Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
The most common amyloidogenic TTR variant is V30M-TTR, and L55P-TTR is the variant associated with the most aggressive form of FAP.
|
10551861 |
1999 |
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.
|
31319424 |
2019 |
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
Our study offers new insights on the negative impact of S-homocysteinylation on L55P-TTR stability, whose aggregation is considered the causative agent of a form of early-onset familial amyloid polyneuropathy and cardiomyopathy.
|
31676294 |
2020 |
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
The presence of extracellular deposits of amyloid aggregates of WT or L55P TTR, respectively, is a key hallmark of two pathological conditions, known as senile systemic amyloidosis and familial amyloid polyneuropathy.
|
30131519 |
2018 |
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).
|
7910950 |
1994 |
Amyloidosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy.
|
17701470 |
2007 |
Amyloidosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
We also demonstrated that clusterin is an effective inhibitor of L55P TTR amyloidosis, the most aggressive form of TTR diseases.
|
19664600 |
2009 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
|
2161654 |
1990 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
|
8019560 |
1994 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin mutation associated with amyloid cardiomyopathy.
|
1570831 |
1992 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
|
2891727 |
1988 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
|
15214015 |
2004 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
|
12403615 |
2002 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
|
7850982 |
1995 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
|
10611950 |
1999 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
|
3818577 |
1986 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
BEFREE |
The most common amyloidogenic TTR variant is V30M-TTR, and L55P-TTR is the variant associated with the most aggressive form of FAP.
|
10551861 |
1999 |