|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
The focus was on the phenotypic expression and survival in the majority of U.S. subjects with valine-to-isoleucine substitution at position 122 (Val122Ile) (n = 91) and wild-type ATTR (n = 189).
|
27386769 |
2016 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
Structural changes caused by the V122I cardiomyopathy-associated mutation are restricted to the immediate vicinity of the mutation site, directly perturbing the subunit interfaces.
|
29972637 |
2018 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.
|
28102864 |
2017 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
The V122I variant is the most common amyloidogenic mutation worldwide, producing familial amyloidotic cardiomyopathy primarily in individuals of African descent.
|
11752443 |
2001 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
ATTR V122I and AL are equally prevalent as the cause of cardiomyopathy in African Americans referred for a diagnosis of amyloidosis.
|
19781421 |
2009 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
To the best of our knowledge, we describe the larger report of Caucasian patients with Val142Ile cardiomyopathy.
|
26428663 |
2016 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
In Afro-Caribbean patients, ATTR V122I is an underappreciated cause of heart failure, and cardiomyopathy is often misattributed to hypertension.
|
27618855 |
2016 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln).
|
23193944 |
2013 |
|
Cardiomyopathies
|
|
0.780 |
GeneticVariation
|
BEFREE |
Patients with V122I-hATTR-CM were more impaired functionally ( P<0.001) and had worse measures of cardiac disease ( P<0.001) at the time of diagnosis, a greater decline in quality of life, and poorer survival ( P<0.001) in comparison with the other subgroups.
|
31109193 |
2019 |
|
Carpal Tunnel Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Consistent results were observed for TTR disease-causing mutation Val122Ile (rs76992529) with respect to carpal tunnel syndrome (p = 6.41 × 10<sup>-6</sup>) and mononeuropathies of upper limbs (p = 1.22 × 10<sup>-5</sup>).
|
31659433 |
2019 |
|
Carpal Tunnel Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Consistent results were observed for TTR disease-causing mutation Val122Ile (rs76992529) with respect to carpal tunnel syndrome (p = 6.41 × 10<sup>-6</sup>) and mononeuropathies of upper limbs (p = 1.22 × 10<sup>-5</sup>).
|
31659433 |
2019 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Till now, very few Caucasian cases of p.Val122Ile mutated TTR-related cardiac amyloidosis have been reported.
|
22449240 |
2012 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pressure-volume relationships in patients with transthyretin (ATTR) cardiac amyloidosis secondary to V122I mutations and wild-type transthyretin: Transthyretin Cardiac Amyloid Study (TRACS).
|
21191093 |
2011 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF.
|
28196196 |
2017 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
|
25743445 |
2015 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro).
|
30093168 |
2018 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
There were no differences in survival between patients with a grade 1, grade 2 or grade 3 99mTc-DPD scan in ATTRwt (n = 369), V122I-associated ATTRm (n = 92) or T60A-associated ATTRm (n = 59) amyloidosis.
|
28159995 |
2017 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The following were performed: genotyping of banked DNA for TTR V122I allele status and review of cardiovascular and demographic parameters in CHS and ARIC databases, with statistical comparisons of the frequency of congestive heart failure, survival, and occurrence of features of cardiac amyloidosis in carriers of the amyloidogenic allele and controls.
|
20435197 |
2010 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Afro-Caribbean Heart Failure in the United Kingdom: Cause, Outcomes, and ATTR V122I Cardiac Amyloidosis.
|
27618855 |
2016 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The widely held belief that cardiac amyloidosis is associated with low-voltage complexes is likely to contribute to underdiagnosis of ATTR V122I.
|
22795285 |
2012 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
<b>Background:</b> African-Americans (AAs) have a 3.5% carrier prevalence of <i>Transthyretin</i> (<i>TTR</i>) Val122Ile mutation (rs76992529), which is the genetic cause of a hereditary form of amyloidosis.
|
30813263 |
2019 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results highlighted that cis-regulatory variants may contribute to the cardiac TTR-related amyloidosis observed in patients carrier of Val122Ile mutation, the most common in population with African origin.
|
24111657 |
2013 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent.
|
28102864 |
2017 |