Zobrazeno 1 - 10
of 31
pro vyhledávání: '"V C, Sheffield"'
Publikováno v:
Journal of Clinical Investigation. 90:1679-1686
We studied metabolic, polypeptide and genetic variation in eight glutaric acidemia type II (GA II) patients with electron transfer flavoprotein (ETF) deficiency. As measured by 3H-fatty acid oxidations in fibroblasts, beta-oxidation pathway flux corr
Publikováno v:
Investigative ophthalmologyvisual science. 42(13)
To characterize the glucocorticoid responsiveness of the glaucoma gene MYOC (myocilin/TIGR) in cultured human trabecular meshwork (TM) cells.MYOC expression in two independently derived human TM cell lines was quantified by Western immunoblot analysi
Autor:
A F, Clark, H T, Steely, J E, Dickerson, S, English-Wright, K, Stropki, M D, McCartney, N, Jacobson, A R, Shepard, J I, Clark, H, Matsushima, E R, Peskind, J B, Leverenz, C W, Wilkinson, R E, Swiderski, J H, Fingert, V C, Sheffield, E M, Stone
Publikováno v:
Investigative ophthalmologyvisual science. 42(8)
To examine the intracellular and extracellular expression of myocilin in the human and primate trabecular meshwork (TM) in the presence and absence of glucocorticoids.Myocilin expression was examined in cultured human TM cells by Northern blot analys
Autor:
A R, Webster, E, Héon, A J, Lotery, K, Vandenburgh, T L, Casavant, K T, Oh, G, Beck, G A, Fishman, B L, Lam, A, Levin, J R, Heckenlively, S G, Jacobson, R G, Weleber, V C, Sheffield, E M, Stone
Publikováno v:
Investigative ophthalmologyvisual science. 42(6)
To assess the allelic variation of the ATP-binding transporter protein (ABCA4).A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to systematically screen this gene for sequence variations in 374 unr
Autor:
W H, Wang, L G, McNatt, A R, Shepard, N, Jacobson, D Y, Nishimura, E M, Stone, V C, Sheffield, A F, Clark
Publikováno v:
Molecular vision. 7
To develop methods for obtaining high quality RNA from human donor eyes and to determine the expression profile of the congenital glaucoma gene FOXC1 in human ocular tissues.To obtain high quality RNA from donor eyes, several different preservation m
Autor:
J H, Fingert, A F, Clark, J E, Craig, W L, Alward, G R, Snibson, M, McLaughlin, L, Tuttle, D A, Mackey, V C, Sheffield, E M, Stone
Publikováno v:
Investigative ophthalmologyvisual science. 42(1)
Glucocorticoid-induced ocular hypertension (the steroid response) may result in optic nerve damage that very closely mimics the pathologic course of primary open angle glaucoma (POAG). In addition, patients with glaucoma and their relatives are much
Publikováno v:
Investigative ophthalmologyvisual science. 41(11)
To evaluate MYOC (myocilin) gene expression at the RNA level in normal intact human eyes and optic nerve using in situ hybridization.Normal human eyes and optic nerves from donors 62 to 83 years of age with no history of glaucoma were fixed, embedded
Autor:
D A, Scott, V C, Sheffield
Publikováno v:
Advances in oto-rhino-laryngology. 56
Autor:
A J, Lotery, F L, Munier, G A, Fishman, R G, Weleber, S G, Jacobson, L M, Affatigato, B E, Nichols, D F, Schorderet, V C, Sheffield, E M, Stone
Publikováno v:
Investigative ophthalmologyvisual science. 41(6)
To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD).Three hundred twenty-one AMD patients, 192 ethnically similar control subjects, 39 unrelated probands with familial Best disease
Publikováno v:
American journal of medical genetics. 90(2)
Nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus. We searched for the location of the gene responsible for an autosoma