| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A T Hoogeveen, B A Oostr. The fragile X syndrome. Journal of inherited metabolic disease. vol 20. issue 2. 1997-09-09. PMID:9211186. |
the fragile x syndrome is caused by the amplification of a polymorphic cgg repeat in the 5' untranslated region of the fmr1 gene and is the most common form of inherited mental retardation. |
1997-09-09 |
2023-08-12 |
mouse |
| H Deissler, M Wilm, B Genç, B Schmitz, T Ternes, F Naumann, M Mann, W Doerfle. Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene. The Journal of biological chemistry. vol 272. issue 27. 1997-07-31. PMID:9201980. |
the autonomous expansion of the unstable 5'-d(cgg)n-3' repeat in the 5'-untranslated region of the human fmr1 gene leads to the fragile x syndrome, one of the most frequent causes of mental retardation in human males. |
1997-07-31 |
2023-08-12 |
human |
| S Schwemmle, E de Graaff, H Deissler, D Gläser, D Wöhrle, I Kennerknecht, W Just, B A Oostra, W Döerfler, W Vogel, P Steinbach, W Dörfle. Characterization of FMR1 promoter elements by in vivo-footprinting analysis. American journal of human genetics. vol 60. issue 6. 1997-07-10. PMID:9199556. |
fragile x syndrome is associated with silencing of the fmr1 gene. |
1997-07-10 |
2023-08-12 |
Not clear |
| W L Hwu, T R Wang, Y M Le. FMR1 enhancer is regulated by cAMP through a cAMP-responsive element. DNA and cell biology. vol 16. issue 4. 1997-06-09. PMID:9150432. |
fmr1 (fra x mental retardation 1), a gene of unknown function, is responsible for an important hereditary mental retardation, the fragile x syndrome. |
1997-06-09 |
2023-08-12 |
Not clear |
| W L Hwu, T R Wang, Y M Le. FMR1 enhancer is regulated by cAMP through a cAMP-responsive element. DNA and cell biology. vol 16. issue 4. 1997-06-09. PMID:9150432. |
the involvement of camp in the expression of fmr1 should be a clue to both the function of fmr1 and the pathogenesis of fragile x syndrome. |
1997-06-09 |
2023-08-12 |
Not clear |
| R S Hansen, T K Canfield, A D Fjeld, S Mumm, C D Laird, S M Gartle. A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 9. 1997-05-27. PMID:9114034. |
the centromere-proximal zone replicates very late in s, whereas the distal zone normally replicates somewhat earlier and contains fmr1, the gene responsible for fragile x syndrome when mutated. |
1997-05-27 |
2023-08-12 |
human |
| D E Eberhart, S T Warre. Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus. Somatic cell and molecular genetics. vol 22. issue 6. 1997-05-20. PMID:9131013. |
fragile x syndrome is caused by the expansion and concomitant methylation of a cgg repeat in the 5' untranslated region of the fmr1 gene which results in the transcriptional silencing of the fmr1 gene, delayed replication of the fmr1 locus, and the formation of a folate sensitive fragile site (fraxa) at xq27.3. |
1997-05-20 |
2023-08-12 |
Not clear |
| D E Eberhart, S T Warre. Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus. Somatic cell and molecular genetics. vol 22. issue 6. 1997-05-20. PMID:9131013. |
the fmr1 gene was inaccessible to mspi digestion in fragile x patients, but not in normal or carrier individuals, confirming that altered chromatin conformation results from the repeat expansion and methylation seen in fragile x syndrome. |
1997-05-20 |
2023-08-12 |
Not clear |
| R J Hagerma. Fragile X syndrome. Molecular and clinical insights and treatment issues. The Western journal of medicine. vol 166. issue 2. 1997-05-09. PMID:9109330. |
the discovery of the fmr1 gene mutation in 1991 has simplified diagnosis, enhanced our understanding of the spectrum of involvement in the fragile x syndrome, and stimulated research regarding the normal function of the fmr1 protein in brain development. |
1997-05-09 |
2023-08-12 |
Not clear |
| R Willemsen, F Los, S Mohkamsing, A van den Ouweland, W Deelen, H Galjaard, B Oostr. Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal. Journal of medical genetics. vol 34. issue 3. 1997-04-30. PMID:9132500. |
fragile x syndrome is caused by mutations in the fmr1 gene and is one of the most frequent forms of inherited mental retardation in males. |
1997-04-30 |
2023-08-12 |
Not clear |
| R D'Hooge, G Nagels, F Franck, C E Bakker, E Reyniers, K Storm, R F Kooy, B A Oostra, P J Willems, P P De Dey. Mildly impaired water maze performance in male Fmr1 knockout mice. Neuroscience. vol 76. issue 2. 1997-04-29. PMID:9015322. |
fmr1 knockout mice constitute a putative model of fragile x syndrome, the most common form of heritable mental disability in humans. |
1997-04-29 |
2023-08-12 |
mouse |
| J E Morton, S Bundey, T P Webb, F MacDonald, P M Rindl, S Bulloc. Fragile X syndrome is less common than previously estimated. Journal of medical genetics. vol 34. issue 1. 1997-04-10. PMID:9032640. |
eighteen of the original 29 children have been found not to have the expansion of the fmr1 gene associated with fragile x syndrome. |
1997-04-10 |
2023-08-12 |
Not clear |
| B B de Vries, C C Jansen, A A Duits, C Verheij, R Willemsen, J O van Hemel, A M van den Ouweland, M F Niermeijer, B A Oostra, D J Halle. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. Journal of medical genetics. vol 33. issue 12. 1997-03-26. PMID:9004132. |
the fragile x syndrome is caused by an expanded cgg repeat (> 200 units, full mutation) at the 5' end of the fmr1 gene, which is associated with methylation of a cpg island upstream of the fmr1 gene and down regulation of the transcription. |
1997-03-26 |
2023-08-12 |
Not clear |
| Y Feng, C A Gutekunst, D E Eberhart, H Yi, S T Warren, S M Hersc. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 17. issue 5. 1997-03-26. PMID:9030614. |
fragile x syndrome, a leading cause of inherited mental retardation, is attributable to the unstable expansion of a cgg-repeat within the fmr1 gene that results in the absence of the encoded protein. |
1997-03-26 |
2023-08-12 |
mouse |
| H E Malter, J C Iber, R Willemsen, E de Graaff, J C Tarleton, J Leisti, S T Warren, B A Oostr. Characterization of the full fragile X syndrome mutation in fetal gametes. Nature genetics. vol 15. issue 2. 1997-03-10. PMID:9020841. |
fragile x syndrome results from the expansion of the cgg repeat in the fmr1 gene. |
1997-03-10 |
2023-08-12 |
Not clear |
| C L Kowalczyk, E Schroeder, V Pratt, J Conard, K Wright, G L Feldma. An association between precocious puberty and fragile X syndrome? Journal of pediatric and adolescent gynecology. vol 9. issue 4. 1997-02-28. PMID:8957775. |
to determine the fmr1 gene status in a 10-year, 10-month-old girl with a history of precocious puberty and a family history of fragile x syndrome. |
1997-02-28 |
2023-08-12 |
Not clear |
| M Milewski, M Zygulska, J Bal, W H Deelen, E Obersztyn, E Bocian, D J Halley, J Horst, T Mazurcza. Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome. Acta biochimica Polonica. vol 43. issue 2. 1997-01-27. PMID:8862184. |
analysis of unstable dna sequence in fmr1 gene in polish families with fragile x syndrome. |
1997-01-27 |
2023-08-12 |
Not clear |
| M Milewski, M Zygulska, J Bal, W H Deelen, E Obersztyn, E Bocian, D J Halley, J Horst, T Mazurcza. Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome. Acta biochimica Polonica. vol 43. issue 2. 1997-01-27. PMID:8862184. |
the unstable dna sequence in the fmr1 gene was analyzed in 85 individuals from polish families with fragile x syndrome in order to characterize mutations responsible for the disease in poland. |
1997-01-27 |
2023-08-12 |
Not clear |
| E E Eichler, J N Macpherson, A Murray, P A Jacobs, A Chakravarti, D L Nelso. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Human molecular genetics. vol 5. issue 3. 1997-01-13. PMID:8852655. |
haplotype and interspersion analysis of the fmr1 cgg repeat identifies two different mutational pathways for the origin of the fragile x syndrome. |
1997-01-13 |
2023-08-12 |
Not clear |
| E E Eichler, J N Macpherson, A Murray, P A Jacobs, A Chakravarti, D L Nelso. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Human molecular genetics. vol 5. issue 3. 1997-01-13. PMID:8852655. |
to understand the origins of the fragile x syndrome and factors predisposing alleles to instability and hyperexpansion, we have compared the haplotype (using markers fraxac1, fraxac2, and dxs548) and agg interspersion patterns of the fmr1 cgg repeat for 214 normal and 16 premutation chromosomes. |
1997-01-13 |
2023-08-12 |
Not clear |