|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
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 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
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 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
|
24368466 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin amyloidosis: a new mutation associated with dementia.
|
9066351 |
1997 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
Autonomic neuropathy
|
|
0.010 |
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 |
|
Cardiomyopathies
|
|
0.020 |
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 |
|
Cardiomyopathies
|
|
0.020 |
GeneticVariation
|
BEFREE |
The L55P mutation linked to aggressive early onset cardiomyopathy and polyneuropathy induces substantial structural perturbations in both the DAGH and CBEF β-sheets, whereas the V30M polyneuropathy-linked substitution perturbs primarily the CBEF sheet.
|
29972637 |
2018 |
|
Kidney Diseases
|
|
0.010 |
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 |
|
Polyneuropathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The x-ray crystal structure of the amyloidogenic Leu55 --> Pro transthyretin (TTR) variant, implicated as the causative agent in early-onset familial amyloidotic polyneuropathy (Jacobson, D. R., McFarlin, D. E., Kane, I., and Buxbaum, J. N. (1992) Hum.Genet.
|
9733771 |
1998 |
|
Polyneuropathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The L55P mutation linked to aggressive early onset cardiomyopathy and polyneuropathy induces substantial structural perturbations in both the DAGH and CBEF β-sheets, whereas the V30M polyneuropathy-linked substitution perturbs primarily the CBEF sheet.
|
29972637 |
2018 |
|
Renal Insufficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene.
|
28272196 |
2017 |
|
Senile systemic amyloidosis
|
|
0.010 |
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 |