Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. J Neurol 2012;259:2226-8.Briani, C, Cavallaro, T, Ferrari, S, Taioli, F, Calamelli, S, Verga, L, Adami, F, Fabrizi, GM (2012) Sporadic transthyretin amyloidosis with a novel TTR gene ...
Two asymptomatic carriers of the TTR gene mutation remained normal condition. ConclusionThe clinical manifestations of TTR-FAP include progressive sensorimotor and autonomic neuropathy, and multi-system disorders, such as combining with gastrointestinal problems, hypertrophic myocardium, inexplicable weight ...
TTR基因突变会破坏蛋白四聚体的稳定性,导致可溶性四聚体解离为不溶的蛋白单体并沉积在全身组织中引起淀粉样变性。人类基因突变数据库(Human Gene Mutation Database,HGMD)中已报道130种TTR基因突变,其中127种为错义突变,3种为小的插入或缺失突...
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. A new mutation (TTR ala-47) in the transthyretin gene associated with hereditary amyloidosis. Hum Mutat. 1994;4:61-4.Ferlini A, Patrosso MC, Repetto......
A large number of protein variants, each caused by a different point mutation in the TTR gene have been identified, including TTR Val30Ala. Since the age of onset, organ involvement, and disease progression are highly variable in FAP, even among individuals with the same TTR genetic variation...
Consequences of mutations within the C terminus of the FHL1 gene Mutations in the four-and-a-half LIM domain 1 gene (FHL1) cause X-linked late-onset scapuloaxioperoneal myopathy characterized by postural muscle atrophy w... B Schoser,HH Goebel,I Janisch,... - 《Neurology》 被引量: 90...
On the one hand, there could be a difference in the expression of the mutated allele according to the gender of the parent who transmitted the mutation, such as an imprinting phenomenon. We will refer to this mechanism as a 1INRA-GABI, Jouy-en-Josas, France; 2INSERM, U535, Villejuif, ...
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis Background Transthyretin amyloidosis, also called ATTR amyloidosis, is a life-threatening disease characterized by progressive accumulation of misfolded transthyretin (TTR) protein in tissues, predominantly the nerves and heart. NTLA-200... A...
wt-ATTR is characterized by wild-type TTR amyloid deposition, while the latter is a heterogeneous group of autosomal dominant diseases caused by mutation in the TTR gene. wt-ATTR involves amyloid deposition in the heart that can result in cardiac insufficiency and death, with secondary deposition ...
Among the 4 patients who did not have a TTR mutation, 3 underwent a endomyocardial biopsy to confirm the amyloid nature of the cardiopathy which was positive in all 3. Final diagnosis was AA amyloidosis for one, senile TTR for one and non-typed amyloidosis for the last one....