| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| M M Reilly, H Staunton, A E Hardin. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. Journal of neurology, neurosurgery, and psychiatry. vol 59. issue 1. 1995-08-15. PMID:7608709. |
familial amyloid polyneuropathy (ttr ala 60) in north west ireland: a clinical, genetic, and epidemiological study. |
1995-08-15 |
2023-08-12 |
Not clear |
| R Berni, G Malpeli, C Folli, J R Murrell, J J Liepnieks, M D Benso. The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. The Journal of biological chemistry. vol 269. issue 38. 1994-10-20. PMID:8089102. |
the ile-84-->ser mutation and several other point mutations in ttr are associated with familial amyloidotic polyneuropathy, which is characterized by extracellular depositions of amyloid fibrils mainly consisting of mutated ttrs. |
1994-10-20 |
2023-08-12 |
human |
| R Berni, G Malpeli, C Folli, J R Murrell, J J Liepnieks, M D Benso. The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. The Journal of biological chemistry. vol 269. issue 38. 1994-10-20. PMID:8089102. |
therefore, in general a substantially altered binding of ttr to rbp is not associated with familial amyloidotic polyneuropathy. |
1994-10-20 |
2023-08-12 |
human |
| S Araki, S Yi, T Murakami, S Watanabe, S Ikegawa, K Takahashi, K Yamarnur. Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met 30) gene. Pathological and immunohistochemical similarity to human familial amyloidotic polyneuropathy, type I. Molecular neurobiology. vol 8. issue 1. 1994-10-17. PMID:8086125. |
to analyze the pathologic processes of amyloid deposition in type i familial amyloidotic polyneuropathy (fap), mice were made transgenic by introducing the human mutant transthyretin (ttr) gene(mt-hmet 30). |
1994-10-17 |
2023-08-12 |
mouse |
| A Hesse, K Altland, R P Linke, M R Almeida, M J Saraiva, A Steinmetz, B Maisc. Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. British heart journal. vol 70. issue 2. 1994-08-25. PMID:8038017. |
like polyneuropathy, cardiac amyloidosis is a prominent clinical feature of hereditary amyloidosis, namely of the autosomal dominant transthyretin (ttr) type. |
1994-08-25 |
2023-08-12 |
human |
| D R Jacobson, J N Buxbau. A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy. Human mutation. vol 3. issue 3. 1994-08-04. PMID:8019560. |
transthyretin (ttr) isolated from amyloid fibrils from an israeli patient ("sko") with familial amyloidotic polyneuropathy has been studied by two groups of investigators. |
1994-08-04 |
2023-08-12 |
Not clear |
| S L McCutchen, W Colon, J W Kell. Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity. Biochemistry. vol 32. issue 45. 1993-12-21. PMID:8218290. |
a recently reported variant of human transthyretin (ttr), leu-55-pro, implicated as the causative agent in early-onset familial amyloid polyneuropathy was expressed and characterized, and its denaturation pathway and amyloidogenicity were compared to those of wild-type transthyretin. |
1993-12-21 |
2023-08-12 |
human |
| N Takahashi, S Uen. [Clinical and genetic heterogeneity in familial amyloidotic polyneuropathy associated with variant transthyretin]. Nihon rinsho. Japanese journal of clinical medicine. vol 51. issue 9. 1993-11-22. PMID:8411724. |
familial amyloid polyneuropathy (fap) is an autosomal disease, usually associated with a variant of transthyretin (ttr). |
1993-11-22 |
2023-08-12 |
Not clear |
| S Ii, S S Somme. The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. Human molecular genetics. vol 2. issue 8. 1993-11-05. PMID:8401513. |
the high frequency of ttr m30 in familial amyloidotic polyneuropathy is not due to a founder effect. |
1993-11-05 |
2023-08-12 |
Not clear |
| S Ii, S S Somme. The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. Human molecular genetics. vol 2. issue 8. 1993-11-05. PMID:8401513. |
familial amyloidotic polyneuropathy (fap) is an autosomal dominant disease due to mutations in the transthyretin (ttr) gene. |
1993-11-05 |
2023-08-12 |
Not clear |
| K Shiomi, M Nakazato, S Matsukura, A Ohnishi, H Hatanaka, S Tsuji, Y Murai, M Kojima, K Kangawa, H Matsu. A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochemical and biophysical research communications. vol 194. issue 3. 1993-09-15. PMID:8352764. |
a new mutation of transthyretin (ttr) has been identified in a patient with late-onset familial amyloidotic polyneuropathy (fap) of japanese origin. |
1993-09-15 |
2023-08-12 |
Not clear |
| I L Alves, C M Divino, G C Schussler, K Altland, M R Almeida, J A Palha, T Coelho, P P Costa, M J Saraiv. Thyroxine binding in a TTR Met 119 kindred. The Journal of clinical endocrinology and metabolism. vol 77. issue 2. 1993-09-09. PMID:8102146. |
an additional kindred has been identified by hybrid isoelectric focusing in an ongoing screening program for ttr variants in the portuguese population with ttr met 30 associated familial amyloidotic polyneuropathy. |
1993-09-09 |
2023-08-12 |
Not clear |
| H N Rosen, A C Moses, J R Murrell, J J Liepnieks, M D Benso. Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants. The Journal of clinical endocrinology and metabolism. vol 77. issue 2. 1993-09-09. PMID:8345041. |
alterations in ttr structure can manifest clinically as familial amyloidotic polyneuropathy or euthyroid hyperthyroxinemia. |
1993-09-09 |
2023-08-12 |
human |
| H N Rosen, A C Moses, J R Murrell, J J Liepnieks, M D Benso. Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants. The Journal of clinical endocrinology and metabolism. vol 77. issue 2. 1993-09-09. PMID:8345041. |
we have compared control plasma to plasma from a patient heterozygous for a [thr109]ttr mutation associated with a 3-fold increased affinity for t4 and to plasma from patients with familial amyloidotic polyneuropathy with different point mutations in ttr. |
1993-09-09 |
2023-08-12 |
human |
| P M Costa, A Teixeira, M J Saraiva, P P Cost. Immunoassay for transthyretin variants associated with amyloid neuropathy. Scandinavian journal of immunology. vol 38. issue 2. 1993-09-09. PMID:8394031. |
an anti-transthyretin (ttr) mouse monoclonal antibody (88.6.fd6) of igg1 subclass, obtained using as immunogen ttr from the serum of a patient with familial amyloidotic polyneuropathy, was found to bind to sera from carriers of several amyloidogenic ttr variants associated with peripheral neuropathy, but not to normal sera or sera from carriers of non-pathogenic or cardiomyopathic variants, in an elisa performed under special conditions. |
1993-09-09 |
2023-08-12 |
mouse |
| K Bhatia, M Reilly, D Adams, M B Davis, C H Hawkes, P K Thomas, G Said, A E Hardin. Transthyretin gene mutations in British and French patients with amyloid neuropathy. Journal of neurology, neurosurgery, and psychiatry. vol 56. issue 6. 1993-07-12. PMID:8509786. |
five patients, two british and three french, with late onset amyloid neuropathy were found to have mutations of the transthyretin (ttr) gene associated with the portuguese and german types of familial amyloid polyneuropathy. |
1993-07-12 |
2023-08-12 |
Not clear |
| G Grateau, D Adams, D Malapert, M Viemont, M Delpech, G Sai. Late-onset familial amyloid polyneuropathy with the TTR Met 30 mutation in France. Clinical genetics. vol 43. issue 3. 1993-07-01. PMID:8500260. |
late-onset familial amyloid polyneuropathy with the ttr met 30 mutation in france. |
1993-07-01 |
2023-08-12 |
Not clear |
| D Adams, M Reilly, A E Harding, G Sai. [Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. Revue neurologique. vol 148. issue 12. 1993-06-24. PMID:1338934. |
the portuguese type of familial amyloid polyneuropathy (fap type i) is a disabling autosomic dominant disorder, which is caused by a point mutation in the transthyretin (ttr) gene. |
1993-06-24 |
2023-08-11 |
Not clear |
| D Adams, M Reilly, A E Harding, G Sai. [Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. Revue neurologique. vol 148. issue 12. 1993-06-24. PMID:1338934. |
in this study, we have looked for ttr gene mutations in apparently sporadic cases of amyloid polyneuropathy by southern's technique. |
1993-06-24 |
2023-08-11 |
Not clear |
| G Holmgren, E Lundgren, K Kangawa, T Kurihara, S Matsukura, H Matsuo, M Nakazato, L Stee. Diagnostic radioimmunoassay and DNA-analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene. Acta neurologica Scandinavica. vol 87. issue 2. 1993-03-30. PMID:8095120. |
eighteen swedish patients with familial amyloidotic polyneuropathy were tested for the met30 mutation of the transthyretin (ttr) (prealbumin) gene by rflp analysis of genomic dna using the restriction enzyme nsii. |
1993-03-30 |
2023-08-12 |
Not clear |