Zobrazeno 1 - 10
of 10
pro vyhledávání: '"M. H. Ricketts"'
Publikováno v:
Human mutation. 12(4)
Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85a177462990347eeed0449b988d4090
https://pubmed.ncbi.nlm.nih.gov/9744473
https://pubmed.ncbi.nlm.nih.gov/9744473
Publikováno v:
American journal of medical genetics. 67(4)
Pseudodeficiency of arylsulfatase A is characterized by reduction of arylsulfatase A activity without neurodegeneration, making it an important complication when diagnosing metachromatic leukodystrophy. Two DNA substitutions are associated with aryls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0efa60ca489e99965deb7afa80c5653
https://pubmed.ncbi.nlm.nih.gov/8837707
https://pubmed.ncbi.nlm.nih.gov/8837707
Publikováno v:
Nucleic acids research. 21(15)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9032a798220f190ad812e0e264c2bea
https://pubmed.ncbi.nlm.nih.gov/8393993
https://pubmed.ncbi.nlm.nih.gov/8393993
Autor:
M H, Ricketts
Publikováno v:
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 77(7)
Accumulating evidence strongly suggests that cancer is a genetic disease, arising from mutations in DNA. These mutations alter the function or synthesis of two groups of proteins, which are the products of either proto-oncogenes or anti-oncogenes. Of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a067314626725cf82f451d9b77619f2
https://pubmed.ncbi.nlm.nih.gov/2181703
https://pubmed.ncbi.nlm.nih.gov/2181703
Autor:
M H, Ricketts, S, Vandenplas
Publikováno v:
Journal of the South African Veterinary Association. 61(1)
DNA isolated from blood samples of Afrikander cattle (n = 66) were screened by blot-hybridisation analysis to determine the frequency of carriers of the goitre mutation. No carriers were found, suggesting that the frequency of the goitre mutation is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1a4242f3e1eceda4bf78848abe26e61b
https://pubmed.ncbi.nlm.nih.gov/2269992
https://pubmed.ncbi.nlm.nih.gov/2269992
Autor:
M. H. Ricketts, H. Meinhold, A. van Zyl, K. Schulz, P. P. van Jaarsveld, Andre J. Bester, C. D. Boyd
Publikováno v:
Journal of Heredity. 76:12-16
Congenital goiter was reported in a number of herds of Afrikander cattle in the 1950's. Some affected animals were assembled and maintained as a closed herd. Although considerable biochemical research into the nature of the disease has been conducted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f45bb058a2f9aff3f740edd1680f51c2
https://doi.org/10.1093/oxfordjournals.jhered.a110008
https://doi.org/10.1093/oxfordjournals.jhered.a110008
Autor:
M H, Ricketts, A D, Levinson
Publikováno v:
Molecular and Cellular Biology. 8:1460-1468
Rat-1 cells were transfected with plasmids encoding normal (Gly-12), nonactivated (Pro-12), and activated (Val-12 and Ile-12) p21H-ras in the presence of an amplifiable dihydrofolate reductase marker. The introduced DNA was amplified by selection in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d5766487a40d97cf6dffdbf695d5af2
https://doi.org/10.1128/mcb.8.4.1460-1468.1988
https://doi.org/10.1128/mcb.8.4.1460-1468.1988
Autor:
A D Levinson, M H Ricketts
Publikováno v:
Molecular and Cellular Biology. 8:1460-1468
Rat-1 cells were transfected with plasmids encoding normal (Gly-12), nonactivated (Pro-12), and activated (Val-12 and Ile-12) p21H-ras in the presence of an amplifiable dihydrofolate reductase marker. The introduced DNA was amplified by selection in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e499dd17ebe0256f5871eca92cd20e31
https://doi.org/10.1128/mcb.8.4.1460
https://doi.org/10.1128/mcb.8.4.1460
Publikováno v:
Proceedings of the National Academy of Sciences. 84:3181-3184
The hereditary goitre of Afrikander cattle is an autosomal recessive disease characterized in homozygotes by the production of abnormal thyroglobulin (Tg) and the coexistence in the thyroid of normal-sized 8.4-kilobase (kb) Tg mRNA with a misspliced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7426d52ab2f2b50bf4c0b2c07b8d38
https://doi.org/10.1073/pnas.84.10.3181
https://doi.org/10.1073/pnas.84.10.3181
Autor:
M. H. Ricketts, C. D. Boyd, P. P. Van Jaarsveld, Andre J. Bester, Viviane Pohl, Gilbert Vassart, G. de Martynoff
Publikováno v:
The EMBO journal. 4(3)
The structure of thyroglobulin mRNA was analyzed in an inbred herd of Afrikander cattle with hereditary goitre. Northern transfer of RNA from affected animals revealed both a shorter (approximately 7100 bases) and a normal-sized (approximately 8200 b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd840ac6f5e65cbcfc1c949e77623cc5
https://pubmed.ncbi.nlm.nih.gov/2988933
https://pubmed.ncbi.nlm.nih.gov/2988933