Zobrazeno 1 - 10
of 37
pro vyhledávání: '"R R, McInnes"'
Localization of histidase to human chromosome region 12q22→q24.1 and mouse chromosome region 10C2→D1
Autor:
David H. Ledbetter, J. Garcia-Heras, R. R. Mcinnes, R. G. Taylor, S. J. Sadler, H. F. Willard, R. G. Lafreniere
Publikováno v:
Cytogenetic and Genome Research. 56:178-181
The human gene for histidase (histidine ammonialyase; HAL), the enzyme deficient in histidinemia, was assigned to human chromosome 12 by Southern blot analysis of human × mouse somatic cell hybrid DNA. The gene was sublocalized to region 12q22→q24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb9c96bfb5398956f8bf1841f335650d
https://doi.org/10.1159/000133082
https://doi.org/10.1159/000133082
Publikováno v:
Clinical genetics. 57(5)
To date, 118 loci have been associated with photoreceptor degenerative disease. In this review, we will discuss recent advances in the identification of genes that cause progressive photoreceptor cell death when mutated. We will focus on 12 genes iso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::907ac53b21943d6d8a2b0ee89a39be8f
https://pubmed.ncbi.nlm.nih.gov/10852366
https://pubmed.ncbi.nlm.nih.gov/10852366
Autor:
S G, Jacobson, A V, Cideciyan, Y, Huang, D B, Hanna, C L, Freund, L M, Affatigato, R E, Carr, D J, Zack, E M, Stone, R R, McInnes
Publikováno v:
Investigative ophthalmologyvisual science. 39(12)
To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor.Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4624fe4c77c78c0068cc7aa37bb90895
https://pubmed.ncbi.nlm.nih.gov/9804150
https://pubmed.ncbi.nlm.nih.gov/9804150
Publikováno v:
Investigative ophthalmologyvisual science. 38(7)
To study the expression patterns of the homeobox genes Pax-6, Prox 1, and Chx10 during chick retinal development in vivo and in vitro.Sections of paraformaldehyde-fixed, paraffin-embedded eyes were obtained at a range of developmental stages. In situ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c118f130eca23a42bd3878bc1d02b05
https://pubmed.ncbi.nlm.nih.gov/9191592
https://pubmed.ncbi.nlm.nih.gov/9191592
Publikováno v:
The Journal of biological chemistry. 272(10)
To determine the molecular and biochemical basis of intragenic complementation observed at the human argininosuccinate lyase (ASL) locus, we identified the ASL alleles in ASL-deficient cell strains with two unique complementation phenotypes: (i) freq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f406002e0a1b60465417ef8d23bee199
https://pubmed.ncbi.nlm.nih.gov/9045711
https://pubmed.ncbi.nlm.nih.gov/9045711
Autor:
R G, Taylor, R R, McInnes
Publikováno v:
The Journal of biological chemistry. 269(44)
We have identified serine 254 as an essential residue in rat histidase (histidine ammonia-lyase, EC 4.3.1.3). Histidase and phenylalanine ammonia-lyase are the only two enzymes that have been postulated to require the modified amino acid, dehydroalan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f0bbb12e946abef6ea782583b19693a
https://pubmed.ncbi.nlm.nih.gov/7961661
https://pubmed.ncbi.nlm.nih.gov/7961661
Autor:
R A, Bascom, J, García-Heras, C L, Hsieh, D S, Gerhard, C, Jones, U, Francke, H F, Willard, D H, Ledbetter, R R, McInnes
Publikováno v:
American journal of human genetics. 51(5)
Rom-1 is a retinal integral membrane protein that, together with the product of the human retinal degeneration slow gene (RDS), defines a photoreceptor-specific protein family. The gene for rom-1 (HGM symbol: ROM1) has been assigned to human chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5ceb3e0b88d14c2d9eed9e3e13a49f34
https://pubmed.ncbi.nlm.nih.gov/1415249
https://pubmed.ncbi.nlm.nih.gov/1415249
Autor:
R R, McInnes
Publikováno v:
Seminars in perinatology. 15(1 Suppl 1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b0ff2048b436eee7c94c7de1d0b8806c
https://pubmed.ncbi.nlm.nih.gov/2052945
https://pubmed.ncbi.nlm.nih.gov/2052945
Publikováno v:
Molecular biologymedicine. 8(1)
Histidase (histidine ammonia-lyase, EC 4.3.1.3) catalyzes the deamination of L-histidine to trans-urocanic acid in the liver and skin of mammals. Histidase deficiency results in increased histidine and histamine in blood, and decreased urocanic acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f9359e5b82e52c2045ba5dab539f2904
https://pubmed.ncbi.nlm.nih.gov/1943682
https://pubmed.ncbi.nlm.nih.gov/1943682
Publikováno v:
The Journal of biological chemistry. 265(30)
Histidase (histidine ammonia-lyase, EC 4.3.1.3) catalyzes the deamination of histidine to urocanic acid. Apart from phenylalanine ammonia-lyase, which is not expressed in animals, histidase is the only enzyme known to have a dehydroalanine residue in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d47130f6c8b50e544662047b2961d0bc
https://pubmed.ncbi.nlm.nih.gov/2120224
https://pubmed.ncbi.nlm.nih.gov/2120224