MOLECULAR STRATEGIES IN GENETIC DIAGNOSIS OF TRANSTHYRETIN-RELATED HEREDITARY AMYLOIDOSIS

被引：38
|
作者：
FERLINI, A
FINI, S
SALVI, F
PATROSSO, MC
VEZZONI, P
FORABOSCO, A
机构：
[1] BELLARIA HOSP, DEPT NEUROL, BOLOGNA, ITALY
[2] CNR, IST TECNOL BIOMED AVANZATE, I-20133 MILAN, ITALY
来源：
FASEB JOURNAL | 1992年 / 6卷 / 10期
关键词：
TRANSTHYRETIN GENE; HEREDITARY AMYLOIDOSIS; RG-PCR SEQUENCE ANALYSIS;
D O I：
10.1096/fasebj.6.10.1353040
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Transthyretin-related hereditary (TTR) amyloidoses represent a clinically heterogeneous group of diseases associated with various point mutations of the TTR gene. We propose a molecular strategy for the diagnosis of this group of disorders.
引用
收藏
页码：2864 / 2866
页数：3
相关论文
共 50 条
  • [41] Novel therapy for transthyretin-related ocular amyloidosis
    Hara, R.
    Kawaji, T.
    Tanihara, H.
    Ando, Y.
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2010, 17 : 130 - 131
  • [42] Gentherapieoptionen der hereditären TransthyretinamyloidoseGene therapy options for hereditary transthyretin-related amyloidosis
    Matthias Schilling
    Der Nervenarzt, 2022, 93 : 557 - 565
  • [43] Aging and transthyretin-related amyloidosis: Pathologic examinations in pulmonary amyloidosis
    Ueda, Mitsuharu
    Ando, Yukio
    Haraoka, Katsuki
    Katsuragi, Shoichi
    Terasaki, Yasuhiro
    Sugimoto, Mineharu
    Sun, Xuguo
    Uchino, Makoto
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2006, 13 (01): : 24 - 30
  • [44] Risk stratification in transthyretin-related cardiac amyloidosis
    Scirpa, Riccardo
    Cittadini, Edoardo
    Mazzocchi, Lorenzo
    Tini, Giacomo
    Sclafani, Matteo
    Russo, Domitilla
    Imperatrice, Andrea
    Tropea, Alessandro
    Autore, Camillo
    Musumeci, Beatrice
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2023, 10
  • [45] Effectiveness of skeletal scintigraphy in transthyretin-related amyloidosis
    Minutoli, Fabio
    Di Bella, Gianluca
    Sindoni, Alessandro
    Vita, Giuseppe
    Baldari, Sergio
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2013, 168 (05) : 4988 - 4989
  • [46] Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis
    Alarcon, Flora
    Plante-Bordeneuve, Violaine
    Olsson, Malin
    Nuel, Gregory
    PLOS ONE, 2018, 13 (09):
  • [47] Cardiac function in patients with transthyretin-related hereditary amyloidosis and its relation to other clinical parameters
    Gospodinova, M.
    Sarafov, S.
    Guergelcheva, V.
    Ivanova, R.
    Kirov, A.
    Todorov, T.
    Todorova, A.
    Tournev, I.
    Denchev, S.
    EUROPEAN JOURNAL OF HEART FAILURE, 2014, 16 : 118 - 118
  • [48] Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation
    Zhang, Yu
    Deng, Yu-Lei
    Ma, Jian-Fang
    Zheng, Lan
    Hong, Zhen
    Wang, Zhi-Quan
    Sheng, Cheng-Yu
    Xiao, Qin
    Cao, Li
    Chen, Sheng-Di
    NEURODEGENERATIVE DISEASES, 2011, 8 (04) : 187 - 193
  • [49] Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants
    Roesner, Sabine
    Pardo, Luba M.
    Bertoli-Avella, Aida M.
    Skrahina, Volha
    Engel, Pierre
    Schroeder, Sabine
    Zielske, Susan
    Bonke, Valerie
    Kreth, Janett
    Westphal, Gina
    Reder, Felix
    Skobalj, Snezana
    Zielke, Susanne
    Bogdanovic, Xenia
    Grieger, Paula
    Rennecke, Joerg
    Skripuletz, Thomas
    Patten, Monica
    Assmus, Birgit
    Hahn, Katrin
    Rolfs, Arndt
    Bauer, Peter
    JOURNAL OF CLINICAL MEDICINE, 2024, 13 (20)
  • [50] Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation
    Adela Aguirre, Maria
    Mercedes Nucifora, Elsa
    Rugiero, Marcelo
    Sorroche, Patricia
    Soledad Saez, Maria
    Giunta, Diego Hernan
    Lourdes Posadas-Martinez, Maria
    Rafael Boietti, Bruno
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2017, 24 : 102 - 102
12345