Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Carballo, S, Blair, E, Watkins, H
Μορφή:	Conference item
Έκδοση:	2005

Παρόμοια τεκμήρια

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
ανά: Carballo, S, κ.ά.
Έκδοση: (2005)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
ανά: Carballo, S, κ.ά.
Έκδοση: (2003)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
ανά: Carballo, S, κ.ά.
Έκδοση: (2005)

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
ανά: Marston, S, κ.ά.
Έκδοση: (2012)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
ανά: Toepfer, C, κ.ά.
Έκδοση: (2019)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
ανά: Marston, S, κ.ά.
Έκδοση: (2009)

Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
ανά: Yilu Wang, κ.ά.
Έκδοση: (2013-01-01)

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the <it>MYBPC3 </it>gene
ανά: Lehrke Stephanie, κ.ά.
Έκδοση: (2008-10-01)

A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity
ανά: Peng Y, κ.ά.
Έκδοση: (2023-03-01)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
ανά: Carballo, S, κ.ά.
Έκδοση: (2004)

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene
ανά: Olgu Hallioglu Kilinc, κ.ά.
Έκδοση: (2017-07-01)

The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.
ανά: Benedicte Jørgenrud, κ.ά.
Έκδοση: (2015-01-01)

Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients
ανά: Behnaz Sadat Abedi, κ.ά.
Έκδοση: (2015-08-01)

Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies
ανά: Rani DS, κ.ά.
Έκδοση: (2023-09-01)

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
ανά: James W McNamara, κ.ά.
Έκδοση: (2017-01-01)

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
ανά: Javier Diez, κ.ά.
Έκδοση: (2020-06-01)

A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
ανά: Erru Ni, κ.ά.
Έκδοση: (2023-08-01)

A Re-evaluation of the South Asian MYBPC3Δ25 Intronic Deletion in Hypertrophic Cardiomyopathy
ανά: Harper, AR, κ.ά.
Έκδοση: (2020)

Transcriptome Analysis of Cardiac Hypertrophic Growth in MYBPC3-Null Mice Suggests Early Responders in Hypertrophic Remodeling
ανά: Emily Farrell, κ.ά.
Έκδοση: (2018-10-01)

Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy
ανά: Wood, KA, κ.ά.
Έκδοση: (2021)

Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin‐Binding Protein C)
ανά: Alfonso Peñarroya, κ.ά.
Έκδοση: (2024-11-01)

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
ανά: Carballo, S, κ.ά.
Έκδοση: (2004)

MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations
ανά: Li-rong Lin, κ.ά.
Έκδοση: (2022-06-01)

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
ανά: Mario Torrado, κ.ά.
Έκδοση: (2022-05-01)

Myocardial dysfunction caused by MyBPC3 P459fs mutation in hypertrophic cardiomyopathy: evidence from multi-omics approaches and super-resolution imaging
ανά: Yupeng Wu, κ.ά.
Έκδοση: (2025-02-01)

Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy
ανά: Katherine A. Wood, κ.ά.
Έκδοση: (2021-06-01)

MYBPC3Δ25bp intronic deletion in hypertrophic cardiomyopathy patients and healthy Iranian population
ανά: Leila Emrahi, κ.ά.
Έκδοση: (2021-04-01)

Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy
ανά: Giulia Mearini, κ.ά.
Έκδοση: (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
ανά: Teirlinck Carolien H, κ.ά.
Έκδοση: (2012-11-01)

Western diet triggers cardiac dysfunction in heterozygous Mybpc3-targeted knock-in mice: A two-hit model of hypertrophic cardiomyopathy
ανά: Edgar E. Nollet, κ.ά.
Έκδοση: (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)
ανά: Marston, S, κ.ά.
Έκδοση: (2012)

Inhibition of HSC70 alleviates hypertrophic cardiomyopathy pathology in human induced pluripotent stem cell‐derived cardiomyocytes with a MYBPC3 mutation
ανά: Hangyuan Qiu, κ.ά.
Έκδοση: (2021-12-01)

Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
ανά: Marta Ribeiro, κ.ά.
Έκδοση: (2024-04-01)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
ανά: Abdulrazzak, H, κ.ά.
Έκδοση: (2001)

AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models
ανά: Amara Greer-Short, κ.ά.
Έκδοση: (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
ανά: Haruka Mori, κ.ά.
Έκδοση: (2024-07-01)

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.
ανά: Noriyoshi Akiyama, κ.ά.
Έκδοση: (2023-01-01)

Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
ανά: Amit Manhas, κ.ά.
Έκδοση: (2022-05-01)

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
ανά: Burton, D, κ.ά.
Έκδοση: (2002)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
ανά: Burton, D, κ.ά.
Έκδοση: (2000)