Results 121 to 130 of about 22,553 (288)

Prediction and prognostic role of left ventricular systolic dysfunction in family screening for dilated cardiomyopathy and non‐dilated left ventricular cardiomyopathy

European Journal of Heart Failure, EarlyView.
Aims The prognostic significance of detecting left ventricular (LV) systolic dysfunction during family screening programmes (FSPs) in relatives of probands affected by dilated (DCM) and non‐dilated left ventricular (NDLVC) cardiomyopathies remain unclear.
Eva Del Mestre, Alessia Paldino, Carola Pio Loco Detto Gava, Ilaria Gandin, Marta Gigli, Davide Stolfo, Martina Setti, Giovanni Maria Severini, Beatrice Spedicati, Stefania Lenarduzzi, Giorgia Girotto, Alessandro Folgheraiter, Jacopo Giulio Rizzi, Renata Korcova, Luisa Mestroni, Marco Merlo, Matteo Dal Ferro, Gianfranco Sinagra   +17 more
wiley   +1 more source

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Cells, 2020
LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include roles in
A. Bertrand, A. Brull, F. Azibani, L. Benarroch, K. Chikhaoui, C. Stewart, O. Medalia, R. Ben Yaou, G. Bonne   +8 more
semanticscholar   +1 more source

Integrated role of cardiac magnetic resonance and genetics in predicting left ventricular reverse remodelling in dilated and non‐dilated cardiomyopathy

European Journal of Heart Failure, EarlyView.
An integrated approach including late gadolinium enhancement data and genetics to predict left ventricular reverse remodelling in patients with dilated and non‐dilated left ventricular cardiomyopathy. DSP, desmoplakin; FLNC, filamin C; LMNA, lamin A/C; LVRR, left ventricular reverse remodelling; LGE, late gadolinium enhancement; MVA, major ventricular ...
Martina Setti, Manuela Iseppi, Job A.J. Verdonschot, Jacopo G. Rizzi, Alessia Paldino, Carola Pio Loco Detto Gava, Giulia Barbati, Matteo Dal Ferro, Max F.G.H.M. Venner, Anne G. Raafs, Marta Gigli, Davide Stolfo, Antonio De Luca, Giulia De Angelis, Teresa M. Capovilla, Sharon Graw, Flavio L. Ribichini, Matthew Taylor, Luisa Mestroni, Stephane R.B. Heymans, Gianfranco Sinagra, Marco Merlo   +21 more
wiley   +1 more source

Edinger-Westphal Nucleus [PDF]

, 2008
This report contains a summary of expression patterns for genes that are enriched in the Edinger-Westphal nucleus (EW) of the midbrain. All data are derived from the Allen Brain Atlas (ABA) in situ hybridization mouse project.
Allen Institute for Brain Science, Angela L. Guillozet-Bongaarts, Josh J. Burnell, Lydia L. Ng   +3 more
core   +2 more sources

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Journal of Medical Genetics, 2020
Background LMNA-related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-phenotype ...
Yanbin Fan, D. Tan, D. Song, Xu Zhang, X. Chang, Zhaoxia Wang, Cheng Zhang, S. Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, L. Ge, Hai-po Yang, B. Mao, C. Bönnemann, Jingying Liu, Su-xia Wang, Yun Yuan, Xi-ru Wu, Hong Zhang, H. Xiong   +21 more
semanticscholar   +1 more source

Age‐related penetrance of phospholamban p.Arg14del cardiomyopathy

European Journal of Heart Failure, EarlyView.
Age‐related penetrance of phospholamban (PLN) p.Arg14del cardiomyopathy. ECG, electrocardiogram; ICD, implantable cardioverter‐defibrillator; LVAD, left ventricular assist device; LVEF, left ventricular ejection fraction; MRI, magnetic resonance imaging; PVC, premature ventricular contraction; SCD, sudden cardiac death; VF, ventricular fibrillation; VT,
Tom E. Verstraelen, Freyja H.M. van Lint, Remco de Brouwer, Virginnio M. Proost, Esmee van Drie, Laurens P. Bosman, Lotte Weverink, Karim Taha, Thais Bueren, Aeilko H. Zwinderman, Cathelijne Dickhoff, Toon Oomen, Bas A. Schoonderwoerd, Tjeerd Germans, Arjan C. Houweling, Juan R. Gimeno‐Blanes, Folkert W. Asselbergs, Paul A. van der Zwaag, Anneline S.J.M. te Riele, Rudolf A. de Boer, Maarten P. van den Berg, J. Peter van Tintelen, Arthur A.M. Wilde   +22 more
wiley   +1 more source

Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]

, 2016
published_or_final_versio
Jiang, Y, Lai, KWH, Lau, VYM, Lee, YK, Ng, KM, RAN, X, Siu, DCW, Tse, HF   +7 more
core   +1 more source

DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations

Circulation Research, 2019
Rationale: Mutations in the LMNA gene, encoding LMNA (lamin A/C), are responsible for laminopathies. Dilated cardiomyopathy (DCM) is a major cause of mortality and morbidity in laminopathies. Objective: To gain insights into the molecular pathogenesis of
S. Chen, R. Lombardi, Jennifer Karmouch, Ju-Yun Tsai, G. Czernuszewicz, Matthew R. G. Taylor, L. Mestroni, C. Coarfa, Priyatansh Gurha, A. Marian   +9 more
semanticscholar   +1 more source

Genotype‐guided cardiac device intervention in LMNA‐related cardiac conduction disorder: The need for timely genetic testing

European Journal of Heart Failure, EarlyView.
Sudden cardiac death is a catastrophic event, making its prevention important. However, patient selection for primary prevention remains controversial. We report two cases of cardiac conduction disorder initially treated with permanent pacemaker implantation.
Shunsuke Inoue, Zhehao Dai, Tsukasa Oshima, Seitaro Nomura, Takashi Hiruma, Ryo Abe, Kanna Fujita, Manami Katoh, Toshiyuki Ko, Yu Shimizu, Masamichi Ito, Kenichiro Yamagata, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Katsuhito Fujiu, Norihiko Takeda, Issei Komuro   +19 more
wiley   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source