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Items: 1 to 20 of 128

1.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D.

Nat Genet. 2000 Nov;26(3):270-1.

PMID:
11062461
2.

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

Brea-Fernández AJ, Pomares E, Brión MJ, Marfany G, Blanco MJ, Sánchez-Salorio M, González-Duarte R, Carracedo A.

Br J Ophthalmol. 2008 Oct;92(10):1419-23. doi: 10.1136/bjo.2008.139204.

PMID:
18815424
3.

Ectopic synaptogenesis during retinal degeneration in the royal college of surgeons rat.

Peng YW, Senda T, Hao Y, Matsuno K, Wong F.

Neuroscience. 2003;119(3):813-20.

PMID:
12809702
4.

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA.

Invest Ophthalmol Vis Sci. 2004 May;45(5):1456-63.

PMID:
15111602
5.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.

Mol Vis. 2010 Mar 9;16:369-77.

6.

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

Tschernutter M, Jenkins SA, Waseem NH, Saihan Z, Holder GE, Bird AC, Bhattacharya SS, Ali RR, Webster AR.

Br J Ophthalmol. 2006 Jun;90(6):718-23.

7.

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat.

D'Cruz PM, Yasumura D, Weir J, Matthes MT, Abderrahim H, LaVail MM, Vollrath D.

Hum Mol Genet. 2000 Mar 1;9(4):645-51.

8.

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PMID:
17301963
9.

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.

Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53. doi: 10.5301/ejo.5000096.

10.

Long-term preservation of retinal function in the RCS rat model of retinitis pigmentosa following lentivirus-mediated gene therapy.

Tschernutter M, Schlichtenbrede FC, Howe S, Balaggan KS, Munro PM, Bainbridge JW, Thrasher AJ, Smith AJ, Ali RR.

Gene Ther. 2005 Apr;12(8):694-701.

PMID:
15660111
11.

Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk.

Vollrath D, Feng W, Duncan JL, Yasumura D, D'Cruz PM, Chappelow A, Matthes MT, Kay MA, LaVail MM.

Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12584-9.

12.

Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells.

Feng W, Yasumura D, Matthes MT, LaVail MM, Vollrath D.

J Biol Chem. 2002 May 10;277(19):17016-22.

13.

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.

Parinot C, Nandrot EF.

Adv Exp Med Biol. 2016;854:259-65. doi: 10.1007/978-3-319-17121-0_35. Review.

PMID:
26427420
14.

Outer segment phagocytosis by cultured retinal pigment epithelial cells requires Gas6.

Hall MO, Prieto AL, Obin MS, Abrams TA, Burgess BL, Heeb MJ, Agnew BJ.

Exp Eye Res. 2001 Oct;73(4):509-20.

PMID:
11825022
15.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

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.

Nat Genet. 1999 Oct;23(2):217-21.

PMID:
10508521
16.
17.

Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.

Tada A, Wada Y, Sato H, Itabashi T, Kawamura M, Tamai M, Nishida K.

Mol Vis. 2006 May 9;12:441-4.

18.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A.

Am J Hum Genet. 2002 Jan;70(1):224-9.

19.

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.

Nat Genet. 1993 Mar;3(3):213-8.

PMID:
8485576
20.

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

McLaughlin ME, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1993 Jun;4(2):130-4.

PMID:
8394174
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