Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy

Bibliografiset tiedot
Päätekijät:	Carballo, S, Blair, E, Watkins, H
Aineistotyyppi:	Conference item
Julkaistu:	2005

Samankaltaisia teoksia

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
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Julkaistu: (2005)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
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Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
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How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
Tekijä: Marston, S, et al.
Julkaistu: (2012)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
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Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
Tekijä: Marston, S, et al.
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Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
Tekijä: Yilu Wang, et al.
Julkaistu: (2013-01-01)

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the <it>MYBPC3 </it>gene
Tekijä: Lehrke Stephanie, et al.
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A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity
Tekijä: Peng Y, et al.
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A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
Tekijä: Carballo, S, et al.
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Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene
Tekijä: Olgu Hallioglu Kilinc, et al.
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The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.
Tekijä: Benedicte Jørgenrud, et al.
Julkaistu: (2015-01-01)

Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients
Tekijä: Behnaz Sadat Abedi, et al.
Julkaistu: (2015-08-01)

Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies
Tekijä: Rani DS, et al.
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MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
Tekijä: James W McNamara, et al.
Julkaistu: (2017-01-01)

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
Tekijä: Javier Diez, et al.
Julkaistu: (2020-06-01)

A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
Tekijä: Erru Ni, et al.
Julkaistu: (2023-08-01)

A Re-evaluation of the South Asian MYBPC3Δ25 Intronic Deletion in Hypertrophic Cardiomyopathy
Tekijä: Harper, AR, et al.
Julkaistu: (2020)

Transcriptome Analysis of Cardiac Hypertrophic Growth in MYBPC3-Null Mice Suggests Early Responders in Hypertrophic Remodeling
Tekijä: Emily Farrell, et al.
Julkaistu: (2018-10-01)

Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy
Tekijä: Wood, KA, et al.
Julkaistu: (2021)

Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin‐Binding Protein C)
Tekijä: Alfonso Peñarroya, et al.
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Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
Tekijä: Carballo, S, et al.
Julkaistu: (2004)

MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations
Tekijä: Li-rong Lin, et al.
Julkaistu: (2022-06-01)

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Tekijä: Mario Torrado, et al.
Julkaistu: (2022-05-01)

Myocardial dysfunction caused by MyBPC3 P459fs mutation in hypertrophic cardiomyopathy: evidence from multi-omics approaches and super-resolution imaging
Tekijä: Yupeng Wu, et al.
Julkaistu: (2025-02-01)

Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy
Tekijä: Katherine A. Wood, et al.
Julkaistu: (2021-06-01)

MYBPC3Δ25bp intronic deletion in hypertrophic cardiomyopathy patients and healthy Iranian population
Tekijä: Leila Emrahi, et al.
Julkaistu: (2021-04-01)

Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy
Tekijä: Giulia Mearini, et al.
Julkaistu: (2013-01-01)

A human <it>MYBPC3</it> mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death
Tekijä: Teirlinck Carolien H, et al.
Julkaistu: (2012-11-01)

Western diet triggers cardiac dysfunction in heterozygous Mybpc3-targeted knock-in mice: A two-hit model of hypertrophic cardiomyopathy
Tekijä: Edgar E. Nollet, et al.
Julkaistu: (2023-12-01)

Erratum: How do MYBPC3 mutations cause hypertrophic cardiomyopathy? (Journal of Muscle Research and Cell Motility DOI 10.1007/s10974-011-9268-3)
Tekijä: Marston, S, et al.
Julkaistu: (2012)

Inhibition of HSC70 alleviates hypertrophic cardiomyopathy pathology in human induced pluripotent stem cell‐derived cardiomyocytes with a MYBPC3 mutation
Tekijä: Hangyuan Qiu, et al.
Julkaistu: (2021-12-01)

Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
Tekijä: Marta Ribeiro, et al.
Julkaistu: (2024-04-01)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
Tekijä: Abdulrazzak, H, et al.
Julkaistu: (2001)

AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models
Tekijä: Amara Greer-Short, et al.
Julkaistu: (2025-03-01)

Metabolic remodeling and calcium handling abnormality in induced pluripotent stem cell-derived cardiomyocytes in dilated phase of hypertrophic cardiomyopathy with MYBPC3 frameshift mutation
Tekijä: Haruka Mori, et al.
Julkaistu: (2024-07-01)

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.
Tekijä: Noriyoshi Akiyama, et al.
Julkaistu: (2023-01-01)

Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
Tekijä: Amit Manhas, et al.
Julkaistu: (2022-05-01)

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
Tekijä: Burton, D, et al.
Julkaistu: (2002)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
Tekijä: Burton, D, et al.
Julkaistu: (2000)