| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| M C Siomi, Y Zhang, H Siomi, G Dreyfus. Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them. Molecular and cellular biology. vol 16. issue 7. 1996-08-08. PMID:8668200. |
the rna-binding activity of fmr1 is an essential feature of fmr1, as fragile x syndrome can also result from the expression of mutant fmr1 protein that is impaired in rna binding. |
1996-08-08 |
2023-08-12 |
Not clear |
| M C Siomi, Y Zhang, H Siomi, G Dreyfus. Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them. Molecular and cellular biology. vol 16. issue 7. 1996-08-08. PMID:8668200. |
the fxr proteins are associated with 60s ribosomal subunits even in cells that lack fmr1 and that are derived from a fragile x syndrome patient, indicating that fmr1 is not required for this association. |
1996-08-08 |
2023-08-12 |
Not clear |
| C B Kunst, C Zerylnick, L Karickhoff, E Eichler, J Bullard, M Chalifoux, J J Holden, A Torroni, D L Nelson, S T Warre. FMR1 in global populations. American journal of human genetics. vol 58. issue 3. 1996-07-16. PMID:8644711. |
fragile x syndrome, a frequent form of inherited mental retardation, results from the unstable expansion of a cryptic cgg repeat within the 5' utr region of the fmr1 gene. |
1996-07-16 |
2023-08-12 |
Not clear |
| H Deissler, A Behn-Krappa, W Doerfle. Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene. The Journal of biological chemistry. vol 271. issue 8. 1996-06-21. PMID:8626781. |
its expansion in the human fmr1 gene leads to the fragile x syndrome, one of the most frequent causes of mental retardation in human males. |
1996-06-21 |
2023-08-12 |
human |
| G Musco, G Stier, C Joseph, M A Castiglione Morelli, M Nilges, T J Gibson, A Pastor. Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome. Cell. vol 85. issue 2. 1996-06-05. PMID:8612276. |
the human fmr1 protein, which has two kh domains, is associated with fragile x syndrome, the most common inherited cause of mental retardation. |
1996-06-05 |
2023-08-12 |
human |
| H J Smeets, A P Smits, C E Verheij, J P Theelen, R Willemsen, I van de Burgt, A T Hoogeveen, J C Oosterwijk, B A Oostr. Normal phenotype in two brothers with a full FMR1 mutation. Human molecular genetics. vol 4. issue 11. 1996-03-27. PMID:8589687. |
the fragile x syndrome is associated with an expanding cgg repeat in the 5' untranslated region of the first exon of the fmr1 gene. |
1996-03-27 |
2023-08-12 |
Not clear |
| B B de Vries, H Robinson, I Stolte-Dijkstra, C V Tjon Pian Gi, P F Dijkstra, J van Doorn, D J Halley, B A Oostra, G Turner, M F Niermeije. General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation. Journal of medical genetics. vol 32. issue 10. 1996-02-28. PMID:8558551. |
general overgrowth in the fragile x syndrome: variability in the phenotypic expression of the fmr1 gene mutation. |
1996-02-28 |
2023-08-12 |
Not clear |
| E Reyniers, D R Van Bockstaele, K De Boulle, R F Kooy, C E Bakker, B A Oostra, P J Willem. Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice. Human genetics. vol 97. issue 1. 1996-02-23. PMID:8557260. |
as it is difficult to perform case-controlled studies in patients with fragile x syndrome, we studied mch in erythrocytes from transgenic mice with an fmr1 knockout. |
1996-02-23 |
2023-08-12 |
mouse |
| F Quan, M Grompe, P Jakobs, B W Popovic. Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Human molecular genetics. vol 4. issue 9. 1996-02-14. PMID:8541863. |
spontaneous deletion in the fmr1 gene in a patient with fragile x syndrome and cherubism. |
1996-02-14 |
2023-08-12 |
Not clear |
| B A Oostra, P J Willem. A fragile gene. BioEssays : news and reviews in molecular, cellular and developmental biology. vol 17. issue 11. 1996-01-25. PMID:8526888. |
an animal model for fragile x syndrome has been generated, which can be used to study the clinical and biochemical abnormalities caused by absence of fmr1 protein product. |
1996-01-25 |
2023-08-12 |
Not clear |
| Y Nadel, P Weisman-Shomer, M Fr. The fragile X syndrome single strand d(CGG)n nucleotide repeats readily fold back to form unimolecular hairpin structures. The Journal of biological chemistry. vol 270. issue 48. 1996-01-18. PMID:7499428. |
expansion of a d(cgg)n run within the 5'-untranslated region of the x-linked human gene fmr1 blocks fmr1 transcription, delays its replication, and precipitates the fragile x syndrome. |
1996-01-18 |
2023-08-12 |
human |
| A L Reiss, L S Freund, T L Baumgardner, M T Abrams, M B Denckl. Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nature genetics. vol 11. issue 3. 1995-12-08. PMID:7581460. |
for example, mutations affecting the fmr1 gene cause the fragile x syndrome, the most prevalent known inherited cause of intellectual dysfunction. |
1995-12-08 |
2023-08-12 |
human |
| K A Lugenbeel, A M Peier, N L Carson, A E Chudley, D L Nelso. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature genetics. vol 10. issue 4. 1995-10-18. PMID:7670500. |
intragenic loss of function mutations demonstrate the primary role of fmr1 in fragile x syndrome. |
1995-10-18 |
2023-08-12 |
Not clear |
| K A Lugenbeel, A M Peier, N L Carson, A E Chudley, D L Nelso. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature genetics. vol 10. issue 4. 1995-10-18. PMID:7670500. |
nearly all cases of fragile x syndrome result from expansion of a cgg trinucleotide repeat found in the 5' untranslated portion of the fmr1 gene. |
1995-10-18 |
2023-08-12 |
Not clear |
| K A Lugenbeel, A M Peier, N L Carson, A E Chudley, D L Nelso. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature genetics. vol 10. issue 4. 1995-10-18. PMID:7670500. |
methylation of the expanded repeats correlates with down-regulation of transcription of fmr1; thus fragile x syndrome is postulated to be due to a loss of function of the fmr1 gene product, and this has been demonstrated at the protein level. |
1995-10-18 |
2023-08-12 |
Not clear |
| K A Lugenbeel, A M Peier, N L Carson, A E Chudley, D L Nelso. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature genetics. vol 10. issue 4. 1995-10-18. PMID:7670500. |
we report here the identification of two different intragenic loss of function mutations in fmr1: a single de novo nucleotide deletion in a young male patient (ij) and an inherited two basepair change in an adult male (sd), each with classical features of fragile x syndrome. |
1995-10-18 |
2023-08-12 |
Not clear |
| E de Graaff, R Willemsen, N Zhong, C E de Die-Smulders, W T Brown, G Freling, B Oostr. Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. American journal of human genetics. vol 57. issue 3. 1995-10-12. PMID:7668289. |
the molecular mechanism of the fragile x syndrome is based on the expansion of an cgg repeat in the 5' utr of the fmr1 gene in the majority of fragile x patients. |
1995-10-12 |
2023-08-12 |
Not clear |
| E W Khandjian, A Fortin, A Thibodeau, S Tremblay, F Côté, D Devys, J L Mandel, F Roussea. A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture. Human molecular genetics. vol 4. issue 5. 1995-09-14. PMID:7633436. |
the fragile x syndrome is an x-linked inherited disease and is the result of transcriptional inactivation of the fmr1 gene and the absence of its encoded fmr protein (fmrp). |
1995-09-14 |
2023-08-12 |
mouse |
| C Verheij, E de Graaff, C E Bakker, R Willemsen, P J Willems, N Meijer, H Galjaard, A J Reuser, B A Oostra, A T Hoogevee. Characterization of FMR1 proteins isolated from different tissues. Human molecular genetics. vol 4. issue 5. 1995-09-14. PMID:7633450. |
the identity of these proteins was confirmed by their absence in tissues from patients with the fragile x syndrome and a fmr1 knock-out mouse. |
1995-09-14 |
2023-08-12 |
mouse |
| M Hergersberg, K Matsuo, M Gassmann, W Schaffner, B Lüscher, T Rülicke, A Aguzz. Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. Human molecular genetics. vol 4. issue 3. 1995-08-03. PMID:7795588. |
fragile x syndrome is one of the most common genetic causes of mental retardation, yet the mechanisms controlling expression of the fragile x mental retardation gene fmr1 are poorly understood. |
1995-08-03 |
2023-08-12 |
mouse |