Cargando…

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Cardiac troponin I (TNNI3) gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has been reported in the N terminus of the protein. In model organisms, it impairs PK...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fahed, Akl C., Nemer, Georges, Bitar, Fadi F., Arnaout, Samir, Abchee, Antoine B., Batrawi, Manal, Khalil, Athar, Abou Hassan, Ossama K., DePalma, Steven R., McDonough, Barbara, Arabi, Mariam T., Ware, James S., Seidman, Jonathan G., Seidman, Christine E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676616/ https://www.ncbi.nlm.nih.gov/pubmed/32885985 http://dx.doi.org/10.1161/CIRCGEN.120.002991

Ejemplares similares

NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity
por: Abou Hassan, Ossama K., et al.
Publicado: (2015)

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects
por: Kamar, Amina, et al.
Publicado: (2017)

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
por: Adalsteinsdottir, Berglind, et al.
Publicado: (2020)

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension
por: Abou Hassan, Ossama K., et al.
Publicado: (2019)

Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases
por: Refaat, Marwan M., et al.
Publicado: (2019)

GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient
por: Kassab, Kameel, et al.
Publicado: (2015)

An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations
por: Quiat, Daniel, et al.
Publicado: (2022)

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes
por: Alamo, Lorenzo, et al.
Publicado: (2017)

Hypertrophic cardiomyopathy: Translating cellular cross talk into therapeutics
por: Teekakirikul, Polakit, et al.
Publicado: (2012)

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia
por: Fahed, Akl C., et al.
Publicado: (2017)

A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations
por: Khalil, Athar, et al.
Publicado: (2017)

Familial Hypercholesterolemia: The Lipids or the Genes?
por: Fahed, Akl C, et al.
Publicado: (2011)

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy
por: van den Wijngaard, A., et al.
Publicado: (2011)

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
por: Rajkumar, Revathi, et al.
Publicado: (2012)

Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy
por: Fahed, Akl C., et al.
Publicado: (2016)

Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy
por: Margara, Francesca, et al.
Publicado: (2022)

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases
por: Khalil, Athar, et al.
Publicado: (2017)

Improving risk prediction in hypertrophic cardiomyopathy: the key role of Dutch founder variants
por: Walsh, R., et al.
Publicado: (2021)

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon
por: Abou Hassan, Ossama K., et al.
Publicado: (2018)

Cardiac Troponin I and T as Prognostic Markers in Cats with Hypertrophic Cardiomyopathy
por: Langhorn, R., et al.
Publicado: (2014)

Diagnostic utility of cardiac troponin I in cats with hypertrophic cardiomyopathy
por: Hori, Yasutomo, et al.
Publicado: (2018)

The Role of the L-Type Ca(2+) Channel in Altered Metabolic Activity in a Murine Model of Hypertrophic Cardiomyopathy
por: Viola, Helena M., et al.
Publicado: (2016)

The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy
por: Ahmad, Ferhaan, et al.
Publicado: (2008)

Multi-Omics Profiling of Hypertrophic Cardiomyopathy Reveals Altered Mechanisms in Mitochondrial Dynamics and Excitation–Contraction Coupling
por: Moore, Jarrod, et al.
Publicado: (2023)

Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice
por: Reichart, Daniel, et al.
Publicado: (2023)

Genetics of inherited cardiocutaneous syndromes: a review
por: Bardawil, Tara, et al.
Publicado: (2016)

An In Silico Analysis of Troponin I Mutations in Hypertrophic Cardiomyopathy of Indian Origin
por: Ramachandran, Gayatri, et al.
Publicado: (2013)

Reversed Septal Curvature Is Associated with Elevated Troponin Level in Hypertrophic Cardiomyopathy
por: Rajtar-Salwa, Renata, et al.
Publicado: (2020)

Hypertrophic Cardiomyopathy Mutations of Troponin Reveal Details of Striated Muscle Regulation
por: Chalovich, J. M., et al.
Publicado: (2022)

Divergent effects of α- and β-myosin heavy chain isoforms on the N terminus of rat cardiac troponin T
por: Mamidi, Ranganath, et al.
Publicado: (2013)

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
por: Jansen, Mark, et al.
Publicado: (2023)

ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients
por: Chalkias, Spyros, et al.
Publicado: (2018)

Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation
por: Onoue, Kenji, et al.
Publicado: (2021)

Genetic variation in exon 5 of troponin - I gene in hypertrophic cardiomyopathy cases
por: Annapurna, S. D., et al.
Publicado: (2007)

Plasma Cardiac Troponin I Concentration and Cardiac Death in Cats with Hypertrophic Cardiomyopathy
por: Borgeat, K., et al.
Publicado: (2014)

Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype
por: Marques, Mayra de A., et al.
Publicado: (2016)

Elevation of high‐sensitivity cardiac troponin T and left ventricular remodelling in hypertrophic cardiomyopathy
por: Kubo, Toru, et al.
Publicado: (2020)

Diet, Genetics, and Disease: A Focus on the Middle East and North Africa Region
por: Fahed, Akl C., et al.
Publicado: (2012)

Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation()
por: Messer, Andrew E., et al.
Publicado: (2016)

Foundered
por: Hayes, P. H.
Publicado: (1876)

Cannot write session to /tmp/vufind_sessions/sess_9nbr9a13ec8aeu6qhtbc1r4bvr