|
rs121918082
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.840 |
GeneticVariation
|
BEFREE |
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.
|
31826067 |
2019 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.
|
31821430 |
2019 |
|
rs267607161
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser.
|
31521469 |
2020 |
|
rs121918082
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.840 |
GeneticVariation
|
BEFREE |
Transthyretin amyloidosis with a Glu89Gln mutation was diagnosed.
|
31517333 |
2019 |
|
rs267607161
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
This study confirmed the structural modulation effect of tafamidis on A97S-TTR and implied the potential therapeutic benefit of tafamidis for A97S TTR-FAP.
|
31502419 |
2019 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Demographic and clinical data at the time of enrolment for Brazilian subjects with symptomatic V30M ATTRv-PN were extracted from the ongoing, multinational, longitudinal, observational Transthyretin Amyloidosis Outcomes Survey (THAOS; cut-off date: January 30, 2017).
|
31163298 |
2019 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.
|
31019999 |
2019 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families.
|
30811423 |
2019 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families.
|
30615214 |
2019 |
|
rs267607161
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
This is the first FAP family with a proven missense mutation c.349G>T in Mainland China, as well as the first FAP case with chronic paroxysmal dry cough.
|
30361054 |
2019 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
|
30091268 |
2018 |
|
rs1555631390
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
GTGAGTC |
0.700 |
CausalMutation
|
CLINVAR |
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.
|
29941560 |
2018 |
|
rs267607161
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
Herein, we demonstrate genetic confirmation of the ATTR Ala97Ser mutation, the most common endemic mutation in Taiwan.
|
29939164 |
2018 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met).
|
29581083 |
2018 |
|
rs1555631402
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
|
29455155 |
2018 |
|
rs267607161
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
These results demonstrate that the hTTR<sup>A97S</sup> mouse model develops sensory nerve pathology and corresponding physiology mimicking A97S-FAP and provides a platform to develop new therapies for the early stage of A97S-FAP.
|
29423915 |
2018 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD).
|
28813711 |
2017 |
|
rs876658108
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
|
28635949 |
2017 |
|
rs121918085
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
|
28635949 |
2017 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.
|
28327574 |
2017 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment.
|
27884058 |
2016 |
|
rs121918081
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two mutations, Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136 Ser), were detected in Chinese FAP patients for the first time.
|
27859927 |
2017 |
|
rs1555631387
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.
|
27859927 |
2017 |