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Biochemical and Biophysical Research Communications, ISSN 0006-291X, 04/2019, Volume 512, Issue 1, pp. 22 - 28
The C-terminal Ig-domain of lamin A plays critical roles in cell function via interaction with proteins, DNA, and chromatin. Mutations in this domain are known... 
Ig-domain | Laminopathy | Thermal stability | Lamin A | LAMINOPATHIES | NUCLEAR LAMINS | BIOPHYSICS | BIOCHEMISTRY & MOLECULAR BIOLOGY
Journal Article
Diabetes & Metabolism, ISSN 1262-3636, 09/2019, Volume 45, Issue 4, pp. 382 - 389
Mutations of the gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study... 
Lipodystrophy | Rhythm disorders | Laminopathy | Coronary artery disease | LMNAgene | Index Medicus
Journal Article
Journal Article
Revista Portuguesa de Cardiologia, ISSN 0870-2551, 02/2015, Volume 34, Issue 2, pp. 139.e1 - 139.e5
Introduction The LMNA gene encodes a group of proteins that have an important structural and functional role in the cell nucleus. Mutations in this gene have... 
LMNA genemutations | Dilated cardiomiopathy | Laminopathy
Journal Article
Revue de Medecine Interne, ISSN 0248-8663, 2014, Volume 35, Issue 9, pp. 617 - 620
Introduction: Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are... 
Arrhythmia | Dilated cardiomyopathy | Laminopathy | Myopathy
Journal Article
Bone, ISSN 8756-3282, 08/2019, Volume 125, pp. 103 - 111
Children with Hutchinson-Gilford progeria syndrome (HGPS), a rare premature aging disease, exhibit extraskeletal calcifications detected by radiographic... 
Lamin | HGPS | Parathyroid hormone | Laminopathy | Progeria | Aging | Magnesium | Extraskeletal calcifications | PSEUDOXANTHOMA ELASTICUM | CLINICAL-TRIAL | CHILDREN | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | FARNESYLATION INHIBITORS | CALCINOSIS | Analysis | Calcium carbonate
Journal Article
Russian Journal of Cardiology, ISSN 1560-4071, 2019, Volume 24, Issue 4, pp. 35 - 47
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... 
genetic testing | LMNA | RBM20 | gene mutations | dilated cardiomyopathy | laminopathy
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2005, Volume 102, Issue 36, pp. 12879 - 12884
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2013, Volume 288, Issue 42, pp. 30192 - 30209
Background: Nuclear membrane protein emerin binding to nuclear intermediate filaments (lamins) and BAF contributes to forming a nuclear “lamina” structure.... 
Nuclear Matrix | Lamin | Nucleoskeleton | Nuclear Membrane | Emerin | Cardiomyopathy | Non-histone Chromosomal Proteins | Laminopathy | Muscular Dystrophy | Chromosomes | O-GlcNAc | Cell Biology
Journal Article
Nucleus, ISSN 1949-1034, 12/2018, Volume 9, Issue 1, pp. 314 - 320
Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine... 
lamin A/C | emerin | cardiomyopathy | Emery-Dreifuss muscular dystrophy | laminopathy | NUCLEAR-ENVELOPE ALTERATIONS | LMNA GENE | CARDIAC-DISEASE | LAMIN-A/C GENE | PARTIAL LIPODYSTROPHY | DIAGNOSTIC-APPROACH | DILATED CARDIOMYOPATHY | CELL BIOLOGY | SKELETAL-MUSCLE | CAUSE AUTOSOMAL-DOMINANT | MUTATIONS
Journal Article
Family Medicine and Primary Care Review, ISSN 1734-3402, 10/2015, Volume 17, Issue 4, pp. 327 - 329
Journal Article
The FEBS Journal, ISSN 1742-464X, 06/2018, Volume 285, Issue 12, pp. 2243 - 2262
Lamins are key nuclear proteins which are important for maintaining nuclear structure and function. Mutations in lamins cause a spectrum of genetic diseases... 
nuclear lamina | nuclear organization | ubiquitination | protein degradation | laminopathy | NUCLEAR LAMINS | A-TYPE LAMINS | PROTEASOMAL DEGRADATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL-CYCLE PROGRESSION | GENOMIC INSTABILITY | LAMINOPATHIES | RETINOBLASTOMA PROTEIN | DISEASE | DREIFUSS MUSCULAR-DYSTROPHY | DIFFERENTIATION | Green Fluorescent Proteins | Cell Proliferation | Lamin Type B - genetics | Humans | DNA-Binding Proteins - metabolism | Ubiquitination | Cell Nucleus - metabolism | Proteolysis | Mass Spectrometry | Cloning, Molecular | HEK293 Cells | Membrane Proteins - metabolism | Nuclear Proteins - genetics | Genes, Reporter | Recombinant Proteins - metabolism | Gene Expression | Membrane Proteins - genetics | Retinoblastoma Protein - metabolism | Ubiquitin-Protein Ligases - metabolism | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | Lamin Type A - metabolism | DNA-Binding Proteins - genetics | Plasmids - metabolism | Lamin Type B - metabolism | Retinoblastoma Protein - genetics | Lamin Type A - genetics | Plasmids - chemistry | Protein Processing, Post-Translational | HeLa Cells | Mutation | Proteasome Endopeptidase Complex - metabolism | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Binding proteins | Ligases | Mass spectrometry | Protein binding | Binding | Nuclear structure | Transcription | Retinoblastoma protein | Mass spectroscopy | Lamins | Mutants | Proteins | Degradation | Cell cycle | Proteasomes | Kinetics | Retinoblastoma | Ubiquitin-protein ligase | Structure-function relationships | Index Medicus
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 12/2006, Volume 140A, Issue 23, pp. 2603 - 2624
Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature low body weight, early loss of hair,... 
GILFORD-PROGERIA | PATERNAL ORIGIN | Lamin A/C | nuclear envelope | AUTOSOMAL RECESSIVE INHERITANCE | PATHOLOGIC FINDINGS | natural history | ZMPSTE24 | MANDIBULOACRAL DYSPLASIA | management | LAMIN-A | DISEASE | MUTATION | GENETICS & HEREDITY | CEREBRAL INFARCTION | laminopathy
Journal Article