| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Maria Jo\\xc3\\xa3o Saraiva, Miguel Munar-Qu\\xc3\\xa9s, Pedro Modrego, Paul Moreira, Carles Viader-Farr\\xc3\\xa. First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. vol 10. issue 1. 2004-04-02. PMID:12762140.' |
first spanish family with familial amyloidotic polyneuropathy associated to ttr thr49ile mutation. |
2004-04-02 |
2023-08-12 |
Not clear |
| b' Maria Jo\\xc3\\xa3o Saraiva, Miguel Munar-Qu\\xc3\\xa9s, Pedro Modrego, Paul Moreira, Carles Viader-Farr\\xc3\\xa. First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. vol 10. issue 1. 2004-04-02. PMID:12762140.' |
we present a spanish patient with familial amyloidotic polyneuropathy associated with the ttr thr49ile mutation previously described in a japanese patient. |
2004-04-02 |
2023-08-12 |
Not clear |
| Mónica Mendes Sousa, Maria João Saraiv. Neurodegeneration in familial amyloid polyneuropathy: from pathology to molecular signaling. Progress in neurobiology. vol 71. issue 5. 2004-03-29. PMID:14757117. |
familial amyloid polyneuropathy (fap) is an autosomal dominant neurodegenerative disorder related to the systemic deposition of mutated transthyretin (ttr) amyloid fibrils, particularly in peripheral nervous system (pns). |
2004-03-29 |
2023-08-12 |
Not clear |
| Yukio Ando, Hisayasu Terazaki, Masaaki Nakamura, Eiko Ando, Katsuki Haraoka, Taro Yamashita, Mitsuharu Ueda, Hiroaki Okabe, Yutaka Sasaki, Hidenobu Tanihara, Makoto Uchino, Yukihiro Inomat. A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation. Transplantation. vol 77. issue 3. 2004-03-29. PMID:14966406. |
liver transplantation has served as a treatment for patients with familial amyloidotic polyneuropathy (fap) because variant transthyretin (ttr), the pathogenic protein of fap, is predominantly produced by the liver. |
2004-03-29 |
2023-08-12 |
Not clear |
| Klaus Altland, Pia Winte. Polyacrylamide gel electrophoresis followed by sodium dodecyl sulfate gradient polyacrylamide gel electrophoresis for the study of the dimer to monomer transition of human transthyretin. Electrophoresis. vol 24. issue 14. 2004-03-24. PMID:12874858. |
familial amyloidotic polyneuropathy (fap) is caused by mutations which destabilize transthyretin (ttr) and facilitate the aggregation into extracellular amyloid fibrils preferentially in peripheral nerve and heart tissues. |
2004-03-24 |
2023-08-12 |
human |
| Yutaka Takaoka, Mika Ohta, Kazuhisa Miyakawa, Osamu Nakamura, Misao Suzuki, Kiyoshi Takahashi, Ken-Ichi Yamamura, Yoshiyuki Sakak. Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. The American journal of pathology. vol 164. issue 1. 2004-02-27. PMID:14695346. |
type i familial amyloidotic polyneuropathy (fap), a systemic amyloidosis, is characterized by aggregation of variant transthyretin (ttr val30met) into stable, insoluble fibrils. |
2004-02-27 |
2023-08-12 |
mouse |
| Nora S Green, Satheesh K Palaninathan, James C Sacchettini, Jeffery W Kell. Synthesis and characterization of potent bivalent amyloidosis inhibitors that bind prior to transthyretin tetramerization. Journal of the American Chemical Society. vol 125. issue 44. 2004-02-26. PMID:14583036. |
the misfolding of transthyretin (ttr), including rate-limiting tetramer dissociation and partial monomer denaturation, is sufficient for ttr misassembly into amyloid and other abnormal quaternary structures associated with senile systemic amyloidosis, familial amyloid polyneuropathy, and familial amyloid cardiomyopathy. |
2004-02-26 |
2023-08-12 |
Not clear |
| Xuguo Sun, Yukio Ando, Katsuki Haraoka, Shoichi Katsuragi, Taro Yamashita, Sonoka Yamashita, Miyo Okajima, Hisayasu Terazaki, Hiroaki Okab. Role of VLDL/chylomicron in amyloid formation in familial amyloidotic polyneuropathy. Biochemical and biophysical research communications. vol 311. issue 2. 2004-02-10. PMID:14592420. |
we examined the affinity of transthyretin (ttr) for lipoproteins and the effect of lipoproteins on ttr-related amyloidogenesis using serum samples from healthy volunteers and patients with familial amyloidotic polyneuropathy (fap) attrval30met. |
2004-02-10 |
2023-08-12 |
human |
| Débora Foguel, Marisa C Suarez, Astria D Ferrão-Gonzales, Thais C R Porto, Leonardo Palmieri, Carla M Einsiedler, Leonardo R Andrade, Hilal A Lashuel, Peter T Lansbury, Jeffery W Kelly, Jerson L Silv. Dissociation of amyloid fibrils of alpha-synuclein and transthyretin by pressure reveals their reversible nature and the formation of water-excluded cavities. Proceedings of the National Academy of Sciences of the United States of America. vol 100. issue 17. 2003-10-29. PMID:12900507. |
fibril formation by wt transthyretin (ttr) or ttr variants has been linked to the etiology of systemic amyloidosis and familial amyloid polyneuropathy, respectively. |
2003-10-29 |
2023-08-12 |
human |
| Masahide Yazaki, Juris J Liepnieks, John C Kincaid, Merrill D Benso. Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid. Muscle & nerve. vol 28. issue 4. 2003-10-29. PMID:14506715. |
to elucidate the contribution of wild-type transthyretin (ttr) to amyloid polyneuropathy in ttr amyloidosis, we biochemically investigated amyloid fibrils isolated from sciatic nerve of an autopsied patient with ttr ala25ser variant and compared the amount of wild-type and variant ttr in the nerve to that in the heart. |
2003-10-29 |
2023-08-12 |
Not clear |
| C M Mak, C W Lam, S T Fan, C L Liu, S C Ta. Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred. Acta neurologica Scandinavica. vol 107. issue 6. 2003-07-29. PMID:12757474. |
familial amyloidotic polyneuropathy type 1 (fap1, mim176300) is an autosomal dominant disease caused by mutations in the transthyretin (ttr) gene. |
2003-07-29 |
2023-08-12 |
human |
| Katsuki Haraoka, Yukio Ando, Eiko Ando, Xuguo Sun, Masaaki Nakamura, Hisayasu Terazaki, Shogo Misumi, Yutaka Tanoue, Takahiro Tajiri, Shozo Shoji, Takashi Ishizaki, Hiroaki Okabe, Hidenobu Tanihar. Presence of variant transthyretin in aqueous humor of a patient with familial amyloidotic polyneuropathy after liver transplantation. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. vol 9. issue 4. 2003-07-28. PMID:12557753. |
to determine the origin of transthyretin (ttr) in the aqueous humor of patients with familial amyloidotic polyneuropathy (fap), we measured ttr levels and analyzed the ttr forms in the aqueous humor of three fap patients (one patient; liver transplanted, and two patients; non-transplanted). |
2003-07-28 |
2023-08-12 |
Not clear |
| Luísa Lobat. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Journal of nephrology. vol 16. issue 3. 2003-07-25. PMID:12832749. |
the disease, also called familial amyloid polyneuropathy type i (fap-i), is caused by a mutant transthyretin (ttr) protein, which is synthesized by the liver. |
2003-07-25 |
2023-08-12 |
Not clear |
| Luísa Lobato, Idalina Beirão, Manuela Silva, Fernanda Bravo, Frederico Silvestre, Serafim Guimarães, Alda Sousa, Laure-Hélène Noël, Jorge Sequeiro. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. vol 18. issue 3. 2003-07-16. PMID:12584275. |
portuguese type familial amyloid polyneuropathy (fap) is a neuropathic amyloidosis caused by a mutant transthyretin (ttr). |
2003-07-16 |
2023-08-12 |
Not clear |
| Astria D Ferrão-Gonzales, Leonardo Palmieri, Marcelo Valory, Jerson L Silva, Hilal Lashuel, Jeffery W Kelly, Débora Fogue. Hydration and packing are crucial to amyloidogenesis as revealed by pressure studies on transthyretin variants that either protect or worsen amyloid disease. Journal of molecular biology. vol 328. issue 4. 2003-06-12. PMID:12729768. |
transthyretin (ttr) is involved in senile systemic amyloidosis (wild-type protein) and familial amyloidotic polyneuropathy (point mutants). |
2003-06-12 |
2023-08-12 |
Not clear |
| Luís Gales, Isabel Cardoso, Barbara Fayard, Alexandre Quintanilha, Maria J Saraiva, Ana M Dama. X-ray absorption spectroscopy reveals a substantial increase of sulfur oxidation in transthyretin (TTR) upon fibrillization. The Journal of biological chemistry. vol 278. issue 13. 2003-05-02. PMID:12538647. |
transthyretin (ttr) amyloid fibrils are the main component of the amyloid deposits occurring in familial amyloidotic polyneuropathy patients. |
2003-05-02 |
2023-08-12 |
human |
| E Hund, R Singer, R P Linke, F Willig, A Gra. [Hereditary amyloidoses associated with transthyretin mutations]. Der Nervenarzt. vol 73. issue 10. 2003-04-15. PMID:12376880. |
in typical cases, ttr amyloidoses present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. |
2003-04-15 |
2023-08-12 |
Not clear |
| Akira Kimura, Eiko Ando, Mikiko Fukushima, Takahisa Koga, Akira Hirata, Kazue Arimura, Yukio Ando, Akira Negi, Hidenobu Tanihar. Secondary glaucoma in patients with familial amyloidotic polyneuropathy. Archives of ophthalmology (Chicago, Ill. : 1960). vol 121. issue 3. 2003-03-31. PMID:12617705. |
to elucidate the clinical features and surgical outcomes of the treatment of secondary glaucoma associated with transthyretin (ttr)-related familial amyloidotic polyneuropathy (fap). |
2003-03-31 |
2023-08-12 |
Not clear |
| Hiromitsu Noguchi, Tadashi Kaname, Tomohisa Sekimoto, Kei Senba, Yasushi Nagata, Masatake Araki, Makoto Abe, Naomi Nakagata, Tomomichi Ono, Ken-Ichi Yamamura, Kimi Arak. Naso-maxillary deformity due to frontonasal expression of human transthyretin gene in transgenic mice. Genes to cells : devoted to molecular & cellular mechanisms. vol 7. issue 10. 2003-03-04. PMID:12354101. |
we produced several transgenic mouse lines using the human mutant ttr (httrmet30) gene to establish a mouse model of familial amyloidotic polyneuropathy. |
2003-03-04 |
2023-08-12 |
mouse |
| Ole B Suhr, Bo-Göran Ericzon, Styrbjörn Frima. Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society. vol 8. issue 9. 2003-02-11. PMID:12200779. |
portuguese type familial amyloid polyneuropathy is a dominantly inherited neuropathic amyloidosis caused by a mutant transthyretin (ttr). |
2003-02-11 |
2023-08-12 |
Not clear |