|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A Swedish family with the rare Phe33Leu transthyretin mutation.
|
16194875 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy.
|
15536615 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants.
|
15185492 |
2004 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
|
15214015 |
2004 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.
|
15523922 |
2004 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.
|
15249622 |
2004 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) type I is caused by a mutated transthyretin (TTR V30M) and characterized by a sensorimotor and autonomic neuropathy.
|
15496172 |
2004 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Autopsy findings in a 68-year-old FAP patient with a homozygous mutation of the Val30Met TTR gene were described.
|
15185500 |
2004 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
To evaluate the therapeutic efficacy of liver transplantation in patients with ATTR Val30Met familial amyloid polyneuropathy (FAP), were repeatedly examined the neurophysiological function of peripheral nerves in nine patients.
|
12762137 |
2003 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs.
|
14986482 |
2003 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Tabulation of human transthyretin (TTR) variants, 2003.
|
14640030 |
2003 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs.
|
14986482 |
2003 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition, the presence of an autoantibody against ATTR Val30Met was evaluated via ELISA using purified ATTR Val30Met from homozygotic FAP patients' sera.
|
11907422 |
2002 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
|
12403615 |
2002 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.
|
11709003 |
2001 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
|
11385707 |
2001 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met.
|
10611950 |
1999 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |