Gillmore J.D., Booth D.R., Pepys M.B., Hawkins P.N.

Heart 82:e2-e2(1999) GAD 137532 · Mapped (6)
Associated with CARDIOVASCULAR: cardiovascular; GAD 137532

Palacios S.A., Bittencourt P.L., Cancado E.L., Farias A.Q., Massarollo P.C., Mies S., Kalil J., Goldberg A.C.

Amyloid 6:289-291(1999) GAD 137524 · Mapped (6)
Associated with OTHER: Familial amyloidotic polyneuropathy type 1; GAD 137524

Yazaki M., Yamashita T., Kincaid J.C., Scott J.R., Auger R.G., Dyck P.J., Benson M.D.

Muscle Nerve 25:244-250(2002) GAD 137528 · Mapped (6)
Associated with OTHER: amyloid polyneuropathy; GAD 137528

Skinner M., Harding J., Skare I., Jones L.A., Cohen A.S., Milunsky A., Skare J.

Ophthalmology 99:503-508(1992) GAD 137535 · Mapped (6)
Associated with VISION: amyloidotic vitreous opacities Asparagine for isoleucine at position 84; GAD 137535

Scrimshaw B.J., Fellowes A.P., Palmer B.N., Croxson M.S., Stockigt J.R., George P.M.

Thyroid 2:21-26(1992) GAD 137523 · Mapped (6)
Associated with OTHER: increased thyroxine binding; GAD 137523

Jones L.A., Skare J.C., Harding J.A., Cohen A.S., Milunsky A., Skinner M.

Am. J. Hum. Genet. 48:979-982(1991) GAD 137530 · Mapped (6)
Associated with NEUROLOGICAL: familial amyloidotic polyneuropathy.; GAD 137530

Sandgren O., Holmgren G., Lundgren E.

Arch. Ophthalmol. 108:1584-1586(1990) GAD 137534 · Mapped (6)
Associated with OTHER: Vitreous amyloidosis; GAD 137534

Uemichi T., Gertz M.A., Benson M.D.

J. Med. Genet. 32:279-281(1995) GAD 137527 · Mapped (6)
Associated with NEUROLOGICAL: familial amyloid polyneuropathy.; GAD 137527

Herrick M.K., DeBruyne K., Horoupian D.S., Skare J., Vanefsky M.A., Ong T.

Neurology 47:988-992(1996) GAD 137531 · Mapped (6)
Associated with OTHER: Massive leptomeningeal amyloidosis; GAD 137531

Zolyomi Z., Benson M.D., Halasz K., Uemichi T., Fekete G.

Amyloid 5:30-34(1998) GAD 137533 · Mapped (6)
Associated with OTHER: familial amyloid polyneuropathy in a Hungarian family.; GAD 137533

Serag A.A., Altenbach C., Gingery M., Hubbell W.L., Yeates T.O.

Biochemistry 40:9089-9096(2001) GeneRIF 7276 · Mapped (6)
In a model of amyloidogenesis chemically cross-linked dimeric forms of transthyretin are able to assemble into amyloid fibrils from oligomeric protein building blocks rather than from structurally rearranged monomers. GeneRIF 7276

Hammarstrom P., Schneider F., Kelly J.W.

Science 293:2459-2462(2001) GeneRIF 7276 · Mapped (6)
incorporation of one or more T119M transthyretin mutant subunits into a predominantly V30M tetramer strongly stabilized the mixed tetramer against dissociation GeneRIF 7276

Raghu P., Reddy G.B., Sivakumar B.

Arch. Biochem. Biophys. 400:43-47(2002) GeneRIF 7276 · Mapped (6)
Inhibition of transthyretin amyloid fibril formation by 2 4-dinitrophenol through tetramer stabilization GeneRIF 7276

Neumann P., Cody V., Wojtczak A.

Acta Biochim. Pol. 48:867-875(2001) GeneRIF 7276 · Mapped (7)
Structural basis of negative cooperativity in transthyretin GeneRIF 7276

Nanri K., Utsumi H., Yamada M., Takata Y., Matsumura A., Kougo K., Sekine S., Ogawa D., Toyoda M.

J. Neurol. Sci. 198:93-96(2002) GeneRIF 7276 · Mapped (6)
Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. point mutation responsible for substitution of valine for isoleucine at position 107 GeneRIF 7276

Buttmann M., Marziniak M., Toyka K.V., Sommer C., Altland K.

J. Neurol. Neurosurg. Psychiatr. 73:86-87(2002) GeneRIF 7276 · Mapped (6)
DNA analysis showed heterozygosity for normal TTR and the amyloidogenic mutation ATTR (Val30Met) leading to the diagnosis of familial amyloidotic polyneuropathy. GeneRIF 7276

Liu K., Kelly J.W., Wemmer D.E.

J. Mol. Biol. 320:821-832(2002) GeneRIF 7276 · Mapped (6)
The correlation between destabilization of the transthyretin core strands and the tendency for amyloid formation(familial amyloid polyneuropathy variants) supports the view that these strands are involved in amyloidogenicity GeneRIF 7276

Noguchi H., Kaname T., Sekimoto T., Senba K., Nagata Y., Araki M., Abe M., Nakagata N., Ono T., Yamamura K. et al.

Genes Cells 7:1087-1098(2002) GeneRIF 7276 · Mapped (6)
role in naso-maxillary deformity in transgenic mice GeneRIF 7276

Koike H., Misu K., Ikeda S., Ando Y., Nakazato M., Ando E., Yamamoto M., Hattori N., Sobue G.

Arch. Neurol. 59:1771-1776(2002) GeneRIF 7276 · Mapped (6)
Differences in clinical and geographic features between early- and late-onset familial amyloid polyneuropathy TTR Met30 have been confirmed in Japanese patients with onset before and after 50 years of age. GeneRIF 7276

Jaroniec C.P., MacPhee C.E., Astrof N.S., Dobson C.M., Griffin R.G.

Proc. Natl. Acad. Sci. U.S.A. 99:16748-16753(2002) GeneRIF 7276 · Mapped (6)
TTR(105-115) adopts an extended beta-strand conformation that is similar to that found in the native protein except for substantial differences in the vicinity of the proline residue. GeneRIF 7276

Hammarstrom P., Wiseman R.L., Powers E.T., Kelly J.W.

Science 299:713-716(2003) GeneRIF 7276 · Mapped (6)
transthyretin amyloidosis inhibitors functioned by increasing the kinetic barrier associated with misfolding preventing amyloidogenesis by stabilizing the native state; the trans-suppressor mutation also functioned through kinetic stabilization GeneRIF 7276

Koga T., Ando E., Hirata A., Fukushima M., Kimura A., Ando Y., Negi A., Tanihara H.

Am. J. Ophthalmol. 135:188-193(2003) GeneRIF 7276 · Mapped (6)
The ATTR Val30 Met and ATTR Tyr114Cys mutations induce different clinical features of vitreous opacities GeneRIF 7276

Soares M.L., Centola M., Chae J., Saraiva M.J., Kastner D.L.

Biochim. Biophys. Acta 1626:65-74(2003) GeneRIF 7276 · Mapped (6)
Transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts. GeneRIF 7276

Askanas V., Engel W.K., McFerrin J., Vattemi G.

Neurology 61:257-260(2003) GeneRIF 7276 · Mapped (6)
In human muscle the Val122Ile TTR mutation predisposes to A[beta] GeneRIF 7276

Altland K., Winter P.

Electrophoresis 24:2265-2271(2003) GeneRIF 7276 · Mapped (6)
an unidirectional dimer to monomer transition of normal TTR is achieved at 70-80 degrees C in neutral to mild alkaline buffers or at 37 degrees C and slightly acidic pH (6-7). Addition of urea favors the transition into monomers. GeneRIF 7276