Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review
P Chandrashekar, L Alhuneafat… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: The p. Val142Ile variant, predominantly found among people of African
descent, is the most common cause of variant transthyretin amyloidosis and carriers …
descent, is the most common cause of variant transthyretin amyloidosis and carriers …
Diagnostic and treatment approaches involving transthyretin in amyloidogenic diseases
GY Park, A Jamerlan, KH Shim, SSA An - International journal of …, 2019 - mdpi.com
Transthyretin (TTR) is a thyroid hormone-binding protein which transports thyroxine from the
bloodstream to the brain. The structural stability of TTR in tetrameric form is crucial for …
bloodstream to the brain. The structural stability of TTR in tetrameric form is crucial for …
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry
Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively
debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common …
debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common …
Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: Neurological and cardiological features
L Gentile, G Di Bella, F Minutoli… - Journal of the …, 2020 - Wiley Online Library
V122I is one of more than 130 mutations in transthyretin gene associated with hereditary
TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic …
TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic …
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
A De Lillo, GA Pathak, F De Angelis, M Di Girolamo… - Clinical …, 2020 - Springer
Hereditary transthyretin (TTR) amyloidosis (hATTR) is a rare life-threatening disorder
caused by amyloidogenic coding mutations located in TTR gene. To understand the high …
caused by amyloidogenic coding mutations located in TTR gene. To understand the high …
Transthyretin mutagenesis: impact on amyloidogenesis and disease
Transthyretin (TTR), a homotetrameric protein found in plasma, cerebrospinal fluid, and the
eye, plays a pivotal role in the onset of several amyloid diseases with high morbidity and …
eye, plays a pivotal role in the onset of several amyloid diseases with high morbidity and …
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin …
A De Lillo, F De Angelis, M Di Girolamo, M Luigetti… - Human Genetics, 2019 - Springer
Transthyretin (TTR) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and
is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To …
is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To …
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
Purpose Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of
amyloidosis characterized by a complex genotype-phenotype correlation with limited …
amyloidosis characterized by a complex genotype-phenotype correlation with limited …
Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms
Background: The Val122Ile mutation in Transthyretin (TTR) gene causes a rare, difficult to
diagnose hereditary form of cardiac amyloidosis. This mutation is most common in the …
diagnose hereditary form of cardiac amyloidosis. This mutation is most common in the …
[HTML][HTML] Sustained ventricular tachycardia as a harbinger of cardiac amyloidosis
Objective: Rare co-existance of disease or pathology Background: Cardiac amyloidosis is
an infiltrative cardiomyopathy caused by the extracellular deposition of insoluble precursor …
an infiltrative cardiomyopathy caused by the extracellular deposition of insoluble precursor …