BIOLOGÍA CELULAR Y PATOLOGÍA
Departamento
University of Michigan Medical School
Ann Arbor, Estados UnidosPublicaciones en colaboración con investigadores/as de University of Michigan Medical School (5)
2023
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Cochlear synaptopathy impairs suprathreshold tone-in-noise coding in the cochlear nucleus
Journal of Physiology, Vol. 601, Núm. 14, pp. 2991-3006
2006
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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Human Molecular Genetics, Vol. 15, Núm. 11, pp. 1847-1857
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Nature Genetics, Vol. 38, Núm. 6, pp. 674-681
2005
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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Nature Genetics, Vol. 37, Núm. 3, pp. 282-288
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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins
Journal of Biological Chemistry, Vol. 280, Núm. 39, pp. 33580-33587