Výsledky vyhledávání - "R. G. Weleber"

A deletion in the ornithine aminotransferase gene in gyrate atrophy

Autor: N. G. Kennaway, R. G. Weleber, George Inana, Yukihiko Mashima, Y Akaki, Akira Murakami, Yoshihiro Hotta

Publikováno v: Journal of Biological Chemistry. 267:12950-12954

Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9996ac078987f888f4f3f32aeb07bee
https://doi.org/10.1016/s0021-9258(18)42366-6

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An analysis of allelic variation in the ABCA4 gene

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a8aa4d27da7c2460609ea06913e20233
https://pubmed.ncbi.nlm.nih.gov/11328725

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HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model

Autor: A, Kobayashi, T, Higashide, D, Hamasaki, S, Kubota, H, Sakuma, W, An, T, Fujimaki, M J, McLaren, R G, Weleber, G, Inana

Publikováno v: Investigative ophthalmologyvisual science. 41(11)

To investigate the function and pathogenicity of HRG4, a photoreceptor synaptic protein homologous to the Caenorhabditis elegans neuroprotein UNC119.HRG4 was screened for mutations in patients with various retinopathies, and a transgenic mouse model

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::285d3aad27ae5210ee1243eb4eeaa8c4
https://pubmed.ncbi.nlm.nih.gov/11006213

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Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35fa62676e0f490796e068216e618460
https://pubmed.ncbi.nlm.nih.gov/10798642

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A new locus for autosomal dominant congenital cataracts maps to chromosome 3

Autor: P L, Kramer, D, LaMorticella, K, Schilling, A M, Billingslea, R G, Weleber, M, Litt

Publikováno v: Investigative ophthalmologyvisual science. 41(1)

To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region.A large family with autosomal dominant congenital nuclear and sutural cataracts was identified and characterized

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ccfa785c78ca6a44df44db3afe78de29
https://pubmed.ncbi.nlm.nih.gov/10634598

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Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Autor: K T, Hiriyanna, E L, Bingham, B M, Yashar, R, Ayyagari, G, Fishman, K W, Small, D V, Weinberg, R G, Weleber, R A, Lewis, S, Andreasson, J E, Richards, P A, Sieving

Publikováno v: Human mutation. 14(5)

Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families (Retinoschisis C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a948d199252b99cfe1fd2ad88d76dbf
https://pubmed.ncbi.nlm.nih.gov/10533068

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Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations

Autor: Y Q, Gao, M, Danciger, R, Longmuir, N I, Piriev, D Y, Zhao, J R, Heckenlively, G A, Fishman, R G, Weleber, S G, Jacobson, E M, Stone, D B, Farber

Publikováno v: Investigative ophthalmologyvisual science. 40(8)

To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMPphosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79b998ccc7a6509a7e7b9bcee41b6661
https://pubmed.ncbi.nlm.nih.gov/10393054

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Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome

Autor: L O, Atchaneeyasakul, L M, Linck, W E, Connor, R G, Weleber, R D, Steiner

Publikováno v: American journal of medical genetics. 80(5)

We evaluate the ophthalmologic findings in 8 children with RSH/Smith-Lemli-Opitz syndrome (SLOS) and document abnormal concentrations of cholesterol and cholesterol precursors in the ocular tissues in a case of SLOS. The most common ophthalmologic fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::951ebe7eeaa6c648d4808fd65bd90cd6
https://pubmed.ncbi.nlm.nih.gov/9880216

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Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease

Autor: Y Q, Gao, M, Danciger, N B, Akhmedov, D Y, Zhao, J R, Heckenlively, G A, Fishman, R G, Weleber, S G, Jacobson, D B, Farber

Publikováno v: Molecular vision. 4

To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f527b4a0ce421dd1430669b30a295ad7
https://pubmed.ncbi.nlm.nih.gov/9743540

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Sperm abnormalities in retinitis pigmentosa

Autor: W E, Connor, R G, Weleber, C, DeFrancesco, D S, Lin, D P, Wolf

Publikováno v: Investigative ophthalmologyvisual science. 38(12)

To determine the fatty acid composition of erythrocytes and sperm, along with the functional characteristics of sperm, in patients with retinitis pigmentosa. Sperm and retinal cells share important homologies. Both are rich in the highly polyunsatura

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::da7e9e404ebfdd69639f53be938a51bc
https://pubmed.ncbi.nlm.nih.gov/9375581

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