The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
Abstract
Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.
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Cites
The Protein Kinase Family: Conserved Features and Deduced Phylogeny of the Catalytic Domains
Hanks, S. K., Quinn, A. M., & Hunter, T. (1988) · Science · doi:10.1126/science.3291115 · Cited by 5,039
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Self-citationAndrogen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Spada, A. R. L., Wilson, E. M., Lubahn, D. B., Harding, A. E., & Fischbeck, K. H. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,784
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Self-citationAbsence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Self-citationDNA typing and genetic mapping with trimeric and tetrameric tandem repeats.
Edwards, A., Civitello, A. B., Hammond, H. A., & Caskey, C. T. (1991) · Europe PMC (PubMed Central) · Cited by 1,147
Self-citationToda, T., Cameron, S., Sass, P., Zoller, M., & Wigler, M. (1987) · Cell · doi:10.1016/0092-8674(87)90223-6 · Cited by 693
Genomic imprinting: review and relevance to human diseases.
Hall, J. G. (1990) · Europe PMC (PubMed Central) · Cited by 619
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
Aslanidis, C., Jansen, G., Amemiya, C., Shutler, G., Mahadevan, M., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N. G. M., Vooijs, M., et al. (1992) · Nature · doi:10.1038/355548a0 · Cited by 498
Self-citationThe Metabolic Basis of Inherited Disease.
(1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-114-9-816_3 · Cited by 398
Cited by
Tandem repeats finder: a program to analyze DNA sequences
Benson, G. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.2.573 · Cited by 9,374
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632
Trinucleotide repeat length instability and age of onset in Huntington's disease
Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-387 · Cited by 1,089
A point mutation in the FMR-1 gene associated with fragile X mental retardation
De Boulle, K., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., Van Den Bos, F., de Graaff, E., Oostra, B. A., & Willems, P. J. (1993) · Nature Genetics · doi:10.1038/ng0193-31 · Cited by 624
Metadata
- Authors
- Fu, Y. H., Pizzuti, A., Fenwick, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Perryman, M. B., Epstein, H. F., & Caskey, C. T.
- Venue
- Science
- Published
- 1992-03-06
- Volume
- 255
- Issue
- 5049
- Pages
- 1256-1258
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1971507786
- Cited by
- 1,455
- References
- 16
- FWCI
- 36.27
- Type
- journal article
- Language
- en
- Open access
- closed
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- Fu, Y. H., Pizzuti, A., Fenwick, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Perryman, M. B., Epstein, H. F., & Caskey, C. T. (1992). An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy. Science. https://doi.org/10.1126/science.1546326
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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