Page last updated: 2024-10-16

adenine and Pigmentary Retinopathy

adenine has been researched along with Pigmentary Retinopathy in 6 studies

Research Excerpts

ExcerptRelevanceReference
"To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene."7.70Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. ( Fujii, S; Nakamachi, Y; Nakamura, M; Okubo, K; Yamamoto, M, 1998)
"To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene."3.70Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. ( Fujii, S; Nakamachi, Y; Nakamura, M; Okubo, K; Yamamoto, M, 1998)
"Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset."1.34Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. ( Aguirre-Lamban, J; Avila-Fernandez, A; Ayuso, C; Cantalapiedra, D; Lopez-Martinez, MA; Riveiro-Alvarez, R; Trujillo-Tiebas, MJ; Vallespin, E; Villaverde, C, 2007)

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (50.00)18.2507
2000's2 (33.33)29.6817
2010's1 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Athanasiou, D1
Aguila, M1
Bellingham, J1
Kanuga, N1
Adamson, P1
Cheetham, ME1
Yzer, S1
van den Born, LI1
Zonneveld, MN1
Lopez, I1
Ayyagari, R1
Teye-Botchway, L1
Mota-Vieira, L1
Cremers, FP1
Koenekoop, RK1
Vallespin, E1
Lopez-Martinez, MA1
Cantalapiedra, D1
Riveiro-Alvarez, R1
Aguirre-Lamban, J1
Avila-Fernandez, A1
Villaverde, C1
Trujillo-Tiebas, MJ1
Ayuso, C2
Nakamachi, Y1
Nakamura, M1
Fujii, S1
Yamamoto, M1
Okubo, K1
Smith, PR1
Bain, SC1
Good, PA1
Hattersley, AT1
Barnett, AH1
Gibson, JM1
Dodson, PM1
Trujillo, MJ1
Millán, JM1
Nájera, C1
Beneyto, M1
García-Sandoval, B1
Rodriguez de Alba, M1
Sanz, R1

Other Studies

6 other studies available for adenine and Pigmentary Retinopathy

ArticleYear
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.
    Human molecular genetics, 2017, 12-15, Volume: 26, Issue:24

    Topics: Adenine; Animals; Cell Line, Transformed; Cell Line, Tumor; Disease Models, Animal; eIF-2 Kinase; En

2017
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
    Molecular vision, 2007, Aug-31, Volume: 13

    Topics: Adenine; Adult; ATP-Binding Cassette Transporters; Cytosine; Female; Fundus Oculi; Genes, Recessive;

2007
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
    Molecular vision, 2007, Nov-27, Volume: 13

    Topics: Adenine; Age of Onset; Antigens, Neoplasm; Blindness; Cell Cycle Proteins; Cohort Studies; Cytoskele

2007
Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
    American journal of ophthalmology, 1998, Volume: 125, Issue:2

    Topics: Adenine; Arrestin; Electroretinography; Fundus Oculi; Gene Deletion; Humans; Male; Middle Aged; Nigh

1998
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Ophthalmology, 1999, Volume: 106, Issue:6

    Topics: Adenine; Adult; Aged; Aged, 80 and over; Deafness; Diabetes Mellitus, Type 2; DNA, Mitochondrial; El

1999
Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.
    Human mutation, 1998, Volume: 12, Issue:3

    Topics: Adenine; Cytosine; Guanine; Humans; Point Mutation; Retinitis Pigmentosa; Rhodopsin; Thymine

1998