Results 61 to 70 of about 18,051 (238)

Same MYH7 gene mutation but different phenotypes of cardiomyopathy in one family

Kaohsiung Journal of Medical Sciences, 2023
A 51-year-female presented to our hospital for repeated syncope. Eighteen years before, she had been diagnosed with hypertrophic obstructive cardiomyopathy and discharged after alcohol septal ablation with symptoms relieved.
Tingmei Liu, Y. Yao, Yu Kang, Qing Zhang
semanticscholar   +1 more source

Familial hypertrophic cardiomyopathy with midventricular obstruction associated with MYH7, FHOD3 and BAG3 gene variants: a case report

Российский кардиологический журнал
Introduction. Hypertrophic cardiomyopathy (HCM) with midventricular obstruction (MVO) represents a subgroup of increased risk of adverse outcomes. It contributes to development of apical aneurysm, which is an anatomical substrate for the development of ...
S. E. Andreeva, M. O. Marusova, M. A. Bortsova, A. A. Kostareva   +3 more
doaj   +1 more source

Circulating miR-499a-5p Is a Potential Biomarker of MYH7—Associated Hypertrophic Cardiomyopathy

International Journal of Molecular Sciences, 2022
Hypertrophic cardiomyopathy (HCM) is the most common inherited myocardial disease with significant genetic and phenotypic heterogeneity. To search for novel biomarkers, which could increase the accuracy of HCM diagnosis and improve understanding of its ...
N. Baulina, M. Pisklova, I. Kiselev, O. Chumakova, D. Zateyshchikov, O. Favorova   +5 more
semanticscholar   +1 more source

The identification of informative genes from multiple datasets with increasing complexity [PDF]

, 2010
Background In microarray data analysis, factors such as data quality, biological variation, and the increasingly multi-layered nature of more complex biological systems complicates the modelling of regulatory networks that can represent and capture the ...
AH Fielding, Allan Tucker, BC Haynes, C Zhang, D Grossman, D Heckerman, D Madigan, DM Chickering, DR Rhodes, E Segal, G Schwarz, H Ma, J Bockhorst, J Pearl, J Su, JB Tobler, JM Peña, KK Tomczak, KP Murphy, M Miron, M Stone, N Friedman, N Friedman, N Friedman, Peter AC 't Hoen, R Jelier, R Kohavi, R Mac Nally, RA Irizarry, S Iezzi, S Yahya Anvar, SS Shen-Orr, TI Lee, TVan den Bulcke, W Lam, WL Buntine, X Xu, Y Cao, Y Lai   +38 more
core   +3 more sources

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

BMC Medical Genetics, 2017
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh   +6 more
doaj   +1 more source

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects [PDF]

, 2017
Background Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects.
Barge-Schaapveld, D.Q.C.M. (Daniela), Bootsma, M. (Marianne), Boven, L.G. (Ludolf), Breuning, M.H. (Martijn), Bökenkamp, A. (Arend), Herkert, J.C. (Johanna), Hiemstra, Y.L. (Y. L.), Jongbloed, J.D.H. (Jan), Lekanne Deprez, R.H., Mil, A.M. (Anneke) van, Ruivenkamp, C.A. (Claudia), Slegtenhorst, M.A. (Marjon) van, Spaendonck-Zwarts, K.Y. (Karin) van, Ten Broeke, S.W. (Sanne W.), van der Linde, I.H.M. (I. H.M.), Veldkamp, R.F. (Rolf), Waning, J. (Jaap) van, Zwaag, P.A. (Paul) van der   +17 more
core   +1 more source

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

Frontiers in Physiology, 2018
Hypertrophic Cardiomyopathy (HCM) has been related to many different mutations in more than 20 different, mostly sarcomeric proteins. While development of the HCM-phenotype is thought to be triggered by the different mutations, a common mechanism remains
Judith Montag, Kathrin Kowalski, Mirza Makul, Pia Ernstberger, Ante Radocaj, Julia Beck, Edgar Becker, Snigdha Tripathi, Britta Keyser, Christian Mühlfeld, Kirsten Wissel, Andreas Pich, Jolanda van der Velden, Cristobal G. dos Remedios, Andreas Perrot, Antonio Francino, Francesco Navarro-López, Bernhard Brenner, Theresia Kraft   +18 more
doaj   +1 more source

Epigenetic Switch at Atp2a2 and Myh7 Gene Promoters in Pressure Overload-Induced Heart Failure [PDF]

, 2014
Re-induction of fetal genes and/or re-expression of postnatal genes represent hallmarks of pathological cardiac remodeling, and are considered important in the progression of the normal heart towards heart failure (HF).
ANGRISANO, TIZIANA, CHIARIOTTI, LORENZO, Enrico, Vittorio Avvedimento, ESPOSITO, GIOVANNI, FLORIO, ERMANNO, Gianluigi, Pironti, KELLER, SIMONA, LEMBO, FRANCESCA, MAGLIULO, FABIO, PERO, RAFFAELA, PERRINO, CINZIA, Roberta, Bottino, SCHIATTARELLA, GABRIELE GIACOMO, TRIMARCO, BRUNO   +13 more
core   +1 more source

Skeletal Muscle HSF1 Alleviates Age‐Associated Sarcopenia and Mitochondrial Function Decline via SIRT3‐PGC1α Axis

Advanced Science, EarlyView.
Aged HSF1 muscle‐specific knockout mice show deteriorated muscle atrophy and metabolic dysfunction, while active HSF1 overexpression improves muscle function via activating SIRT3 to deacetylate both PGC1α1 and PGC1α4, which boosts mitochondrial function and muscle hypertrophy in a fiber‐type specific manner, and induces FNDC5/Irisin for tissue ...
Jun Zhang, Min Hu, Xia Wu, Mingwei Guo, Ying Ma, Jin Qiu, Siqi Wang, Yuxiang Cao, Yinzhao Zhong, Fangfang Chen, Yiwen Wang, Wei Wei, Yan Lu, Yong Zhang, Junjie Xiao, Zhenji Gan, Cheng Hu, Xinran Ma, Lingyan Xu   +18 more
wiley   +1 more source

Impact of \u3cem\u3eMYH6\u3c/em\u3e Variants in Hypoplastic Left Heart Syndrome [PDF]

, 2016
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown.
Benson, D. Woodrow, Goetsch, Mary A., Hidestrand, Mats, Hidestrand, Pip M., Kim, Min-Su, Liang, Huan-Ling, Lough, John, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Tomita-Mitchell, Aoy, Tweddell, James S.   +13 more
core   +2 more sources