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BMC CARDIOVASCULAR DISORDERS, ISSN 1471-2261, 07/2019, Volume 19, Issue 1, pp. 169 - 5
Background: Anthracyclines are highly effective anticancer medication prescribed for the treatment of breast cancer. Nevertheless, the use of anthracyclines as... 
CARDIAC & CARDIOVASCULAR SYSTEMS | Dilated cardiomyopathy | Antrhacyclines | HEART-FAILURE | Breast cancer | Cardiotoxicity | LMNA gene | Heart | Medical research | Care and treatment | Anthracyclines | Genes | Development and progression | Mediation | Risk factors | Cardiomyopathy, Dilated | Chemotherapy | Gene mutations | Medicine, Experimental | Genetic research | Genetic aspects | Health aspects | Cancer
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 2267 - 16
Journal Article
Adipocyte, ISSN 2162-3945, 01/2019, Volume 8, Issue 1, pp. 280 - 291
We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental... 
lamin A/C | Laminopathy | adipocyte differentiation | insulin resistance | DNA damage | MANDIBULOACRAL DYSPLASIA | LMNA | ENDOCRINOLOGY & METABOLISM | LIPOATROPHY | DELETION
Journal Article
Biochemistry and Biophysics Reports, ISSN 2405-5808, 09/2019, Volume 19, p. 100664
A-type lamins gene ( ) mutations cause an autosomal dominant inherited form of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is characterized by slowly... 
Genetic background | A-type lamins | Cardiomyopathy | Mouse models | LMNA
Journal Article
CLINICAL NEUROPATHOLOGY, ISSN 0722-5091, 09/2019, Volume 38, Issue 5, pp. 225 - 232
Introduction: Next-generation sequencing in cases of hereditary neuromuscular disorders often yields multiple candidate gene variants. Here, we describe a case... 
exostosin glycosyl-transferase 2 | PHENOTYPE | DILATED CARDIOMYOPATHY | MYOPATHY | PATHOLOGY | LMNA MUTATIONS | CLINICAL NEUROLOGY | limb-girdle muscular dystrophy | lamin A/C | multiple exostoses | LAMIN | GENE | MISSENSE MUTATION | cardiomyopathy | ONSET
Journal Article
PLOS ONE, ISSN 1932-6203, 08/2019, Volume 14, Issue 8
Laminopathies are tissue-selective diseases that affect differently in organ systems. Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes,... 
NUCLEAR-ENVELOPE | LAMINOPATHIES | ACTIVATION | INHIBITION | MULTIDISCIPLINARY SCIENCES | MUTATION | LMNA | MOUSE | DREIFUSS MUSCULAR-DYSTROPHY | DILATED CARDIOMYOPATHY | MEMBRANE-PROTEINS
Journal Article
CURRENT OPINION IN LIPIDOLOGY, ISSN 0957-9672, 08/2019, Volume 30, Issue 4, pp. 284 - 290
Purpose of review Lipodystrophy syndromes have an estimated prevalence of 1.3-4.7 cases per million and as with other rare diseases conducting research can be... 
METABOLIC SYNDROME | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | LEPTIN LEVELS | DOMINANT-NEGATIVE MUTATIONS | leptin | FAT DISTRIBUTION | DIABETES-MELLITUS | LMNA | ENDOCRINOLOGY & METABOLISM | PERILIPIN | PERIPHERAL VASCULAR DISEASE | PPARG | PLIN1 | REVERSES INSULIN-RESISTANCE | ASSOCIATION | lipodystrophy | ADIPOSE-TISSUE
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 07/2019, Volume 32, Issue 7, pp. 775 - 779
Background: Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging. The... 
atypical progeria syndrome | growth hormone deficiency | LMNA | LAMIN | MUTATION | ENDOCRINOLOGY & METABOLISM | PEDIATRICS
Journal Article
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 06/2019, Volume 10, p. 619
The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In... 
cardiovascular disease | DIAGNOSIS | CARDIOMYOPATHY | GUIDELINES | familial investigation | PRECISION MEDICINE | NEUROSCIENCES | CLINICAL NEUROLOGY | LGMDs | LMNA | calpainopathy | CAPN3 | NGS panel | MUTATIONS | Genetic aspects | Research | Diagnosis | Gene mutations | Muscular dystrophy
Journal Article
Revista Portuguesa de Cardiologia, ISSN 0870-2551, 06/2019, Volume 38, Issue 6, pp. 441 - 447
Dilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. In this work we aim to contribute... 
Transplante cardíaco | Next-generation sequencing | Dilated cardiomyopathy | Heart transplantation | Genetic variants | Miocardiopatia dilatada | Sequenciação de nova geração | Variantes genéticas | POSITION | CARDIAC & CARDIOVASCULAR SYSTEMS | LMNA | MUTATIONS
Journal Article
Russian Journal of Cardiology, ISSN 1560-4071, 2019, Volume 24, Issue 4, pp. 35 - 47
Dilated cardiomyopathy (DCM) is a complex, etiologically heterogeneous myocardial disease, which is one of the main causes of heart failure and heart... 
RBM20 | Genetic testing | Dilated cardiomyopathy | Gene mutations | Laminopathy | LMNA
Journal Article
Российский кардиологический журнал, ISSN 1560-4071, 05/2019, Issue 4, pp. 35 - 47
Dilated cardiomyopathy (DCM) is a complex, etiologically heterogeneous myocardial disease, which is one of the main causes of heart failure and heart... 
RBM20 | gene mutations | genetic testing | LMNA | dilated cardiomyopathy | laminopathy
Journal Article
CELLS, ISSN 2073-4409, 04/2019, Volume 8, Issue 4, p. 291
The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10... 
NUCLEAR-ENVELOPE ALTERATIONS | animal models | FARNESYLTRANSFERASE INHIBITOR | A-TYPE LAMINS | lamin A | FAMILIAL PARTIAL LIPODYSTROPHY | CHARCOT-MARIE-TOOTH | MUSCULAR-DYSTROPHY | striated muscle laminopathies | DILATED CARDIOMYOPATHY | DCM | CELL BIOLOGY | LGMD | CAUSE AUTOSOMAL-DOMINANT | EDMD | LAMIN A/C GENE | cellular models | L-CMD | LMNA-MUTATIONS CAUSE | lamin A/C
Journal Article