The protein encoded by the TTR gene is transthyretin, a carrier protein. It transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in plasma. The mature protein is a tetramer of identical subunits (homotetramer). Mutations may cause various diseases characterized by amyloid deposition. Inheritance is autosomal dominant but exhibits a great deal of variability.
4 identical subunits of the translated protein form a homotetramer, which is secreted into the blood stream and cerebrospinal fluid.
The protein is mainly synthesized in in liver, choroid plexus, retinal pigment epithelium, and pancreas and secreted into plasma and cerebrospinal fluid.
Many amyloidotic phenotypes can be distinguished: familial amyloid polyneuropathy (FAP), amyloid cardiomyopathy (FAC), senile systemic amyloidosis (SSA), amyloidotic vitreous opacities, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, and carpal tunnel syndrome. As this protein is involved in thyroid hormone transport a thyroid-related phenotype also exists: euthyroid hyperthyroxinaemia.
Mutations cause protein misfolding. Those misfolded proteins aggregate in extracellular space. Those amyloid deposits that impair organ function.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. |
2. |
Sack GH et al. (1981) Three forms of dominant amyloid neuropathy. |
3. |
Justice MJ et al. (1992) A molecular genetic linkage map of mouse chromosome 18 reveals extensive linkage conservation with human chromosomes 5 and 18. |
4. |
Uemichi T et al. (1999) Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. |
5. |
Hund E et al. (2001) Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. |
6. |
None (2001) Transthyretin mutations in hyperthyroxinemia and amyloid diseases. |
7. |
Ikeda S et al. (2002) Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. |
8. |
Blevins G et al. (2003) Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. |
9. |
None (1952) A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. |
10. |
Jacobson DR et al. (1992) Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. |
11. |
KAUFMAN HE et al. (1959) Vitreous opacities diagnostic of familial primary amyloidosis. |
12. |
Ray SS et al. (2004) A possible therapeutic target for Lou Gehrig's disease. |
13. |
Sekijima Y et al. (2005) The biological and chemical basis for tissue-selective amyloid disease. |
14. |
Liu YT et al. (2008) Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression. |
15. |
None (1991) Inherited amyloidosis. |
17. |
Hagiwara K et al. (2009) Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr. |
18. |
Yang NC et al. (2010) Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. |
19. |
Westermark P et al. (1990) Fibril in senile systemic amyloidosis is derived from normal transthyretin. |
20. |
Ikeda S et al. (1987) Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. |
21. |
Sequeiros J et al. (1987) Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade). |
22. |
Uitti RJ et al. (1988) Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features. |
23. |
Holmgren G et al. (1988) Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. |
24. |
Furuya H et al. (1987) Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs. |
25. |
Mahloudji M et al. (1969) The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type). |
26. |
Wong VG et al. (1967) Primary familial amyloidosis. |
27. |
Saraiva MJ et al. (1984) Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). |
28. |
None (1981) Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin. |
29. |
Dalakas MC et al. (1981) Amyloid in hereditary amyloid polyneuropathy is related to prealbumin. |
30. |
Goren H et al. (1980) Familial oculoleptomeningeal amyloidosis. |
31. |
Ducla-Soares J et al. (1994) Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. |
32. |
Holmgren G et al. (1994) Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. |
33. |
Coelho T et al. (1994) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. |
34. |
Drugge U et al. (1993) Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. |
35. |
Vidal R et al. (1996) Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) |
36. |
Herrick MK et al. (1996) Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. |
37. |
Garzuly F et al. (1996) Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) |
38. |
Jacobson DR et al. (1997) Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. |
39. |
Petersen RB et al. (1997) Transthyretin amyloidosis: a new mutation associated with dementia. |
40. |
Brett M et al. (1999) Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. |
41. |
Soares M et al. (1999) Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions. |
42. |
Munar-Qués M et al. (1999) Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. |
44. |
Terazaki H et al. (1999) A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. |
45. |
None (1979) Some unsolved problems in the amyloid diseases. |
46. |
Ferlini A et al. (2000) Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. |
47. |
Eneqvist T et al. (2000) The beta-slip: a novel concept in transthyretin amyloidosis. |
48. |
Munar-Qués M et al. (2000) Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome. |
49. |
Ellie E et al. (2001) Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). |
50. |
Hammarström P et al. (2001) Trans-suppression of misfolding in an amyloid disease. |
52. |
None (2001) Progress in transthyretin fibrillogenesis research strengthens the amyloid hypothesis. |
53. |
Jiang X et al. (2001) The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. |
54. |
Lessell S et al. (1975) Scalloped pupils in familial amyloidosis. |
55. |
Murakami A et al. (2002) Transthyretin Ser-44 mutation in a case with vitreous amyloidosis. |
56. |
Koike H et al. (2002) Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. |
57. |
Hammarström P et al. (2003) Prevention of transthyretin amyloid disease by changing protein misfolding energetics. |
58. |
Koga T et al. (2003) Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy. |
59. |
Kimura A et al. (2003) Secondary glaucoma in patients with familial amyloidotic polyneuropathy. |
60. |
Askanas V et al. (2003) Transthyretin Val122Ile, accumulated Abeta, and inclusion-body myositis aspects in cultured muscle. |
61. |
Almeida MR et al. (1992) Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. |
62. |
Ueno S et al. (1992) Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. |
63. |
Takahashi N et al. (1992) Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. |
64. |
BLOCK WD et al. (1956) Familial primary systemic amyloidosis: an experimental, genetic and clinical study. |
65. |
BLOCK WD et al. (1956) Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. |
67. |
Uemichi T et al. (1992) Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family. |
68. |
Alves IL et al. (1992) Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants. |
69. |
Scrimshaw BJ et al. (1992) A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding. |
70. |
Jacobson DR et al. () Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred. |
71. |
Uemichi T et al. (1992) A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. |
72. |
FREDERIKSEN T et al. (1962) Familial primary amyloidosis with severe amyloid heart disease. |
73. |
Qiu H et al. (1992) Chromosomal localization of the mouse prealbumin gene (Ttr) by in situ hybridization. |
74. |
Izumoto S et al. (1992) Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. |
75. |
SCHLESINGER AS et al. (1962) Peripheral neuropathy in familial primary amyloidosis. |
77. |
Ikeda S et al. (1992) Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. |
78. |
Murakami T et al. (1992) A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. |
79. |
Nishi H et al. (1992) Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. |
80. |
Jones LA et al. (1992) Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. |
81. |
Oide T et al. (2004) Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report. |
82. |
Dorus S et al. (2004) Accelerated evolution of nervous system genes in the origin of Homo sapiens. |
83. |
Soares ML et al. (2005) Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. |
84. |
Saraiva MJ et al. (1992) A new transthyretin mutation associated with amyloid cardiomyopathy. |
85. |
Holmgren G et al. (2005) Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. |
86. |
Nordvåg BY et al. (1992) Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. |
87. |
None (1992) Hereditary amyloidosis and cardiomyopathy. |
88. |
Ranløv I et al. (1992) A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. |
89. |
Saeki Y et al. (1992) A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker. |
90. |
Saeki Y et al. (1991) New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. |
91. |
Staunton H et al. (1991) Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant. |
92. |
None (1992) A specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks. |
93. |
Ii S et al. (1992) From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease. |
94. |
Murakami T et al. (1992) A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. |
95. |
Sarkar G et al. (1991) Haplotyping by double PCR amplification of specific alleles. |
96. |
Zaros C et al. (2008) On the origin of the transthyretin Val30Met familial amyloid polyneuropathy. |
97. |
Saraiva MJ et al. (1991) Molecular analyses of an acidic transthyretin Asn 90 variant. |
98. |
Jones LA et al. (1991) Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. |
99. |
Morris M et al. (1991) Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. |
101. |
None (1948) The problem of anticipation in pedigrees of dystrophia myotonica. |
102. |
Harding J et al. (1991) A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. |
103. |
Buxbaum JN et al. (2009) Transthyretin: the servant of many masters. |
104. |
Almeida MR et al. (1990) Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30. |
105. |
Moses AC et al. (1990) A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. |
106. |
Satier F et al. (1990) Diagnosis of familial amyloidotic polyneuropathy in France. |
107. |
Skare JC et al. (1991) A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. |
108. |
Nichols WC et al. (1991) Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). |
109. |
Ii S et al. (1991) Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. |
110. |
Jacobson DR et al. (1991) Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population. |
111. |
Koeppen AH et al. (1990) Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule. |
112. |
Ueno S et al. (1990) A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. |
113. |
Skare J et al. (1990) Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. |
114. |
Saraiva MJ et al. (1990) Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant. |
115. |
Jacobson DR et al. (1990) A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. |
116. |
Mendell JR et al. (1990) Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified, genomic DNA. |
117. |
Ueno S et al. (1990) Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). |
118. |
Harats N et al. (1989) Hereditary amyloidosis: evidence against early amyloid deposition. |
119. |
Holt IJ et al. (1989) Molecular genetics of amyloid neuropathy in Europe. |
120. |
Skare JC et al. (1989) A new mutation causing familial amyloidotic polyneuropathy. |
121. |
Nichols WC et al. (1989) Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. |
122. |
None (1989) Mortality rate of amyloidosis in Japan: secular trends and geographical variations. |
124. |
Yoshioka K et al. (1989) Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val----Met mutation most common to the disease. |
125. |
Wallace MR et al. (1988) A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). |
126. |
Saraiva MJ et al. (1988) Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. |
127. |
Sasaki H et al. (1985) Presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques. |
128. |
Nakazato M et al. (1985) Childhood detection of familial amyloidotic polyneuropathy. |
129. |
Wallace MR et al. (1986) Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family. |
130. |
Wallace MR et al. (1988) Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. |
131. |
Holmgren G et al. (1988) Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis. |
132. |
Benson MD et al. (1985) Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I. |
133. |
Wallace MR et al. (1985) Localization of the human prealbumin gene to chromosome 18. |
134. |
Tsuzuki T et al. (1985) Structure of the human prealbumin gene. |
135. |
Wakasugi S et al. (1985) Structural comparisons between mouse and human prealbumin. |
136. |
Rubinow A et al. (1986) Scalloped pupils in familial amyloid polyneuropathy. |
137. |
Saraiva MJ et al. (1986) Presence of a plasma transthyretin (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin. |
139. |
Yoshioka K et al. (1986) Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy. |
140. |
Maeda S et al. (1986) Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy. |
141. |
Ochiai J et al. (1986) Nonfamilial prealbumin-type amyloid polyneuropathy. |
142. |
Sparkes RS et al. (1987) Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1. |
143. |
Benson MD et al. (1987) Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. |
144. |
Refetoff S et al. (1986) Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. |
145. |
Lalloz MR et al. (1987) Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family. |
146. |
Nordlie M et al. (1988) A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. |
147. |
Nakazato M et al. (1986) Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy before clinical onset. |
148. |
Olson LJ et al. (1987) Senile cardiac amyloidosis with myocardial dysfunction. Diagnosis by endomyocardial biopsy and immunohistochemistry. |
149. |
Strahler JR et al. (1987) Identification and characterization of a human transthyretin variant. |
150. |
Staunton H et al. (1987) Hereditary amyloid polyneuropathy in north west Ireland. |
151. |
Herbert J et al. (1986) Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award. |
152. |
Wallace MR et al. (1986) Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. |
153. |
Wada Y et al. (1986) Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy. |
154. |
Dwulet FE et al. (1986) Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). |
155. |
Saraiva MJ et al. (1986) Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. |
156. |
Saraiva MJ et al. (1985) Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type. Family studies on the transthyretin (prealbumin)-methionine-30 variant. |
157. |
Kyle RA et al. (1985) Primary systemic amyloidosis. Comparison of melphalan/prednisone versus colchicine. |
158. |
Whitehouse DB et al. (1985) Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing. |
159. |
Yoshioka K et al. (1986) Two RFLPs associated with the human prealbumin gene (PALB). |
160. |
Skinner M et al. (1985) Lowered prealbumin levels in patients with familial amyloid polyneuropathy (FAP) and their non-affected but at risk relatives. |
161. |
Sasaki H et al. (1985) Structure of the chromosomal gene for human serum prealbumin. |
162. |
Koeppen AH et al. () Familial amyloid polyneuropathy. |
164. |
Cohen AS et al. () Amyloidosis: current trends in its investigation. |
165. |
Fagerhol MK et al. (1967) The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera. |
166. |
Kanda Y et al. (1974) The amino acid sequence of human plasma prealbumin. |
167. |
None (1967) Amyloidosis. |
168. |
Araki S et al. (1968) Polyneuritic amyloidosis in a Japanese family. |
169. |
Andrade C et al. (1969) The genetic aspect of the familial amyloidotic polyneuropathy. Portuguese type of paramyloidosis. |
170. |
Fagerhol MK et al. (1965) Serum prealbumin: polymorphism in man. |
171. |
Fagerhol MK et al. (1966) Classification of human serum prealbumins after starch gel electrophoresis. |
172. |
Nakazato M et al. (1984) Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type). |
173. |
Mita S et al. (1984) Cloning and sequence analysis of cDNA for human prealbumin. |
174. |
Saraiva MJ et al. (1984) Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. |
176. |
Nakazato M et al. (1984) Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy. |
177. |
Pras M et al. (1981) A variant of prealbumin from amyloid fibrils in familial polyneuropathy of Jewish origin. |
178. |
Saraiva MJ et al. (1983) Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. |
179. |
Shoji S et al. (1981) Amyloid fibril protein in familial amyloid polyneuropathy. |
180. |
Rubinow A et al. (1981) Skin involvement in familial amyloidotic polyneuropathy. |
181. |
Pras M et al. (1983) Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin. |
182. |
Julien J et al. (1983) [Familial amyloid neuropathies in 3 families of French origin]. |
183. |
Saraiva MJ et al. (1983) Studies on plasma transthyretin (prealbumin) in familial amyloidotic polyneuropathy, Portuguese type. |
184. |
Nakazato M et al. (1984) Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. |
185. |
Sasaki H et al. (1984) Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques. |
186. |
Sakoda S et al. (1983) Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey. |
187. |
Dwulet FE et al. (1984) Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. |
188. |
Tawara S et al. (1983) Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). |
189. |
Steen L et al. (1983) Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms. |
190. |
Benson MD et al. (1983) Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis. |
191. |
Moses AC et al. (1982) Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin. |
192. |
Dwulet FE et al. (1983) Polymorphism of human plasma thyroxine binding prealbumin. |
193. |
Shirahama T et al. (1982) Senile cerebral amyloid. Prealbumin as a common constituent in the neuritic plaque, in the neurofibrillary tangle, and in the microangiopathic lesion. |
194. |
Skinner M et al. (1981) The prealbumin nature of the amyloid protein in familial amyloid polyneuropathy (FAP)-swedish variety. |
195. |
Kito S et al. (1980) Studies on familial amyloid polyneuropathy in Ogawa Village, Japan. |
196. |
None (1995) Transthyretin mutations in health and disease. |
197. |
Jacobson DR et al. (1995) Transthyretin Ser 6 gene frequency in individuals without amyloidosis. |
198. |
Yamamoto K et al. (1994) Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro). |
199. |
Uemichi T et al. (1994) Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). |
200. |
Ferlini A et al. (1994) A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. |
201. |
Hesse A et al. (1993) Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. |
202. |
Benson MD et al. (1993) A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. |
203. |
Benson MD et al. (1993) A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. |
204. |
Alves IL et al. (1993) Thyroxine binding in a TTR Met 119 kindred. |
205. |
Yasuda T et al. (1994) Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). |
206. |
McCutchen SL et al. (1993) Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity. |
207. |
Almeida Mdo R et al. (1993) Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. |
208. |
Murakami T et al. (1994) Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. |
209. |
Shiomi K et al. (1993) A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. |
210. |
Episkopou V et al. (1993) Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone. |
211. |
Ii S et al. (1993) The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. |
213. |
Tashima K et al. (1995) Change in the age of onset in patients with familial amyloidotic polyneuropathy type I. |
214. |
Reilly MM et al. (1995) Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77). |
215. |
Jenne DE et al. (1996) A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis. |
216. |
Jacobson DR et al. (1996) Revised transthyretin Ile 122 allele frequency in African-Americans. |
217. |
Ferlini A et al. (1996) Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. |
218. |
Refetoff S et al. (1996) A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. |
219. |
Jacobson DR et al. (1997) Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis. |
220. |
None (1997) Aging, amyloid, and cardiomyopathy. |
221. |
Uemichi T et al. (1997) A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy. |
222. |
Ando E et al. (1997) Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up. |
223. |
Yamamoto K et al. (1998) A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. |
224. |
Blanco-Jerez CR et al. (1998) Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. |
225. |
Myers TJ et al. (1998) Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites. |
226. |
Klein CJ et al. (1998) Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy. |
227. |
Utsugisawa K et al. (1998) Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family. |
228. |
Orphanet article Orphanet ID 120337 |
229. |
NCBI article NCBI 7276 |
230. |
OMIM.ORG article Omim 176300 |
231. |
Wikipedia article Wikipedia EN (Transthyretin) |