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

By A. Gal, Yun Li, Debra A. Thompson, Jessica Weir, U. Orth, S. Jacobson, E. Apfelstedt‐Sylla, D. Vollrath. Nature Genetics, 2000

698 citations recorded by the source corpus.

Subfields: Immunology, Molecular Biology, Ophthalmology

View Paper: https://www.semanticscholar.org/paper/2d16c5948dac9541e56bf982d8e13161d5c83538

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Citations in the corpus

• The retinal pigment epithelium in visual function. (2005, background): “Inability of the RPE to phagocytose POS causes an autosomal recessive form of retinitis pigmentosa (148, 154, 187, 413, 420, 600, 616, 622).”
• Leber congenital amaurosis: genes, proteins and disease mechanisms. (2008, background): “Nearly all MERTK mutations identified in patients with early onset retinal dystrophy represent loss-of-function alleles that are predicted to result in truncated MERTK protein lacking the intracellular tyrosine kinase domain (Gal et al., 2000; McHenry et al., 2004; Tschernutter et al., 2006).”