-
1
-
-
0030830019
-
Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid
-
Kelly JW, Colon W, Lai Z, Lashuel HA, McCulloch J, et al. (1997) Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Adv Protein Chem 50: 161-181.
-
(1997)
Adv Protein Chem
, vol.50
, pp. 161-181
-
-
Kelly, J.W.1
Colon, W.2
Lai, Z.3
Lashuel, H.A.4
McCulloch, J.5
-
2
-
-
81255211674
-
Familial amyloid polyneuropathy
-
Plante-Bordeneuve V, Said G, (2011) Familial amyloid polyneuropathy. Lancet Neurol 10: 1086-1097.
-
(2011)
Lancet Neurol
, vol.10
, pp. 1086-1097
-
-
Plante-Bordeneuve, V.1
Said, G.2
-
3
-
-
1542543331
-
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families
-
Plante-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, et al. (2003) Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 40: e120.
-
(2003)
J Med Genet
, vol.40
-
-
Plante-Bordeneuve, V.1
Carayol, J.2
Ferreira, A.3
Adams, D.4
Clerget-Darpoux, F.5
-
4
-
-
54249138124
-
Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
-
Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellie C, et al. (2008) Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 15: 181-186.
-
(2008)
Amyloid
, vol.15
, pp. 181-186
-
-
Hellman, U.1
Alarcon, F.2
Lundgren, H.E.3
Suhr, O.B.4
Bonaiti-Pellie, C.5
-
5
-
-
84871099309
-
The long-term effects of tafamidis for the treatment of transthyretin type familial amyloid polyneuropathy
-
Coelho T ML, Martins A, Waddington Cruz M, Planté-Bordeneuve V, Suhr OB, et al. (2011) The long-term effects of tafamidis for the treatment of transthyretin type familial amyloid polyneuropathy. VIIIth International Symposium on Familial Amyloidotic Polyneuropathy.
-
(2011)
VIIIth International Symposium on Familial Amyloidotic Polyneuropathy
-
-
Coelho, T.M.L.1
Martins, A.2
Waddington Cruz, M.3
Planté-Bordeneuve, V.4
Suhr, O.B.5
-
6
-
-
84865183417
-
Phase I safety, pharmacokinetic and pharmacodynamic results for ALN-TTR01, a novel RNAi therapeutic for the treatment of transthyretin amyloidosis
-
Kumamoto, Japan
-
Coelho T SO, Adams D, Lozeron P, Hawkins P, Mant T, et al. (2011) Phase I safety, pharmacokinetic and pharmacodynamic results for ALN-TTR01, a novel RNAi therapeutic for the treatment of transthyretin amyloidosis. VIIIth International Symposium on Familial Amyloidotic Polyneuropathy. Kumamoto, Japan.
-
(2011)
VIIIth International Symposium on Familial Amyloidotic Polyneuropathy
-
-
Coelho, T.S.O.1
Adams, D.2
Lozeron, P.3
Hawkins, P.4
Mant, T.5
-
8
-
-
78049432091
-
The microRNA pathway and cancer
-
Kwak PB, Iwasaki S, Tomari Y, (2010) The microRNA pathway and cancer. Cancer Sci 101: 2309-2315.
-
(2010)
Cancer Sci
, vol.101
, pp. 2309-2315
-
-
Kwak, P.B.1
Iwasaki, S.2
Tomari, Y.3
-
9
-
-
80755187828
-
A functional variant at the miR-184 binding site in TNFAIP2 and risk of squamous cell carcinoma of the head and neck
-
Liu Z, Wei S, Ma H, Zhao M, Myers JN, et al. (2011) A functional variant at the miR-184 binding site in TNFAIP2 and risk of squamous cell carcinoma of the head and neck. Carcinogenesis 32: 1668-1674.
-
(2011)
Carcinogenesis
, vol.32
, pp. 1668-1674
-
-
Liu, Z.1
Wei, S.2
Ma, H.3
Zhao, M.4
Myers, J.N.5
-
10
-
-
84871068668
-
Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
-
Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, et al. (2011) Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J.
-
(2011)
Eur Heart J
-
-
Amin, A.S.1
Giudicessi, J.R.2
Tijsen, A.J.3
Spanjaart, A.M.4
Reckman, Y.J.5
-
11
-
-
40749145370
-
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein
-
Wang G, van der Walt JM, Mayhew G, Li YJ, Zuchner S, et al. (2008) Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet 82: 283-289.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 283-289
-
-
Wang, G.1
van der Walt, J.M.2
Mayhew, G.3
Li, Y.J.4
Zuchner, S.5
-
12
-
-
79960563794
-
Sequence variants within the 3′-UTR of the COL5A1 gene alters mRNA stability: implications for musculoskeletal soft tissue injuries
-
Laguette MJ, Abrahams Y, Prince S, Collins M, (2011) Sequence variants within the 3′-UTR of the COL5A1 gene alters mRNA stability: implications for musculoskeletal soft tissue injuries. Matrix Biol 30: 338-345.
-
(2011)
Matrix Biol
, vol.30
, pp. 338-345
-
-
Laguette, M.J.1
Abrahams, Y.2
Prince, S.3
Collins, M.4
-
13
-
-
77956470387
-
A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers
-
Olsson M, Norgren N, Obayashi K, Plante-Bordeneuve V, Suhr OB, et al. (2010) A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med Genet 11: 130.
-
(2010)
BMC Med Genet
, vol.11
, pp. 130
-
-
Olsson, M.1
Norgren, N.2
Obayashi, K.3
Plante-Bordeneuve, V.4
Suhr, O.B.5
-
14
-
-
14044249894
-
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden
-
Soares ML, Coelho T, Sousa A, Holmgren G, Saraiva MJ, et al. (2004) Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur J Hum Genet 12: 225-237.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 225-237
-
-
Soares, M.L.1
Coelho, T.2
Sousa, A.3
Holmgren, G.4
Saraiva, M.J.5
-
15
-
-
0027419838
-
Diagnostic radioimmunoassay and DNA-analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene
-
Holmgren G, Lundgren E, Kangawa K, Kurihara T, Matsukura S, et al. (1993) Diagnostic radioimmunoassay and DNA-analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene. Acta Neurol Scand 87: 124-127.
-
(1993)
Acta Neurol Scand
, vol.87
, pp. 124-127
-
-
Holmgren, G.1
Lundgren, E.2
Kangawa, K.3
Kurihara, T.4
Matsukura, S.5
-
16
-
-
0031850377
-
Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis
-
Suhr OB, Ando Y, Ohlsson PI, Olofsson A, Andersson K, et al. (1998) Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. Eur J Clin Invest 28: 687-692.
-
(1998)
Eur J Clin Invest
, vol.28
, pp. 687-692
-
-
Suhr, O.B.1
Ando, Y.2
Ohlsson, P.I.3
Olofsson, A.4
Andersson, K.5
-
17
-
-
66449135352
-
SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy
-
Ueda M, Misumi Y, Mizuguchi M, Nakamura M, Yamashita T, et al. (2009) SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin Chem 55: 1223-1227.
-
(2009)
Clin Chem
, vol.55
, pp. 1223-1227
-
-
Ueda, M.1
Misumi, Y.2
Mizuguchi, M.3
Nakamura, M.4
Yamashita, T.5
-
18
-
-
34249076067
-
Endoplasmic reticulum quality control regulates the fate of transthyretin variants in the cell
-
Sato T, Susuki S, Suico MA, Miyata M, Ando Y, et al. (2007) Endoplasmic reticulum quality control regulates the fate of transthyretin variants in the cell. EMBO J 26: 2501-2512.
-
(2007)
EMBO J
, vol.26
, pp. 2501-2512
-
-
Sato, T.1
Susuki, S.2
Suico, M.A.3
Miyata, M.4
Ando, Y.5
-
19
-
-
0029680344
-
Metabolism of normal and Met30 transthyretin
-
Hanes D, Zech LA, Murrell J, Benson MD, (1996) Metabolism of normal and Met30 transthyretin. Adv Food Nutr Res 40: 149-155.
-
(1996)
Adv Food Nutr Res
, vol.40
, pp. 149-155
-
-
Hanes, D.1
Zech, L.A.2
Murrell, J.3
Benson, M.D.4
-
20
-
-
81255201286
-
The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry
-
Ribeiro-Silva C, Gilberto S, Gomes RA, Mateus E, Monteiro E, et al. (2011) The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry. Amyloid 18: 191-199.
-
(2011)
Amyloid
, vol.18
, pp. 191-199
-
-
Ribeiro-Silva, C.1
Gilberto, S.2
Gomes, R.A.3
Mateus, E.4
Monteiro, E.5
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