| 1 | STRA6, TTR
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| Transthyretin blocks retinol uptake and cell signaling by the holo-retinol-binding protein receptor STRA6.
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| Berry DC, Croniger CM, Ghyselinck NB, Noy N.
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| Mol Cell Biol 32(19):3851-9. doi: 10.1128/MCB.00775-12. Epub 2012 Jul 23.
2012
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| 2 | TTR
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| Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR amyloid.
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| Eriksson M, Büttner J, Todorov T, Yumlu S, Schönland S, Hegenbart U, Kristen AV, Dengler T, Lohse P, Helmke B, Schmidt H, Röcken C.
|
| Am J Surg Pathol 33(1):58-65.
2009
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| 3 | APF, TTR
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| Clinical and genetic analysis of three families with familiar amyloid polyneuropathy.
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| Li YF, Ng H, Sun IU, Leong W.
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| Chin Med Sci J 23(4):230-3.
2008
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| 4 | TTR
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| Structural and mutational analyses of protein-protein interactions between transthyretin and retinol-binding protein.
|
| Zanotti G, Folli C, Cendron L, Alfieri B, Nishida SK, Gliubich F, Pasquato N, Negro A, Berni R.
|
| FEBS J 275(23):5841-54.
2008
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| 5 | APF, TTR
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| Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus.
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| Kato-Motozaki Y, Ono K, Shima K, Morinaga A, Machiya T, Nozaki I, Shibata-Hamaguchi A, Furukawa Y, Yanase D, Ishida C, Sakajiri K, Yamada M.
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| J Neurol Sci 270(1-2):133-40. Epub 2008 Apr 14.
2008
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| 6 | TTR
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| Serum levels of variants of transthyretin down-regulation in cholangiocarcinoma.
|
| Liu L, Wang J, Liu B, Dai S, Wang X, Chen J, Huang L, Xiao X, He D.
|
| J Cell Biochem 104(3):745-55.
2008
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| 7 | MT1A, MT2A, TTR
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| Transthyretin interacts with metallothionein 2.
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| Gonçalves I, Quintela T, Baltazar G, Almeida MR, Saraiva MJ, Santos CR.
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| Biochemistry 47(8):2244-51. Epub 2008 Feb 1.
2008
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| 8 | TTR
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| Transthyretin is not expressed by dorsal root ganglia cells.
|
| Sousa MM, Saraiva MJ.
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| Exp Neurol 214(2):362-5. Epub 2008 Sep 16.
2008
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| 9 | PARK7, TTR
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| DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy.
|
| Koide-Yoshida S, Niki T, Ueda M, Himeno S, Taira T, Iguchi-Ariga SM, Ando Y, Ariga H.
|
| Int J Mol Med 19(6):885-93.
2007
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| 10 | APCS, APF, RBP4, TTR
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| Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.
|
| Soares ML, Coelho T, Sousa A, Batalov S, Conceicao I, Sales-Luis ML, Ritchie MD, Williams SM, Nievergelt CM, Schork NJ, Saraiva MJ, Buxbaum JN.
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| Hum Mol Genet 14(4):543-53. Epub 2005 Jan 13. 2005
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| 11 | TTR
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| Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein.
|
| Folli C, Viglione S, Busconi M, Berni R.
|
| Biochem Biophys Res Commun 336(4):1017-22. 2005
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| 12 | TTR
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| Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
|
| Saraiva MJ.
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| Hum Mutat 17(6):493-503. 2001
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| 13 | APF, TTR
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| Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions.
|
| Soares M, et al.
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| Hum Genet 104(6):480-5. 1999
|
| 14 | AMYL7, TTR
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| Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.
|
| Uemichi T, Uitti RJ, Koeppen AH, Donat JR, Benson MD.
|
| Arch Neurol 56(9):1152-5 1999
|
| 15 | SSCA, TTR
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| Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.
|
| Jacobson DR, et al.
|
| Hum Mutat 9 : 83-85. 1997
|
| 16 | SSCA, TTR
|
| Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black americans.
|
| Jacobson DR, et al.
|
| N Engl J Med 336 : 466-473. 1997
|
| 17 | AMYL7, TTR
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| Transthyretin amyloidosis : a new mutation associated with dementia.
|
| Petersen RB, et al.
|
| Ann Neurol 41 : 307-313. 1997
|
| 18 | APF, TTR
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| A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy.
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| Goebel HH, Seddigh S, Hopf HC, Uemichi T, Benson MD, McKusick VA.
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| Neuromuscul Disord 7(4):229-30. 1997
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| 19 | FACM, TTR
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| Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation.
|
| Sadamatsu K, Hayashi Y, Nakamura M.
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| Int J Cardiol 61(2):151-5. 1997
|
| 20 | TTR, APF
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| Homozygosity and heterozygosity for the transthyretin Leu64 mutation : clinical, biochemical and molecular findings.
|
| Ferlini A, et al.
|
| Clin Genet 49 : 10-14. 1996
|
| 21 | TTR
|
| Transthyretin Ser 6 gene frequency in individuals without amyloidosis.
|
| Jacobson DR, et al.
|
| Hum Genet 95 : 308-312. 1995
|
| 22 | TTR
|
| Transthyretin mutations in health and disease.
|
| Mascarenhas Saraiva MJ.
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| Hum Mutat 5 : 191-196. 1995
|
| 23 | TTR, APF
|
| A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
|
| Uemichi T, et al.
|
| J Med Genet 32 : 279-281. 1995
|
| 24 | APF, TTR
|
| A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.
|
| Coelho T, et al.
|
| J Med Genet 31 : 293-299. 1994
|
| 25 | FACM, TTR
|
| Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.
|
| Jacobson DR, et al.
|
| Hum Mutat 3 : 399-401. 1994
|
| 26 | APF, TTR
|
| Amyloid polyneuropathy in two German-American families : a new transthyretin variant (Val 107).
|
| Uemichi T, et al.
|
| J Med Genet 31 : 416-417. 1994
|
| 27 | APF, TTR
|
| A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient SKO with familial amyloidotic polyneuropathy.
|
| Jacobson DR, et al.
|
| Hum Mutat 3 : 254-260. 1994
|
| 28 | APF, FACM, TTR
|
| A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
|
| Ferlini A, et al.
|
| Hum Mutat 4 : 61-64. 1994
|
| 29 | APF, TTR
|
| Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
|
| Skare J, et al.
|
| Clin Genet 45 : 281-284. 1994
|
| 30 | APF, TTR
|
| A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
|
| Benson MD, et al.
|
| J Med Genet 30 : 120-122. 1993
|
| 31 | APF, TTR
|
| A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
|
| Benson MD, et al.
|
| J Med Genet 30 : 117-119. 1993
|
| 32 | TTR, APF
|
| A basic transthyretin variant (GLU61-LYS) causes familial amyloidotic polyneuropathy : protein and DNA sequencing and PCR-induced mutation restriction analysis.
|
| Shiomi K, et al.
|
| Biochem Biophys Res Commun 194 : 1090-1096. 1993
|
| 33 | TTR, APF
|
| Transthyretin ALA 71 : a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.
|
| Almeida MDR, et al.
|
| Hum Mutat 2 : 420-421. 1993
|
| 34 | FACM, TTR
|
| Retrospective molecular detection of transhyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.
|
| Nordvag BY, et al.
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| Hum Genet 92 : 265-268. 1993
|
| 35 | TTR
|
| Modifications of transthyretin in amyloid fibrils : analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation.
|
| Thylen C, et al.
|
| EMBO J 12 : 743-748. 1993
|
| 36 | TTR
|
| From molecular variant to disease : initial steps in evaluating the association of transthyretin M119 with disease.
|
| Ii S, et al.
|
| Am J Hum Genet 50 : 29-41. 1992
|
| 37 | TTR
|
| Homozygosity for the transthyretin-Met30- gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences.
|
| Holmgren G, et al.
|
| Clin Genet 41 : 39-41. 1992
|
| 38 | TTR
|
| A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.
|
| Murakami T, et al.
|
| Biochem Biophys Res Commun 182 : 520-526. 1992
|
| 39 | TTR
|
| A new transthyretin mutation associated with amyloid cardiomyopathy.
|
| Mascarenhas Saraiva MJ, et al.
|
| Am J Hum Genet 50 : 1027-1030. 1992
|
| 40 | TTR
|
| Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
| Jacobson DR, et al.
|
| Hum Genet 89 : 353-356. 1992
|
| 41 | TTR
|
| Identification of a novel transthyretin variant (Val30-Leu) associated with familial amyloidotic polyneuropathy.
|
| Nakazato M, et al.
|
| FEBS Lett 306 : 206-208. 1992
|
| 42 | TTR
|
| A novel mutant (transthyrethin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.
|
| Saeki Y, et al.
|
| FEBS Lett 308 : 35-37. 1992
|
| 43 | TTR
|
| Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.
|
| Nishi H, et al.
|
| Biochem Biophys Res Commun 187 : 460-466. 1992
|
| 44 | TTR
|
| Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred.
|
| Jacobson DR, et al.
|
| Hum Genet 90 : 158-160. 1992
|
| 45 | TTR
|
| A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.
|
| Uemichi T, et al.
|
| J Med Genet 29 : 888-891. 1992
|
| 46 | TTR
|
| Molecular strategies in genetic diagnosis of thransthyretin-related hereditary amyloidosis.
|
| Ferlini A, et al.
|
| FASEB J 6 : 2864-2866. 1992
|
| 47 | TTR, APF
|
| Familial amyloidotic polyneuropathy : a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
|
| Jones LA, et al.
|
| Clin Genet 41 : 70-73. 1992
|
| 48 | FACM, TTR
|
| Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.
|
| NordvŠg BY, et al.
|
| Hum Genet 89 : 459-461. 1992
|
| 49 | APF, TTR
|
| Familial amyloidotic polyneuropathy presenting with Carpal Tunnel syndrome and a new transthyretin mutation, asparagine-70.
|
| Izumoto S, et al.
|
| Neurology 42 : 2094-2102. 1992
|
| 50 | SSCA, TTR
|
| The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis.
|
| Christmanson L, et al.
|
| FEBS Lett 281 : 177-180. 1991
|
| 51 | TTR
|
| Proline at position 36 : a new transthyretin mutation associated with familial amyloidotic polyneuropathy.
|
| Jones LA, et al.
|
| Am J Hum Genet 48 : 979-982. 1991
|
| 52 | TTR
|
| Frequency and genetic background of the position 122 (Val - Ile) variant transthyretin gene in the black population.
|
| Jacobson DR, et al.
|
| Am J Hum Genet 49 : 192-198. 1991
|
| 53 | TTR
|
| Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122).
|
| Nichols WC, et al.
|
| J Lab Clin Med 117 : 175-180. 1991
|
| 54 | TTR
|
| Mutations of transthyretin (TTR) gene in Italy.
|
| Ferlini A, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2013. 1991
|
| 55 | TTR
|
| A transthyretin variant associated with increased thyroxine binding and transient euthyroid hyperthyroxinemia.
|
| Scrimshaw B, et al.
|
| Am J Hum Genet 49S : 163. 1991
|
| 56 | TTR
|
| A second transthyretin mutation at position 33 (Leu/Phe) asociated with familial amyloidotic polyneuropathy.
|
| Harding J, et al.
|
| Biochim Biophys Acta 1097 : 183-186. 1991
|
| 57 | TTR
|
| New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.
|
| Saeki Y, et al.
|
| Biochem Biophys Res Commun 180 : 380-385. 1991
|
| 58 | TTR
|
| A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
|
| Skare JC, et al.
|
| Clin Genet 39 : 6-12. 1991
|
| 59 | TTR
|
| Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.
|
| Sandgren O, et al.
|
| Arch Ophthalmol 108 : 1584-1586. 1990
|
| 60 | APF, TTR
|
| Diagnosis of Mayland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified, genomic DNA.
|
| Mendell JR, et al.
|
| Ann Neurol 27 : 553-557. 1990
|
| 61 | SSCA, TTR
|
| A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.
|
| Jacobson DR, et al.
|
| Am J Hum Genet 47 : 127-136. 1990
|
| 62 | TTR
|
| A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.
|
| Moses AC, et al.
|
| J Clin Invest 86 : 2025-2033. 1990
|
| 63 | TTR
|
| Hereditary amyloidosis : detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences.
|
| Nichols WC, et al.
|
| Clin Genet 37 : 44-53. 1990
|
| 64 | TTR
|
| Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val-Met mutation most common to the disease.
|
| Yoshioka K, Furuya H, Sasaki H, Saraiva MJ, Costa PP, Sakaki Y.
|
| Hum Genet 82 : 9-13. 1989
|
| 65 | TTR
|
| A new variant prealbumin (transthyretin) associated with familial oculoleptomeningeal amyloidosis.
|
| Benson MD, et al.
|
| Am J Hum Genet 45 : A174. 1989
|
| 66 | TTR
|
| Prenatal detection of a gene for hereditary amyloidosis.
|
| Nichols WC, et al.
|
| Am J Med Genet 34 : 520-524. 1989
|
| 67 | TTR
|
| Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification.
|
| Nichols WC, Liepnieks JJ, McKusick VA, Benson MD.
|
| Genomics 5 : 535-540. 1989
|
| 68 | TTR
|
| Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1.
|
| Sparkes RS, et al.
|
| Hum Genet 75 : 151-154. 1987
|
| 69 | TTR, PVALB
|
| Structural organization and chromosomal assignment of the parvalbumin gene.
|
| Berchtold MW, et al.
|
| J Biol Chem 262 : 8696-8701. 1987
|
| 70 | TTR
|
| Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.
|
| Yoshioka K, et al.
|
| Mol Biol Med 3 : 319-328. 1986
|
| 71 | TTR
|
| Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.
|
| Wallace MR, et al.
|
| J Clin Invest 78 : 6-12. 1986
|
| 72 | TTR
|
| Genetic basis for familial amyloidotic polyneuropathy.
|
| Shimada K, et al.
|
| Bioessays 4 : 208-212. 1986
|
| 73 | TTR
|
| Two RFLPs associated with the human prealbumin gene (PALB).
|
| Yoshioka K, et al.
|
| Nucleic Acids Res 14 : 3147. 1986
|
| 74 | TTR
|
| Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization.
|
| Jinno Y, et al.
|
| Jpn J Hum Genet 31 : 243-248. 1986
|
| 75 | TTR
|
| Localization of the human prealbumin gene to chromosome 18.
|
| Wallace MR, Naylor SL, Kluve-Beckerman B, Long GL, McDonald L, Shows TB, Benson MD.
|
| Biochem Biophys Res Commun 129 : 753-758. 1985
|
| 76 | TTR
|
| Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.
|
| Moses AC, et al.
|
| N Engl J Med 306 : 966-969. 1982
|
| 77 | TTR
|
| Familial oculoleptomeningeal amyloidosis.
|
| Goren H, et al.
|
| Brain 103 : 473-495. 1980
|
| 78 | TTR
|
| Familial primary amyloidosis with severe amyloid heart disease.
|
| Frederiksen T, et al.
|
| Am J Med 33 : 328-348. 1962
|