Results 81 to 90 of about 14,545 (178)

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models

Pharmaceuticals
Variants (pathogenic) of the LMNA gene are a common cause of familial dilated cardiomyopathy (DCM), which is characterised by early-onset atrioventricular (AV) block, atrial fibrillation and ventricular tachyarrhythmias (VTs), and progressive heart ...
Xin-Yi Wu, Yee-Ki Lee, Yee-Man Lau, Ka-Wing Au, Yiu-Lam Tse, Kwong-Man Ng, Chun-Ka Wong, Hung-Fat Tse   +7 more
doaj   +1 more source

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

International Journal of Cardiology: Heart & Vasculature, 2015
Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions.
Avinanda Banerjee, Pradip K. Ghoshal, Kaushik Sengupta   +2 more
doaj   +1 more source

[A complex case of diabetes due to LMNA mutation].

La Revue de medecine interne, 2017
IntroductionLes laminopathies (maladies liées aux mutations des lamines A/C) sont des maladies génétiques rares, au spectre phénotypique étendu, incluant les syndromes lipodystrophiques (se caractérisant par une perte sélective de tissu adipeux), dont la forme familiale partielle de type Dunnigan est la plus fréquente.ObservationIl s’agit d’une ...
Ambonville, C., Bouldouyre, M.-A., Laforêt, P., Richard, P., Benveniste, Olivier, Vigouroux, C.   +5 more
openaire   +2 more sources

Lamin A/C deficiency-mediated ROS elevation contributes to pathogenic phenotypes of dilated cardiomyopathy in iPSC model

Nature Communications
Mutations in the nuclear envelope (NE) protein lamin A/C (encoded by LMNA), cause a severe form of dilated cardiomyopathy (DCM) with early-onset life-threatening arrhythmias.
Hangyuan Qiu, Yaxun Sun, Xiaochen Wang, Tingyu Gong, Jun Su, Jiaxi Shen, Jingjun Zhou, Jiafeng Xia, Hao Wang, Xiangfu Meng, Guosheng Fu, Donghui Zhang, Chenyang Jiang, Ping Liang   +13 more
doaj   +1 more source

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

Revista Portuguesa de Cardiologia, 2017
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated ...
Ana Rita G. Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito   +5 more
doaj   +1 more source

Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy

JAMA Cardiology
ImportancePrior studies have suggested that patients with nonmissense (ie, truncating) variants causing LMNA cardiomyopathy have worse arrhythmic outcomes compared to those with missense variants. However, the effect of the spatial distribution of missense and truncating variants on clinical outcomes remains poorly understood.ObjectiveTo determine the ...
Bhaskaran, Ashwin, Ben Yaou, Rabah, Helms, Adam S., Fayssoil, Abdallah, Richard, Pascale, Stojkovic, Tanya, Anselme, Frédéric, Labombarda, Fabien, Chikhaoui, Cathy, De Sandre-Giovannoli, Annachiara, Jeru, Isabelle, Leturcq, France, Vigouroux, Corinne, Dembele, Mohamed, Elliott, Perry, Savvatis, Konstantinos, Zeppenfeld, Katja, Bouguerra, Hassina, Charron, Philippe, Kumar, Saurabh, Bonne, Gisèle, Wahbi, Karim, Lakdawala, Neal K.   +22 more
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Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function LMNA mutation

Nucleus
Over the past 25 years, nuclear envelope (NE) perturbations have been reported in various experimental models with mutations in the LMNA gene. Although the hypothesis that NE perturbations from LMNA mutations are a fundamental feature of striated muscle ...
Jason C. Choi
doaj   +1 more source

Olmesartan Restores LMNA Function in Haploinsufficient Cardiomyocytes

Circulation
BACKGROUND: Gene mutations are responsible for a sizeable proportion of cases of heart failure. However, the number of patients with any specific mutation is small. Repositioning of existing US Food and Drug Administration–approved compounds to target specific mutations is a promising approach to efficient identification of new
Eric J. Kort, Nazish Sayed, Chun Liu, Gema Mondéjar-Parreño, Jens Forsberg, Emily Eugster, Sean M. Wu, Joseph C. Wu, Stefan Jovinge   +8 more
openaire   +2 more sources

N of 2 Responders With LMNA-NTRK1 [PDF]

JNCI: Journal of the National Cancer Institute, 2015
Chih-Jian, Lih, Alice P, Chen
openaire   +2 more sources

LMNA Gene [PDF]

, 2020
openaire   +1 more source