| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shenia Novis, Felipe Machado, Victor B Costa, Debora Foguel, Marcia W Cruz, José Manoel de Seixa. Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. vol 24. issue 3. 2018-04-30. PMID:28719236. |
hereditary (familial) amyloid polyneuropathy (fap) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (ttr) mutations. |
2018-04-30 |
2023-08-13 |
Not clear |
| Hui Chen, Xueya Zhou, Jing Wang, Xi Wang, Liyang Liu, Shinan Wu, Tengyan Li, Si Chen, Jingwen Yang, Pak Chung Sham, Guangming Zhu, Xuegong Zhang, Binbin Wan. Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. Scientific reports. vol 6. 2018-04-23. PMID:27212199. |
through systematic computational prioritization, we identified a missense mutation c.g148t in ttr gene which results in a p.v50l substitution known to cause transthyretin-related familial amyloid polyneuropathy. |
2018-04-23 |
2023-08-13 |
human |
| Ângela Leite, Fernanda Leite, Maria Alzira P Dini. Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge. Public health genomics. vol 20. issue 3. 2018-04-23. PMID:28813711. |
this study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (lond): familial amyloid polyneuropathy (fap) ttr v30m, huntington disease (hd), and machado-joseph disease (mjd). |
2018-04-23 |
2023-08-13 |
human |
| Ville V Meretoja, Sudhir Paul, Stephanie A Planqu. Hydrolysis and Dissolution of Amyloids by Catabodies. Methods in molecular biology (Clifton, N.J.). vol 1643. 2018-03-26. PMID:28667533. |
accumulation of the oligomeric and fibrillized amyloid ttr forms causes diverse systemic pathologies, including cardiomyopathy, polyneuropathy, and skeletal diseases. |
2018-03-26 |
2023-08-13 |
Not clear |
| Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying W. Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. Journal of the peripheral nervous system : JPNS. vol 22. issue 1. 2018-02-20. PMID:27859927. |
to avoid misdiagnosis, clinicians should consider screening for ttr variants in patients presenting with progressive polyneuropathy of undetermined origins. |
2018-02-20 |
2023-08-13 |
Not clear |
| Hacer Durmuş-Tekçe, Zeliha Matur, Murat Mert Atmaca, Mehves Poda, Arman Çakar, Ümit Hıdır Ulaş, Piraye Oflazer-Serdaroğlu, Feza Deymeer, Yesim G Parma. Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. Neuromuscular disorders : NMD. vol 26. issue 7. 2018-01-24. PMID:27238058. |
transthyretin-related familial amyloid polyneuropathy (ttr-fap) is an autosomal dominant disorder caused by mutations of the transthyretin (ttr) gene. |
2018-01-24 |
2023-08-13 |
Not clear |
| Hacer Durmuş-Tekçe, Zeliha Matur, Murat Mert Atmaca, Mehves Poda, Arman Çakar, Ümit Hıdır Ulaş, Piraye Oflazer-Serdaroğlu, Feza Deymeer, Yesim G Parma. Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. Neuromuscular disorders : NMD. vol 26. issue 7. 2018-01-24. PMID:27238058. |
the clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in ttr were evaluated. |
2018-01-24 |
2023-08-13 |
Not clear |
| Seyyed Abolghasem Ghadami, Francesco Bemporad, Benedetta Maria Sala, Guido Tiana, Stefano Ricagno, Fabrizio Chit. FRET studies of various conformational states adopted by transthyretin. Cellular and molecular life sciences : CMLS. vol 74. issue 19. 2017-12-12. PMID:28478513. |
transthyretin (ttr) is an extracellular protein able to deposit into well-defined protein aggregates called amyloid, in pathological conditions known as senile systemic amyloidosis, familial amyloid polyneuropathy, familial amyloid cardiomyopathy and leptomeningeal amyloidosis. |
2017-12-12 |
2023-08-13 |
Not clear |
| Todd D Levine, Ruth J Blan. Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy. Muscle & nerve. vol 57. issue 1. 2017-12-12. PMID:28556268. |
mutations of the transthyretin (ttr) gene have been associated with polyneuropathy; the protein product has a tendency to form amyloid deposits in the peripheral nervous system. |
2017-12-12 |
2023-08-13 |
Not clear |
| Nádia Pereira Gonçalves, Paula Gonçalves, Joana Magalhães, Miguel Ventosa, Ana Varela Coelho, Maria João Saraiv. Tissue remodeling after interference RNA mediated knockdown of transthyretin in a familial amyloidotic polyneuropathy mouse model. Neurobiology of aging. vol 47. 2017-10-17. PMID:27568093. |
transthyretin (ttr) deposition in the peripheral nervous system is the hallmark of familial amyloidotic polyneuropathy (fap). |
2017-10-17 |
2023-08-13 |
mouse |
| Christoph J Niemietz, Vanessa Sauer, Jacqueline Stella, Lutz Fleischhauer, Gursimran Chandhok, Sarah Guttmann, Yesim Avsar, Shuling Guo, Elizabeth J Ackermann, Jared Gollob, Brett P Monia, Andree Zibert, Hartmut H-J Schmid. Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells. PloS one. vol 11. issue 9. 2017-08-02. PMID:27584576. |
familial amyloid polyneuropathy (fap) is caused by mutations of the transthyretin (ttr) gene, predominantly expressed in the liver. |
2017-08-02 |
2023-08-13 |
human |
| Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohr. Vitreous Amyloidosis: Ocular, Systemic, and Genetic Insights. Ophthalmology. vol 124. issue 7. 2017-07-21. PMID:28412068. |
a novel mutation in the transthyretin gene (ttr) in indian patients with familial amyloid polyneuropathy (fap) is described. |
2017-07-21 |
2023-08-13 |
Not clear |
| Natalie J Galant, Per Westermark, Jeffrey N Higaki, Avijit Chakrabartt. Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy. Clinical science (London, England : 1979). vol 131. issue 5. 2017-06-30. PMID:28213611. |
transthyretin (ttr) amyloidosis (attr amyloidosis) is an underdiagnosed and important type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the medical community. |
2017-06-30 |
2023-08-13 |
Not clear |
| Hartmut H-J Schmidt, Fabio Barroso, Alejandra González-Duarte, Isabel Conceição, Laura Obici, Denis Keohane, Leslie Amas. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy. Muscle & nerve. vol 54. issue 3. 2017-06-27. PMID:27273296. |
transthyretin familial amyloid polyneuropathy (ttr-fap) is a rare, severe, and irreversible, adult-onset, hereditary disorder caused by autosomal-dominant mutations in the ttr gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. |
2017-06-27 |
2023-08-13 |
Not clear |
| Genki Suenaga, Tokunori Ikeda, Yoshihiro Komohara, Koutaro Takamatsu, Tatsuyuki Kakuma, Masayoshi Tasaki, Yohei Misumi, Mitsuharu Ueda, Takaaki Ito, Satoru Senju, Yukio And. Involvement of Macrophages in the Pathogenesis of Familial Amyloid Polyneuropathy and Efficacy of Human iPS Cell-Derived Macrophages in Its Treatment. PloS one. vol 11. issue 10. 2017-06-15. PMID:27695122. |
we hypothesized that tissue-resident macrophages in familial amyloid polyneuropathy (fap) patients will exhibit qualitative or quantitative abnormalities, that may accelerate transthyretin (ttr)-derived amyloid deposition. |
2017-06-15 |
2023-08-13 |
human |
| Violaine Planté-Bordeneuve, Farida Gorram, Hayet Salhi, Tarik Nordine, Samar S Ayache, Philippe Le Corvoisier, Daniel Azoulay, Cyrille Feray, Thibaud Damy, Jean-Pascal Lefaucheu. Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study. Journal of neurology. vol 264. issue 2. 2017-06-12. PMID:27878441. |
tafamidis is a transthyretin (ttr) stabilizer recently approved to slow the neurologic impairment in ttr familial amyloid polyneuropathy (ttr-fap). |
2017-06-12 |
2023-08-13 |
Not clear |
| Yoshimichi Miyazak. Treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a case report. Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics. vol 54. issue 1. 2017-05-24. PMID:28202889. |
familial amyloid polyneuropathy (fap) is a rare hereditary disorder caused by mutations in the transthyretin (ttr) gene. |
2017-05-24 |
2023-08-13 |
Not clear |
| D Adams, G Beaudonnet, C Adam, C Lacroix, M Théaudin, C Cauquil, C Labeyri. Familial amyloid polyneuropathy: When does it stop to be asymptomatic and need a treatment? Revue neurologique. vol 172. issue 10. 2017-04-11. PMID:27663057. |
transthyretin familial amyloid polyneuropathy (fap) is a rare disease with autosomal transmission due to point mutation of the transthyretin (ttr) gene. |
2017-04-11 |
2023-08-13 |
Not clear |
| Daisuke Kuzume, Kazuaki Sajima, Yuko Morimoto, Kanako Komatsu, Masahiro Yamasaki, Hideaki Enza. A case of familial amyloid polyneuropathy (FAP ATTR Ile107Val) with proximal muscle weakness in the lower extremities. Rinsho shinkeigaku = Clinical neurology. vol 56. issue 4. 2017-03-23. PMID:27025994. |
proximal dominant muscle weakness is rare in transthyretin (ttr)-related familial amyloid polyneuropathy (fap). |
2017-03-23 |
2023-08-13 |
Not clear |
| Catarina S H Jesus, Zaida L Almeida, Daniela C Vaz, Tiago Q Faria, Rui M M Brit. A New Folding Kinetic Mechanism for Human Transthyretin and the Influence of the Amyloidogenic V30M Mutation. International journal of molecular sciences. vol 17. issue 9. 2017-03-23. PMID:27589730. |
although caused by different proteins, these pathologies share some basic molecular mechanisms with familial amyloidotic polyneuropathy (fap), a rare hereditary neuropathy caused by amyloid formation and deposition by transthyretin (ttr) in the peripheral and autonomic nervous systems. |
2017-03-23 |
2023-08-13 |
human |