| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| K Yamamoto, S Ikeda, N Hanyu, S Takeda, N Yanagisaw. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. Journal of medical genetics. vol 35. issue 1. 1998-03-26. PMID:9475090. |
in type i familial amyloid polyneuropathy (fap) caused by a variant met30-transthyretin (ttr), genetic anticipation has been reported. |
1998-03-26 |
2023-08-12 |
Not clear |
| A Quintas, M J Saraiva, R M Brit. The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution. FEBS letters. vol 418. issue 3. 1998-02-02. PMID:9428731. |
in certain forms of familial amyloidotic polyneuropathy (fap), the amyloid fibrils are mostly constituted by variants of transthyretin (ttr). |
1998-02-02 |
2023-08-12 |
Not clear |
| Y Ando, T Yamashita, M Nakamura, Y Tanaka, M Hashimoto, K Tashima, O Suhr, Y Uemura, K Obayashi, H Terazaki, M Suga, M Uchino, M And. Down regulation of a harmful variant protein by replacement of its normal protein. Biochimica et biophysica acta. vol 1362. issue 1. 1998-01-28. PMID:9434098. |
to compensate for the hypoprotein and hypoalbuminemia of familial amyloidotic polyneuropathy (fap) patients, 800 ml of fresh frozen plasma (ffp) was intravenously administered and change in total and variant transthyretin (ttr) levels were measured in the plasma. |
1998-01-28 |
2023-08-12 |
mouse |
| J W Kelly, W Colon, Z Lai, H A Lashuel, J McCulloch, S L McCutchen, G J Miroy, S A Peterso. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Advances in protein chemistry. vol 50. 1997-12-01. PMID:9338081. |
the single site mutations that are associated with early onset amyloid disease [familial amyloid polyneuropathy (fap)] function by destabilizing tetrameric ttr. |
1997-12-01 |
2023-08-12 |
human |
| M Alves, I Conceição, M L Lui. Neurophysiological evaluation of sexual dysfunction in familial amyloidotic polyneuropathy--Portuguese type. Acta neurologica Scandinavica. vol 96. issue 3. 1997-10-23. PMID:9300069. |
familial amyloidotic polyneuropathy (fap)--portuguese type, is an autosomal dominant polyneuropathy related with an abnormal transthyrretin (ttr met 30). |
1997-10-23 |
2023-08-12 |
Not clear |
| Y Date, M Nakazato, K Kangawa, K Shirieda, T Fujimoto, S Matsukur. Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues. Journal of the neurological sciences. vol 150. issue 2. 1997-10-06. PMID:9268242. |
we identified three different missense mutations of the transthyretin (ttr) gene in three japanese patients with familial amyloidotic polyneuropathy by analysis of their dnas extracted from formalin-fixed and paraffin-embedded tissues. |
1997-10-06 |
2023-08-12 |
Not clear |
| K Kohno, J A Palha, K Miyakawa, M J Saraiva, S Ito, T Mabuchi, W S Blaner, H Iijima, S Tsukahara, V Episkopou, M E Gottesman, K Shimada, K Takahashi, K Yamamura, S Maed. Analysis of amyloid deposition in a transgenic mouse model of homozygous familial amyloidotic polyneuropathy. The American journal of pathology. vol 150. issue 4. 1997-04-29. PMID:9095004. |
amyloid fibrils derived from the japanese, portuguese, and swedish types of familial amyloidotic polyneuropathy all consist of a variant transthyretin (ttr) with a substitution of methionine for valine at position 30 (ttr met 30). |
1997-04-29 |
2023-08-12 |
mouse |
| K Kohno, J A Palha, K Miyakawa, M J Saraiva, S Ito, T Mabuchi, W S Blaner, H Iijima, S Tsukahara, V Episkopou, M E Gottesman, K Shimada, K Takahashi, K Yamamura, S Maed. Analysis of amyloid deposition in a transgenic mouse model of homozygous familial amyloidotic polyneuropathy. The American journal of pathology. vol 150. issue 4. 1997-04-29. PMID:9095004. |
in an attempt to establish an animal model of ttr met-30-associated homozygous familial amyloidotic polyneuropathy and to study the structural and functional properties of human ttr met 30, we generated a mouse line carrying a null mutation at the endogenous ttr locus (ttr-/-) and the human mutant ttr gene (6.0-hmet 30) as a transgene. |
1997-04-29 |
2023-08-12 |
mouse |
| M J Saraiva, M R Almeida, I L Alves, M J Bonifácio, A M Damas, J A Palha, G Goldsteins, E Lundgre. Modulating conformational factors in transthyretin amyloid. Ciba Foundation symposium. vol 199. 1997-02-11. PMID:8915603. |
we have analysed the structure, binding properties, stability and amyloidogenicity of particular transthyretin (ttr) mutations-ttr met30 and ttr pro55, both associated with familial amyloid polyneuropathy, and ttr met119, a non-pathogenic ttr mutation with apparent protective effects on the amyloidogenicity of the met30 mutation. |
1997-02-11 |
2023-08-12 |
Not clear |
| W Colon, Z Lai, S L McCutchen, G J Miroy, C Strang, J W Kell. FAP mutations destabilize transthyretin facilitating conformational changes required for amyloid formation. Ciba Foundation symposium. vol 199. 1997-02-11. PMID:8915613. |
mutations that are associated with early onset-amyloid disease (familial amyloidotic polyneuropathy; fap) function by destabilizing tetrameric ttr in favour of the monomeric amyloidogenic intermediate which has a rearranged c-strand-loop d-strand region. |
1997-02-11 |
2023-08-12 |
Not clear |
| G J Miroy, Z Lai, H A Lashuel, S A Peterson, C Strang, J W Kell. Inhibiting transthyretin amyloid fibril formation via protein stabilization. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 26. 1997-01-28. PMID:8986762. |
transthyretin (ttr) amyloid fibril formation is observed systemically in familial amyloid polyneuropathy and senile systemic amyloidosis and appears to be the causative agent in these diseases. |
1997-01-28 |
2023-08-12 |
human |
| G J Miroy, Z Lai, H A Lashuel, S A Peterson, C Strang, J W Kell. Inhibiting transthyretin amyloid fibril formation via protein stabilization. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 26. 1997-01-28. PMID:8986762. |
this strategy and the compounds resulting from further development should prove useful for critically evaluating the amyloid hypothesis--i.e., the putative cause-and-effect relationship between ttr amyloid deposition and the onset of familial amyloid polyneuropathy and senile systemic amyloidosis. |
1997-01-28 |
2023-08-12 |
human |
| 3rd International Symposium on Familial Amyloidotic Polyneuropathy and other TTR Related Disorders. 2nd International Workshop on Liver Transplantation in FAP. Lisbon, Portugal, October 27-29, 1995. Abstracts. Neuromuscular disorders : NMD. vol 6 Suppl 1. 1996-12-20. PMID:8900448. |
3rd international symposium on familial amyloidotic polyneuropathy and other ttr related disorders. |
1996-12-20 |
2023-08-12 |
Not clear |
| P Montagna, L Marchello, R Plasmati, A Ferlini, M C Patrosso, F Salv. Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). Electroencephalography and clinical neurophysiology. vol 101. issue 5. 1996-12-20. PMID:8913196. |
electromyographic findings in transthyretin (ttr)-related familial amyloid polyneuropathy (fap). |
1996-12-20 |
2023-08-12 |
Not clear |
| S Refetoff, V S Marinov, H Tunca, M M Byrne, T Sunthornthepvarakul, R E Weis. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. The Journal of clinical endocrinology and metabolism. vol 81. issue 9. 1996-10-16. PMID:8784093. |
missense mutations of the ttr gene produce familial amyloidotic polyneuropathy and rarely, euthyroid hyperthyroxinemia (eht). |
1996-10-16 |
2023-08-12 |
human |
| D E Jenne, K Denzel, P Blätzinger, P Winter, B Obermaier, R P Linke, K Altlan. A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 13. 1996-08-23. PMID:8692810. |
amyloid fibrils containing the variant and to a lesser extent the wild-type form of the ttr molecule are deposited in various organs, including peripheral nerves and the myocardium, with polyneuropathy and cardiomyopathy as major clinical manifestations. |
1996-08-23 |
2023-08-12 |
Not clear |
| K Toyooka, H Fujimura, S Ueno, H Yoshikawa, M Kaido, T Nishimura, S Yorifuji, T Yanagihar. Familial amyloid polyneuropathy associated with transthyretin Gly42 mutation: a quantitative light and electron microscopic study of the peripheral nervous system. Acta neuropathologica. vol 90. issue 5. 1996-02-28. PMID:8560986. |
we performed extensive quantitative analyses of the peripheral nervous system (pns) of two siblings with familial amyloid polyneuropathy (fap) caused by a transthyretin (ttr) gly42 mutation. |
1996-02-28 |
2023-08-12 |
Not clear |
| S L McCutchen, Z Lai, G J Miroy, J W Kelly, W Coló. Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease. Biochemistry. vol 34. issue 41. 1995-12-14. PMID:7577941. |
the role that transthyretin (ttr) mutations play in the amyloid disease familial amyloid polyneuropathy (fap) has been probed by comparing the biophysical properties of several ttr variants as a function of ph. |
1995-12-14 |
2023-08-12 |
Not clear |
| M M Reilly, D Adams, D R Booth, M B Davis, G Said, M Laubriat-Bianchin, M B Pepys, P K Thomas, A E Hardin. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain : a journal of neurology. vol 118 ( Pt 4). 1995-09-29. PMID:7655883. |
we investigated 99 patients from 64 european families (51 french, 11 british, one italian and one spanish) with suspected familial amyloid polyneuropathy (fap) for transthyretin (ttr) gene mutations. |
1995-09-29 |
2023-08-12 |
Not clear |
| M de F Torres, M do R Almeida, M J Saraiv. TTR exon scanning in peripheral neuropathies. Neuromuscular disorders : NMD. vol 5. issue 3. 1995-09-12. PMID:7633183. |
several ttr variants have been reported in association with familial amyloid polyneuropathy (fap) and the characterization of the mutations is crucial for understanding the process of amyloidogenesis. |
1995-09-12 |
2023-08-12 |
Not clear |