-
1
-
-
34447271771
-
Genetic microheterogeneity of human transthyretin detected by IEF
-
Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, et al. Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis. 2007;28:2053-64.
-
(2007)
Electrophoresis
, vol.28
, pp. 2053-2064
-
-
Altland, K.1
Benson, M.D.2
Costello, C.E.3
Ferlini, A.4
Hazenberg, B.P.5
Hund, E.6
-
2
-
-
0242407579
-
Tabulation of human transthyretin (TTR) variants, 2003
-
Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid. 2003;10:160-84.
-
(2003)
Amyloid
, vol.10
, pp. 160-184
-
-
Connors, L.H.1
Lim, A.2
Prokaeva, T.3
Roskens, V.A.4
Costello, C.E.5
-
3
-
-
0025966199
-
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin
-
Maury CP, Baumann M. Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. Biochimica et Biophysica Acta. 1990;1096:84-6.
-
(1990)
Biochimica et Biophysica Acta
, vol.1096
, pp. 84-86
-
-
Maury, C.P.1
Baumann, M.2
-
4
-
-
0037030659
-
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis
-
Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346:1786-91.
-
(2002)
N Engl J Med
, vol.346
, pp. 1786-1791
-
-
Lachmann, H.J.1
Booth, D.R.2
Booth, S.E.3
Bybee, A.4
Gilbertson, J.A.5
Gillmore, J.D.6
-
5
-
-
33646241631
-
Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins
-
Comenzo RL, Zhou P, Fleisher M, Clark B, Teruya-Feldstein J. Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins. Blood. 2006;107:3489-91.
-
(2006)
Blood
, vol.107
, pp. 3489-3491
-
-
Comenzo, R.L.1
Zhou, P.2
Fleisher, M.3
Clark, B.4
Teruya-Feldstein, J.5
-
6
-
-
4344654840
-
Identification of transthyretin variants by sequential proteomic and genomic analysis
-
Bergen HR, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJ, et al. Identification of transthyretin variants by sequential proteomic and genomic analysis. Clin Chem. 2004;50:1544-52.
-
(2004)
Clin Chem
, vol.50
, pp. 1544-1552
-
-
Bergen, H.R.1
Zeldenrust, S.R.2
Butz, M.L.3
Snow, D.S.4
Dyck, P.J.5
Dyck, P.J.6
-
7
-
-
0029808637
-
Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation
-
Bergethon PR, Sabin TD, Lewis D, Simms RW, Cohen AS, Skinner M. Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation. Neurology. 1996;47:944-51.
-
(1996)
Neurology
, vol.47
, pp. 944-951
-
-
Bergethon, P.R.1
Sabin, T.D.2
Lewis, D.3
Simms, R.W.4
Cohen, A.S.5
Skinner, M.6
-
8
-
-
0030023632
-
Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum
-
Kishikawa M, Nakanishi T, Miyazaki A, Shimizu A, Nakazato M, Kangawa K, et al. Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum. J Mass Spectrom. 1996;31:112-4.
-
(1996)
J Mass Spectrom
, vol.31
, pp. 112-114
-
-
Kishikawa, M.1
Nakanishi, T.2
Miyazaki, A.3
Shimizu, A.4
Nakazato, M.5
Kangawa, K.6
-
9
-
-
0033045856
-
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient
-
Theberge R, Connors L, Skare J, Skinner M, Falk RH, Costello CE. A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. Amyloid. 1999;6:54-8.
-
(1999)
Amyloid
, vol.6
, pp. 54-58
-
-
Theberge, R.1
Connors, L.2
Skare, J.3
Skinner, M.4
Falk, R.H.5
Costello, C.E.6
-
10
-
-
0035018450
-
Transthyretin mutations in hyperthyroxinemia and amyloid diseases
-
Saraiva M. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat. 2001;17: 493-503.
-
(2001)
Hum Mutat
, vol.17
, pp. 493-503
-
-
Saraiva, M.1
-
11
-
-
0027465319
-
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain
-
Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet. 1993;3:252-5.
-
(1993)
Nat Genet
, vol.3
, pp. 252-255
-
-
Benson, M.D.1
Liepnieks, J.2
Uemichi, T.3
Wheeler, G.4
Correa, R.5
-
12
-
-
70350002094
-
Amyloidogenic potential of transthyretin variants: Insights from structural and computational analyses
-
Cendron L, Trovato A, Seno F, Folli C, Alfieri B, Zanotti G, et al. Amyloidogenic potential of transthyretin variants: Insights from structural and computational analyses. J Biol Chem. 2009;284:25832-41.
-
(2009)
J Biol Chem
, vol.284
, pp. 25832-25841
-
-
Cendron, L.1
Trovato, A.2
Seno, F.3
Folli, C.4
Alfieri, B.5
Zanotti, G.6
-
13
-
-
33947513919
-
Homozygous transthyretin mutation in an African American Male
-
Jacob E, Edwards W, Zucker M, D'Cruz C, Seshan S, Crow F, et al. Homozygous transthyretin mutation in an African American Male. J Mol Diagn. 2007;9: 127-31.
-
(2007)
J Mol Diagn
, vol.9
, pp. 127-131
-
-
Jacob, E.1
Edwards, W.2
Zucker, M.3
D'Cruz, C.4
Seshan, S.5
Crow, F.6
-
14
-
-
67149119593
-
Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: Identification of three novel mutations in the APOA1 gene
-
Eriksson M, Schonland S, Yumlu S, Hegenbart U, von Hutten H, Gioeva Z, et al. Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: Identification of three novel mutations in the APOA1 gene. J Mol Diagn. 2009;11:257-62.
-
(2009)
J Mol Diagn
, vol.11
, pp. 257-262
-
-
Eriksson, M.1
Schonland, S.2
Yumlu, S.3
Hegenbart, U.4
von Hutten, H.5
Gioeva, Z.6
-
15
-
-
80053283839
-
Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I
-
Rowczenio D, Dogan A, Theis J, Vrana J, Lachmann H, Wechalekar A, et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. Am J Pathol. 2011;179:1978-87.
-
(2011)
Am J Pathol
, vol.179
, pp. 1978-1987
-
-
Rowczenio, D.1
Dogan, A.2
Theis, J.3
Vrana, J.4
Lachmann, H.5
Wechalekar, A.6
-
17
-
-
1642463017
-
Polymorphisms of mouse apolipoprotein A-II: seven alleles found among 41 inbred strains of mice
-
Kitagawa K, Wang J, Mastushita T, Kogishi K, Hosokawa M, Fu X, et al. Polymorphisms of mouse apolipoprotein A-II: seven alleles found among 41 inbred strains of mice. Amyloid. 2003;10:207-14.
-
(2003)
Amyloid
, vol.10
, pp. 207-214
-
-
Kitagawa, K.1
Wang, J.2
Mastushita, T.3
Kogishi, K.4
Hosokawa, M.5
Fu, X.6
-
18
-
-
0022432224
-
The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization
-
Lackner KJ, Law SW, Brewer Jr HB. The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization. Nucl Acids Res. 1985;13: 4597-608.
-
(1985)
Nucl Acids Res
, vol.13
, pp. 4597-4608
-
-
Lackner, K.J.1
Law, S.W.2
Brewer, H.B.3
-
19
-
-
85028848584
-
-
[Computer Software]. Version 2.5.2011. Rouen, France: Interactive Biosoftware
-
Alamut ®. [Computer Software]. Version 2.5.2011. Rouen, France: Interactive Biosoftware; 2011. Available at http://www.interactive-biosoftware.com/alamut.html.
-
(2011)
-
-
-
20
-
-
0026569069
-
The extracellular actinscavenger system and actin toxicity
-
Lee WM, Galbraith RM. The extracellular actinscavenger system and actin toxicity. N Engl J Med. 1992;326:1335-41.
-
(1992)
N Engl J Med
, vol.326
, pp. 1335-1341
-
-
Lee, W.M.1
Galbraith, R.M.2
-
21
-
-
0026936594
-
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
-
de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CP, et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet. 1992;2:157-60.
-
(1992)
Nat Genet
, vol.2
, pp. 157-160
-
-
de la Chapelle, A.1
Tolvanen, R.2
Boysen, G.3
Santavy, J.4
Bleeker-Wagemakers, L.5
Maury, C.P.6
-
22
-
-
0015806355
-
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy
-
Meretoja J. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet. 1973;4:173-85.
-
(1973)
Clin Genet
, vol.4
, pp. 173-185
-
-
Meretoja, J.1
-
23
-
-
0028567731
-
Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment
-
Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L. Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet. 1994;3:2223-39.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2223-2239
-
-
Paunio, T.1
Kangas, H.2
Kalkkinen, N.3
Haltia, M.4
Palo, J.5
Peltonen, L.6
-
24
-
-
0025779730
-
Gelsolin-related amyloidosis: Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin
-
Maury CP. Gelsolin-related amyloidosis: Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. J Clin Invest. 1991;87:1195-9.
-
(1991)
J Clin Invest
, vol.87
, pp. 1195-1199
-
-
Maury, C.P.1
-
25
-
-
0031468862
-
Renal amyloidosis with a frame shift mutation in fibrinogen Aalpha-chain gene producing a novel amyloid protein
-
Hamidi Asl L, Liepnieks JJ, Uemichi T, Rebibou JM, Justrabo E, Droz D, et al. Renal amyloidosis with a frame shift mutation in fibrinogen Aalpha-chain gene producing a novel amyloid protein. Blood. 1997;90: 4799-805.
-
(1997)
Blood
, vol.90
, pp. 4799-4805
-
-
Hamidi Asl, L.1
Liepnieks, J.J.2
Uemichi, T.3
Rebibou, J.M.4
Justrabo, E.5
Droz, D.6
-
26
-
-
58149100172
-
Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain
-
Mourad G, Delabre JP, Garrigue V. Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. N Engl J Med. 2008;359:2847-8.
-
(2008)
N Engl J Med
, vol.359
, pp. 2847-2848
-
-
Mourad, G.1
Delabre, J.P.2
Garrigue, V.3
-
27
-
-
0029916231
-
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis
-
Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD. A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. Blood. 1996;87:4197-203.
-
(1996)
Blood
, vol.87
, pp. 4197-4203
-
-
Uemichi, T.1
Liepnieks, J.J.2
Yamada, T.3
Gertz, M.A.4
Bang, N.5
Benson, M.D.6
-
28
-
-
0028211154
-
Hereditary renal amyloidosis with a novel variant fibrinogen
-
Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. 1994;93:731-6.
-
(1994)
J Clin Invest
, vol.93
, pp. 731-736
-
-
Uemichi, T.1
Liepnieks, J.J.2
Benson, M.D.3
-
29
-
-
85028833959
-
-
[Medical Genetics Information Resource (online database)]. Lysozyme; LYZ. University of Washington, Seattle, WA,Accessed 10 Mar
-
GeneTests [Medical Genetics Information Resource (online database)]. Lysozyme; LYZ. University of Washington, Seattle, WA, http://www.genetests.org. Accessed 10 Mar 2011.
-
(2011)
-
-
-
30
-
-
14644390250
-
Underdiagnosed amyloidosis: amyloidosis of lysozyme variant
-
Granel B, Serratrice J, Disdier P, Weiller PJ, Valleix S, Grateau G, et al. Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. Am J Med. 2005;118: 321-2.
-
(2005)
Am J Med
, vol.118
, pp. 321-322
-
-
Granel, B.1
Serratrice, J.2
Disdier, P.3
Weiller, P.J.4
Valleix, S.5
Grateau, G.6
-
31
-
-
0036788349
-
A family with gastrointestinal amyloidosis associated with variant lysozyme
-
Granel B, Serratrice J, Valleix S, Grateau G, Droz D, Lafon J, et al. A family with gastrointestinal amyloidosis associated with variant lysozyme. Gastroenterology. 2002;123:1346-9.
-
(2002)
Gastroenterology
, vol.123
, pp. 1346-1349
-
-
Granel, B.1
Serratrice, J.2
Valleix, S.3
Grateau, G.4
Droz, D.5
Lafon, J.6
-
32
-
-
0037792997
-
Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg
-
Yazaki M, Liepnieks JJ, Barats MS, Cohen AH, Benson MD. Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. Kidney Int. 2003;64:11-6.
-
(2003)
Kidney Int
, vol.64
, pp. 11-16
-
-
Yazaki, M.1
Liepnieks, J.J.2
Barats, M.S.3
Cohen, A.H.4
Benson, M.D.5
-
33
-
-
77951088925
-
LECT2 amyloidosis
-
Benson MD. LECT2 amyloidosis. Kidney Int. 2010;77:757-9.
-
(2010)
Kidney Int
, vol.77
, pp. 757-759
-
-
Benson, M.D.1
-
34
-
-
46249120706
-
Leukocyte chemotactic factor 2: a novel renal amyloid protein
-
Benson MD, James S, Scott K, Liepnieks JJ, Kluve-Beckerman B. Leukocyte chemotactic factor 2: a novel renal amyloid protein. Kidney Int. 2008;74: 218-22.
-
(2008)
Kidney Int
, vol.74
, pp. 218-222
-
-
Benson, M.D.1
James, S.2
Scott, K.3
Liepnieks, J.J.4
Kluve-Beckerman, B.5
-
35
-
-
78649444572
-
Leukocyte chemotactic factor 2 (LECT2)-associated renal amyloidosis: a case series
-
Murphy CL, Wang S, Kestler D, Larsen C, Benson D, Weiss DT, et al. Leukocyte chemotactic factor 2 (LECT2)-associated renal amyloidosis: a case series. Am J Kidney Dis. 2010;56:1100-7.
-
(2010)
Am J Kidney Dis
, vol.56
, pp. 1100-1107
-
-
Murphy, C.L.1
Wang, S.2
Kestler, D.3
Larsen, C.4
Benson, D.5
Weiss, D.T.6
-
36
-
-
0032520903
-
Molecular cloning, structural characterization, and chromosomal mapping of the human LECT2 gene
-
Yamagoe S, Kameoka Y, Hashimoto K, Mizuno S, Suzuki K. Molecular cloning, structural characterization, and chromosomal mapping of the human LECT2 gene. Genomics. 1998;48:324-9.
-
(1998)
Genomics
, vol.48
, pp. 324-329
-
-
Yamagoe, S.1
Kameoka, Y.2
Hashimoto, K.3
Mizuno, S.4
Suzuki, K.5
-
37
-
-
77951094007
-
Prevalence and morphology of leukocyte chemotactic factor 2-associated amyloid in renal biopsies
-
Larsen CP, Walker PD, Weiss DT, Solomon A. Prevalence and morphology of leukocyte chemotactic factor 2-associated amyloid in renal biopsies. Kidney Int. 2010;77:816-9.
-
(2010)
Kidney Int
, vol.77
, pp. 816-819
-
-
Larsen, C.P.1
Walker, P.D.2
Weiss, D.T.3
Solomon, A.4
|