|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Our research suggests that impairment of autophagy might be involved in the pathogenesis of TTR FAP with Y114C mutation, and curcumin might be a potential therapeutic approach for TTR FAP.
|
25382970 |
2014 |
|
rs121918075
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.
|
23713495 |
2013 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
|
24368466 |
2013 |
|
rs121918075
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.
|
21135536 |
2011 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.
|
21135536 |
2011 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
BEFREE |
To clarify the cause of proximally dominant muscular atrophy in patients with FAP transthyretin Ser50Ile and Tyr114Cys, we investigated the distinctive features of muscle specimens of patients with FAP, 3 of who had Val30Met, 2 Ser50Ile, and 2 Tyr114Cys transthyretin.
|
15536615 |
2005 |
|
rs121918075
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
The biological and chemical basis for tissue-selective amyloid disease.
|
15820680 |
2005 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
|
15214015 |
2004 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
|
12403615 |
2002 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
|
10611950 |
1999 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.
|
10436378 |
1999 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Transthyretin amyloidosis: a new mutation associated with dementia.
|
9066351 |
1997 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
|
7850982 |
1995 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
|
8019560 |
1994 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A new transthyretin mutation associated with amyloid cardiomyopathy.
|
1570831 |
1992 |
|
rs121918075
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |