Hambardzumyan D, Wang S, Butler JM, Rabbany SY, Hormigo A.

PLoS One. 2013 Apr 25;8(4):e62150. doi: 10.1371/journal.pone.0062150. Print 2013.


High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Gamundi MJ, Hernan I, Muntanyola M, Trujillo MJ, García-Sandoval B, Ayuso C, Baiget M, Carballo M.

Mol Vis. 2007 Jun 28;13:1031-7.


Expression of a single prominin homolog in the embryo of the model chordate Ciona intestinalis.

Russo MT, Racioppi C, Zanetti L, Ristoratore F.

Gene Expr Patterns. 2014 May;15(1):38-45. doi: 10.1016/j.gep.2014.04.001. Epub 2014 Apr 19.


Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.

Zhang X, Ge X, Shi W, Huang P, Min Q, Li M, Yu X, Wu Y, Zhao G, Tong Y, Jin ZB, Qu J, Gu F.

PLoS One. 2014 Apr 24;9(4):e95528. doi: 10.1371/journal.pone.0095528. eCollection 2014.


CRTC2 and PROM1 expression in non-small cell lung cancer: analysis by Western blot and immunohistochemistry.

Li Y, He Y, Qiu Z, Zhou B, Shi S, Zhang K, Luo Y, Huang Q, Li W.

Tumour Biol. 2014 Dec;35(12):11719-26. doi: 10.1007/s13277-014-2011-0. Epub 2014 Sep 26.


Comparative genomics on PROM1 gene encoding stem cell marker CD133.

Katoh Y, Katoh M.

Int J Mol Med. 2007 Jun;19(6):967-70.


Fifty years later: the disk goes to the prom.

Kleinman ME, Ambati J.

J Clin Invest. 2008 Aug;118(8):2681-4. doi: 10.1172/JCI36515.


Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients.

He Y, Li Y, Qiu Z, Zhou B, Shi S, Zhang K, Luo Y, Huang Q, Li W.

Mol Cancer. 2014 Jan 31;13:19. doi: 10.1186/1476-4598-13-19.


Stem cell marker prominin-1 regulates branching morphogenesis, but not regenerative capacity, in the mammary gland.

Anderson LH, Boulanger CA, Smith GH, Carmeliet P, Watson CJ.

Dev Dyn. 2011 Mar;240(3):674-81. doi: 10.1002/dvdy.22539. Epub 2011 Jan 11.


The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP.

Invest Ophthalmol Vis Sci. 2004 Jan;45(1):30-5.

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