Results 61 to 70 of about 9,138 (204)

Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion. [PDF]

, 2018
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive ...
Adamuz, C, Behr, ER, Homfray, T, Malhotra, A, Monserrat, L, Papadakis, M, Sharma, S, Sheikh, N, Wilson, M   +8 more
core   +2 more sources

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

HYPERTROPHIC CARDIOMYOPATHY AND MYOCARDIAL CRYPT OF THE LEFT VENTRICLE

Российский кардиологический журнал, 2017
First time, myocardial clefty were described more than 20 years ago in autopsy of patients with hypertrophic cardiomyopathy (HCMP): the “fissure” along muscle fibers in interventricular septum.
Yu. V. Frolova, O. V. Dymova, E. V. Zaklyazminskaya, M. E. Polyak, E. A. Mershina, V. E. Sinitsin, S. L. Dzemeshkevich   +6 more
doaj   +1 more source

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease [PDF]

, 2017
A genome-wide survival analysis of 14,406 Alzheimer's disease (AD) cases and 25,849 controls identified eight previously reported AD risk loci and 14 novel loci associated with age at onset.
A Alpérovitch, A Beiser, A Griffon, A Gusev, A Hofman, AC Naj, AC Naj, AJ Slooter, Alan E Renton, Albert Smith, Alison M Goate, AM Fagan, AM Smith, Andrew McKenzie, Anita DeStefano, Anna A Pimenova, Annette Fitzpatrick, Antonio F Di Narzo, B Daniel, B Zhang, BE Bernstein, Benjamin Grenier-Boley, Benjamin P Fairfax, Bin Zhang, BN Howie, BP Fairfax, C Bennett, C Cruchaga, C DeCarli, C Giambartolomei, CA Sloan, Carlos Cruchaga, CJ Willer, Cornelia van Duijn, Céline Bellenguez, D Harold, DL Bachman, DR Beers, DR Cox, E Gjoneska, E Peskind, Edoardo Marcora, EK Speliotes, EL Jones, EM Bradshaw, ER Peskind, G Chan, Gerard D Schellenberg, GL Splansky, Hieab H H Adams, HK Finucane, Ingrid Borecki, J Satoh, J-C Lambert, Jake Czajkowski, JB van der Net, Jean Charles Lambert, John Budde, John S K Kauwe, Jonathan L Haines, Jorge L Del-Aguila, Joshua C Bis, JS Roe, JSK Kauwe, Julie Williams, K Blennow, K Hikami, K Sakai, Ke Hao, KS Mak, Kuan-lin Huang, Laura Ibañez, LD Ward, Lenore Launer, Lindsay A Farrer, M Arfan Ikram, M Feinleib, M Thambisetty, Manav Kapoor, Margaret A Pericak-Vance, Maria Victoria Fernandez, ME Farmer, MI Kamboh, ML Bennett, NN Dagher, O Butovsky, OL Lopez, Oscar Harari, P Hollingworth, Philippe Amouyel, R Au, R Guerreiro, Rebecca Sims, Richard Mayeux, RJ Pruim, RJ Strawbridge, RL Prentice, S Garnier, S Purcell, S Seshadri, S Seshadri, S Steinberg, Sarah Bertelsen, Sheng Chih Jin, SR McKercher, Sudha Seshadri, Sven van der Lee, T Grimmer, T Jonsson, T Raj, TH Pham, TM Bajari, Towfique Raj, TR Dawber, U Dreses-Werringloer, Valentina Escott-Price, Vincent Chouraki, X Wang, X Zhou, Y Wang, Y Zhang, Y Zhang, Yuetiva Deming, Z Zhu   +123 more
core   +2 more sources

Contractile deficits in engineered cardiac microtissues as a result of MYBPC3 deficiency and mechanical overload. [PDF]

, 2018
The integration of in vitro cardiac tissue models, human induced pluripotent stem cells (hiPSCs) and genome-editing tools allows for the enhanced interrogation of physiological phenotypes and recapitulation of disease pathologies.
Boggess, Steven, Conklin, Bruce R, Grigoropoulos, Costas P, Healy, Kevin E, Huebsch, Nathaniel, Koo, Sangmo, Ma, Zhen, Mandegar, Mohammad A, Siemons, Brian   +8 more
core   +1 more source

Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy. [PDF]

, 2015
BACKGROUND: Sarcomeric gene mutations cause hypertrophic cardiomyopathy (HCM). In gene mutation carriers without left ventricular (LV) hypertrophy (G + LVH-), subclinical imaging biomarkers are recognized as predictors of overt HCM, consisting of ...
Anna S. Herrey, Arthur Nasis, B Gray, B Johansson, BJ Maron, BJ Maron, Charlotte Manisty, CM Kramer, CY Ho, CY Ho, CY Ho, CY Ho, Daniel M. Sado, DP Deva, G Captur, Gabriella Captur, GR Abecasis, HM Lever, I Christiaans, J Binder, James C. Moon, JC Moon, JM Bland, JM Bos, JM Bos, K Alfakih, K Inoue, KJ Silverman, LR Lopes, LR Lopes, Maite Tome-Esteban, Mariana Mirabel, MS Maron, MS Maron, P Charron, P Marchal, Patricia Reant, Perry M. Elliott, Petros Syrris, R Martin, RA Noureldin, RM Lang, SD Solomon, Sharon Jenkins, Silvia Castelletti, T Konno, Viviana Maestrini, William J. McKenna, WJ McKenna   +48 more
core   +3 more sources

The Grey Zone Project: Risk‐Based Classification of ABCD1 Variants in X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Troy C. Lund, Kelly Miettunen, Yorrick R. J. Jaspers, Caroline Bergner, Joshua L. Bonkowsky, Fabio Bruschi, Julie S. Cohen, Inge M. E. Dijkstra, Florian S. Eichler, Eric J. Mallack, Gajja S. Salomons, Robert Thompson, Davide Tonduti, Keith P. van Haren, Mirjam M. C. Wamelink, Ayelet Zerem, Marc Engelen, Stephan Kemp   +17 more
wiley   +1 more source

Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM

Circulation Research, 2023
Background: The pathogenesis of MYBPC3 -associated hypertrophic cardiomyopathy (HCM) is still unresolved. In our HCM patient cohort, a large and well-characterized population carrying the MYBPC3 :c772G>A variant (p.Glu258Lys, E258K) provides the unique ...
Josè Manuel Pioner, Giulia Vitale, Sonette Steczina, Marianna Langione, Francesca Margara, Lorenzo Santini, Francesco Giardini, Erica Lazzeri, Nicoletta Piroddi, Beatrice Scellini, Chiara Palandri, Maike Schuldt, Valentina Spinelli, Francesca Girolami, Francesco Mazzarotto, Jolanda van der Velden, Elisabetta Cerbai, Chiara Tesi, Iacopo Olivotto, Alfonso Bueno-Orovio, Leonardo Sacconi, Raffaele Coppini, Cecilia Ferrantini, Michael Regnier, Corrado Poggesi   +24 more
openaire   +4 more sources

Transcriptional and functional effects of mavacamten in multiple porcine and human models with hypertrophic cardiomyopathy

British Journal of Pharmacology, Volume 183, Issue 5, Page 1122-1139, March 2026.
Abstract Background and Purpose Mavacamten (MAVA) is a novel small molecule inhibitor of cardiac myosin, mitigating cardiomyocyte hypercontractility in patients with hypertrophic obstructive cardiomyopathy (HOCM). Despite its recent approval for clinical use, the transcriptional and functional impacts of MAVA remain not well understood.
Elisa Kiselev, Wilson Agyapong, Bjarne Jürgens, Elisa Mohr, Shambhabi Chatterjee, Hannah J. Hunkler, Jawad Salman, Giuseppe Cipriano, Marco Bentele, Junqing Liu, Jonas Specht, Kaja S. Menge, Florian J. G. Waleczek, Jonas A. Haas, Anselm A. Derda, Kristina Sonnenschein, Anika Gietz, Susanne Neumüller, Angelika Pfanne, Oliver Beetz, Michael Pflaum, Bettina Wiegmann, Yiangos Psaras, Christopher Toepfer, Robert Zweigerdt, Ante Radocaj, Theresia Kraft, Andre Zeug, Evgeni Ponimaskin, Wilhelm Korte, Alexander Horke, Arjang Ruhparwar, Maximilian Fuchs, Ke Xiao, Christian Bär, Natalie Weber, Thomas Thum   +36 more
wiley   +1 more source

Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case

Frontiers in Cardiovascular Medicine, 2022
BackgroundSudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD.
Jie-Yuan Jin, Jiao Xiao, Yi Dong, Yue Sheng, Ya-Dong Guo, Ya-Dong Guo, Ya-Dong Guo, Rong Xiang, Rong Xiang, Rong Xiang   +9 more
doaj   +1 more source