Concepedia

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

S. Amer Riazuddin, D. S. Parker, Elyse J. McGlumphy, Edwin C. Oh, Benjamin W. Iliff, Thore Schmedt, Ula V. Jurkunas, Robert Schleif, Nicholas Katsanis, John D. Gottsch

The American Journal of Human Genetics · 2012 · 169 citations · 25 references

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25

Twilight zone of protein sequence alignments

Burkhard Rost · Protein Engineering Design and Selection · 1999 · 1.9K citations

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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Susmito Biswas · Human Molecular Genetics · 2001 · 397 citations · Full text

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Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation

Hui Xiong, Danling Wang, Linan Chen et al. · Journal of Clinical Investigation · 2009 · 388 citations · Full text

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Corneal Endothelial Dystrophy

Jay H. Krachmer · Archives of Ophthalmology · 1978 · 385 citations

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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Eranga N. Vithana, Patricio E. Morgan, Periasamy Sundaresan et al. · Nature Genetics · 2006 · 296 citations

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