| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| C J Terry, A M Damas, P Oliveira, M J Saraiva, I L Alves, P P Costa, P M Matias, Y Sakaki, C C Blak. Structure of Met30 variant of transthyretin and its amyloidogenic implications. The EMBO journal. vol 12. issue 2. 1993-03-26. PMID:8382610. |
familial amyloidotic polyneuropathy (fap) is an autosomal dominant hereditary type of lethal amyloidosis involving single (or double) amino acid substitutions in the amyloidogenic protein transthyretin (ttr). |
1993-03-26 |
2023-08-12 |
Not clear |
| S Ikeda, T Nakano, N Yanagisawa, M Nakazato, H Tsukagosh. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. European neurology. vol 32. issue 6. 1993-03-04. PMID:1490495. |
type i familial amyloid polyneuropathy (fap) is a molecular disorder with a mutation of the transthyretin (ttr) gene, and most patients previously examined were reported to be heterozygous for this mutant gene. |
1993-03-04 |
2023-08-11 |
Not clear |
| T Yoshinaga, M Nakazato, S Ikeda, A Ohnish. Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy. Neurology. vol 42. issue 10. 1992-11-17. PMID:1407590. |
we report the cases of three siblings homozygous for a mutated transthyretin (ttr) gene that causes type i familial amyloidotic polyneuropathy (fap), in whom we made the diagnosis by identifying both the mutated ttr gene and a variant ttr in their sera. |
1992-11-17 |
2023-08-11 |
Not clear |
| F Kametani, S Ikeda, N Yanagisawa, T Ishi, N Hany. Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. Journal of the neurological sciences. vol 108. issue 2. 1992-10-08. PMID:1517749. |
recently, it has been reported that transthyretin (ttr)-immunoreactive amyloid deposition with cerebral amyloid angiopathy in central nervous system is a common pathological finding in type i familial amyloid polyneuropathy (fap). |
1992-10-08 |
2023-08-11 |
Not clear |
| T Murakami, T Atsumi, S Maeda, S Tanase, K Ishikawa, S Mita, T Kumamoto, S Araki, M And. A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochemical and biophysical research communications. vol 187. issue 1. 1992-10-07. PMID:1520326. |
a novel transthyretin (ttr) mutation associated with familial amyloidotic polyneuropathy was detected in a japanese patient. |
1992-10-07 |
2023-08-11 |
Not clear |
| T Murakami, S Yi, S Maeda, F Tashiro, K Yamamura, K Takahashi, K Shimada, S Arak. Effect of serum amyloid P component level on transthyretin-derived amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy. The American journal of pathology. vol 141. issue 2. 1992-09-10. PMID:1497094. |
to elucidate the pathogenesis of amyloid deposition associated with familial amyloidotic polyneuropathy (fap), we developed several transgenic mouse lines carrying the human mutant transthyretin (ttr) gene. |
1992-09-10 |
2023-08-11 |
mouse |
| G Holmgren, S Bergström, U Drugge, E Lundgren, C Nording-Sikström, O Sandgren, L Stee. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clinical genetics. vol 41. issue 1. 1992-08-24. PMID:1353008. |
familial amyloidotic polyneuropathy (fap) with a mutation in position 30 of transthyretin (ttr) (previously called prealbumin) is an autosomal dominant inherited disorder characterized by varying degrees of peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. |
1992-08-24 |
2023-08-11 |
Not clear |
| T Uemichi, S Ueno, N Takahashi, F Soga, S Yorifuji, S Taru. [DNA tests for mutant genes coding for transthyretins Gly42, Arg50 and Cys114 in Japanese cases of familial amyloid polyneuropathy]. Rinsho shinkeigaku = Clinical neurology. vol 31. issue 10. 1992-04-30. PMID:1686993. |
four different genes encoding variant transthyretins (ttr) have been known in japanese cases with familial amyloidotic polyneuropathy (fap); ttr met30, gly42, arg50 and cys114. |
1992-04-30 |
2023-08-11 |
Not clear |
| E Ando, Y Ando, S Maruoka, Y Sakai, S Watanabe, R Yamashita, R Okamura, S Arak. Ocular microangiopathy in familial amyloidotic polyneuropathy, type I. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. vol 230. issue 1. 1992-04-20. PMID:1547960. |
to obtain precise information on ophthalmological manifestations in patients with familial amyloidotic polyneuropathy (fap), we performed ophthalmological and histopathological studies on 18 fap patients and 6 asymptomatic individuals with a mutant transthyretin (ttr) gene. |
1992-04-20 |
2023-08-11 |
Not clear |
| L A Jones, J C Skare, A S Cohen, J A Harding, A Milunsky, M Skinne. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clinical genetics. vol 41. issue 2. 1992-04-16. PMID:1544214. |
familial amyloidotic polyneuropathy (fap) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (ttr), previously known as prealbumin. |
1992-04-16 |
2023-08-11 |
Not clear |
| S Ii, J L Sobell, S S Somme. From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease. American journal of human genetics. vol 50. issue 1. 1992-02-13. PMID:1729893. |
ttr is an intriguing protein of unknown function, but deposition of mutant ttr produces familial amyloidotic polyneuropathy (fap). |
1992-02-13 |
2023-08-11 |
Not clear |
| J Harding, J Skare, M Skinne. A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. Biochimica et biophysica acta. vol 1097. issue 3. 1991-12-06. PMID:1932142. |
genomic dna was isolated from peripheral blood lymphocytes of a patient with familial amyloidotic polyneuropathy (fap) and the transthyretin (ttr) gene examined for sequence mutations. |
1991-12-06 |
2023-08-11 |
Not clear |
| Y Saeki, S Ueno, S Yorifuji, Y Sugiyama, Y Ide, Y Matsuzaw. New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. Biochemical and biophysical research communications. vol 180. issue 1. 1991-11-21. PMID:1656975. |
single-strand conformation polymorphism (sscp) was analyzed to detect a mutation in the transthyretin (ttr) gene from the mother and son showing polyneuropathy with carpal tunnel syndrome. |
1991-11-21 |
2023-08-11 |
Not clear |
| M J Saraiva, M R Almeida, I L Alves, P Moreira, M Gawinowicz, P P Costa, S Rauh, A Banhzoff, K Altlan. Molecular analyses of an acidic transthyretin Asn 90 variant. American journal of human genetics. vol 48. issue 5. 1991-05-23. PMID:1850190. |
the portuguese population sample was from the area where ttr met 30-associated familial amyloidotic polyneuropathy (fap) prevails, and it was divided into (a) a group of 500 individuals belonging to fap kindreds and (b) a group of 700 collected at random. |
1991-05-23 |
2023-08-11 |
human |
| L A Jones, J C Skare, J A Harding, A S Cohen, A Milunsky, M Skinne. Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. American journal of human genetics. vol 48. issue 5. 1991-05-23. PMID:1850191. |
familial amyloidotic polyneuropathy (fap) is associated with the deposition of an abnormal transthyretin (ttr) molecule. |
1991-05-23 |
2023-08-11 |
Not clear |
| H Furuya, M J Saraiva, M A Gawinowicz, I L Alves, P P Costa, H Sasaki, I Goto, Y Sakak. Production of recombinant human transthyretin with biological activities toward the understanding of the molecular basis of familial amyloidotic polyneuropathy (FAP). Biochemistry. vol 30. issue 9. 1991-04-18. PMID:1848097. |
several variants of ttr with single amino acid substitutions have been identified as the major components of the amyloid fibrils of familial amyloidotic polyneuropathy (fap), a fetal, autosomal dominant genetic disease. |
1991-04-18 |
2023-08-11 |
human |
| S Yi, K Takahashi, M Naito, F Tashiro, S Wakasugi, S Maeda, K Shimada, K Yamamura, S Arak. Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I. The American journal of pathology. vol 138. issue 2. 1991-03-14. PMID:1992765. |
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. |
1991-03-14 |
2023-08-11 |
mouse |
| O Sandgren, G Holmgren, E Lundgre. Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene. Archives of ophthalmology (Chicago, Ill. : 1960). vol 108. issue 11. 1991-01-02. PMID:1978774. |
biochemical studies have revealed that the amyloid protein in familial amyloidotic polyneuropathy of japanese, swedish, and portuguese origin mainly consists of a variant transthyretin with one amino acid substitution of methionine for valine at position 30, termed ttr met-30. |
1991-01-02 |
2023-08-11 |
Not clear |
| O Sandgren, G Holmgren, E Lundgre. Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene. Archives of ophthalmology (Chicago, Ill. : 1960). vol 108. issue 11. 1991-01-02. PMID:1978774. |
in five swedish patients with familial amyloidotic polyneuropathy we diagnosed homozygosity for the ttr met-30 gene using restriction fragment length polymorphism analysis. |
1991-01-02 |
2023-08-11 |
Not clear |
| M R Almeida, I L Alves, Y Sakaki, P P Costa, M J Saraiv. Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30. Human genetics. vol 85. issue 6. 1990-12-26. PMID:1977686. |
transthyretin methionine 30 (ttr met 30), which is associated with familial amyloidotic polyneuropathy, originates in a single base substitution (a for g) in the second exon of the ttr gene. |
1990-12-26 |
2023-08-11 |
Not clear |