Keywords: Nucleoskeleton; Envelopathies; Progeria; Myopathy; Neuropathy; Lipodystrophy; Nonalcoholic Fatty Liver Disease; BANF1; barrier to autointegration factor; EDMD; Emery-Dreifuss muscular dystrophy; FTI; farnesyl transferase inhibitor; FPLD2; type 2 (Dunnigan
مقالات ISI (ترجمه نشده)
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Keywords: POMC; pro-opiomelanocortin; NPY; neuropeptide Y; AgRP; agouti-related peptide; PCOS; polycystic ovary syndrome; BAT; brown adipose tissue; WAT; white adipose tissue; Myf5; myogenic factor 5; PRDM16; PRD1-BF1-RIZ1 homologous domain containing 16; UCP1; the
Keywords: Congenital muscular dystrophy; Prevalence; Dystroglycanopathies; ISPD; GMPPB; B3GALTN2; COL6A1-A2-A3; LAMA2; SEPN1; LMNA;
Keywords: Diabetes; Insulin resistance; Lipodystrophy; LMNA; PPARG; FPLD; familial partial lipodystrophy; TuLip; Turkish Lipodystrophy Study Group; WB-MRI; whole body magnetic resonance imaging; LMNA; lamin A/C; LMNB2; lamin B2; PPARG; peroxisome proliferator activ
Keywords: AVB; Atrio-ventricular block; CMR; Cardiovascular magnetic resonance; ECG; Electrocardiogram; IHD; Ischemic heart disease; LGE; Late gadolinium enhancement; LMNA; Lamin A/C; LV; Left ventricle; NIHD; Non-ischemic heart disease; PM; Pace-maker; RV; Right v
Keywords: ARVC; arrhythmogenic right ventricular cardiomyopathy/dysplasia; BrS; Brugada syndrome; CI; confidence interval; CPVT; catecholaminergic polymorphic ventricular tachycardia; HCM; hypertrophic cardiomyopathy; ICD; implantable cardioverter-defibrillator; LM
Keywords: 5HT2C receptor; a subtype of 5-hydroxytryptamine receptor that binds the neurotransmitter serotonin; AgRP; agouti-related peptide; AITD; autoimmune thyroid disease; Akt1; a serine-threonine protein kinase; ARC; hypothalamic arcuate nucleus; BMI; Body-Ma
Keywords: MSCs; mesenchymal stem cells; LMNA; lamin A; PG; progerin; UC; umbilical cord; HGPS; Hutchinson-Gilford Progeria Syndrome; OA; osteoarthritis; ROS; reactive oxygen species; MnSODM; manganese superoxide dismutase; ECM; extracellular matrix; DMEM; Dulbecc
Keywords: Emery–Dreifuss; LMNA; EMD; Muscle MRI; Muscle CT; Muscle dystrophy
Part A: Temporal and dose-dependent transcriptional responses in the liver of fathead minnows following short term exposure to the polycyclic aromatic hydrocarbon phenanthrene
Keywords: SREBF1; sterol regulatory element binding transcription factor 1; FASN; fatty acid synthase; HSD17B12; hydroxysteroid (17-beta) dehydrogenase 12; ACACA; acetyl-CoA carboxylase alpha; CYB5A; cytochrome b5 type A (microsomal); SLC27A4; solute carrier family
Distrofias musculares congénitas
Keywords: Distrofia muscular; merosina; colágeno VI; SEPN1; LMNA; distroglicano; algoritmo diagnóstico; Muscular dystrophy; merosin; collagen VI; SEPN1; Lamin A/C; Dystroglycan; diagnostic guideline.;
Case ReportDropped head congenital muscular dystrophy caused by de novo mutations in LMNA
Keywords: L-CMD; Lamin A/C-related congenital muscular dystrophy; LMNA; Lamin A/C gene; MRI; magnetic resonance imaging; EMG; electromyography; Dropped head; LMNA-related congenital muscular dystrophy; Lamin A/C gene; White matter;
Communication brèveUn diabète particulièrement compliquéA complex case of diabetes due to LMNA mutation
Keywords: Laminopathies; LMNA; Lipodystrophies familiales partielles; Diabète; Myalgies; Cardiopathie; Transmission autosomique dominante; Laminopathies; LMNA; Familial partial lipodystrophy; Diabetes mellitus; Myopathy; Cardiopathy; Dominant autosomal transmissio
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
Keywords: Lipodystrophy; POLD1 gene; Whole-exome sequencing; MDPL syndrome; ZnF2; MDPL; Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome; POLD1; Polymerase (DNA directed), delta 1, catalytic subunit; MAD; Mandibuloacral dysplasia; ZMPS
A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family
Keywords: Mutation; LMNA; Exome Sequencing; Atrial fibrillation
Case reportAn elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles
Keywords: LMNA; Laminopathy; Limb-girdle muscular dystrophy type 1B; Pseudo-hypertrophy; Late-onset;
LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort
Keywords: LMNA; Arrhythmogenic right ventricular cardiomyopathy; Desmosome; PKP2; Pacemaker therapy
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A
Keywords: MADA, mandibuloacral dysplasia type A; MADB, mandibuloacral dysplasia type B; LMNA, lamin A; ZMPSTE24, Zinc Metallopeptidase STE24; PND, Prenatal DiagnosisMandibuloacral dysplasia; LMNA; Genetic testing; Genetic counseling
Influence of the APOE genotype on hepatic stress response: Studies in APOE targeted replacement mice and human liver cells
Keywords: AD; Alzheimer's disease; APOE; apolipoprotein E; ATP; adenosine triphosphate; ATP5A1; ATP synthase subunit alpha, mitochondrial; B2M; beta-2 microglobulin; BAX; BCL2-associated X protein; BCL2; B-cell leukemia/lymphoma 2; BiP; binding immunoglobulin prote
Original ArticleKeratinocytes/EpidermisConstitutive Autophagy and Nucleophagy during Epidermal Differentiation
Keywords: AKT; acutely transforming retrovirus AKT8 in rodent T-cell lymphoma; HP1α; heterochromatin protein 1α; LMNA; lamin A; LMNB1; lamin B1;
Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy
Keywords: Dilated cardiomyopathy; LMNA; Sudden cardiac death; Plasma biomarkers;
A rare mutation in MYH7 gene occurs with overlapping phenotype
Keywords: MYH7; Left ventricular non-compation; Cardiomyopathy; FTD; Laing Distal Myopathy; Overlapping syndrome; ACTA1; actin 1; CPK; creatine phosphokinase; CFTD; Congenital Fiber Type Disproportion; COX; cytochrome C oxidase; DES; desmin; EMG; electromyography;
Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study
Keywords: Dilated Cardiomyopathy; LMNA; Single Nucleotide Polymorphism; Echocardiography
A novel lamin A/C mutation in a Dutch family with premature atherosclerosis
Keywords: LMNA; Premature atherosclerosis; FPLD; Lipodystrophy;
Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications
Keywords: AA; arachidonic acid; AV-block; atrioventricular block; CI; confidence interval; DCM; dilated cardiomyopathy; ICD; implantable cardioverter defibrillator; HR; hazard ratio; LMNA; lamin A/C gene; LVEF; left ventricular ejection fraction; MPV; mean platelet
Generation and characterization of a conditional deletion allele for Lmna in mice
Keywords: Lamins; Laminopathies; Lmna; Conditional knockout; Gene targeting; Cre-loxP;
Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients
Keywords: Fanconi anemia; Oxidative stress; Cell structure; 2D-PAGE; two dimensional polyacrylamide gel electrophoresis; AML; acute myeloid leukemia; BM; bone marrow; DSBs; double strand breaks; ER; endoplasmic reticulum; GRP94; glucose response protein 94; HSC; hu
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins
Keywords: Dilated cardiomyopathy; LMNA; Laminopathies; Premature termination codon mutation; Nonsense mediated mRNA decay; Haploinsufficiency
LMNA mutation in progeroid syndrome in association with strokes
Keywords: HGPS; LMNA; Progeria; Laminopathies
Inflammatory changes in infantile-onset LMNA-associated myopathy
Keywords: Inflammatory myopathy; Laminopathy; Emery-Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; Congenital muscular dystrophy; LMNA; Infantile; Pathology; Steroid therapy; Muscle image;
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
Keywords: Dilated cardiomyopathy; Molecular diagnosis; LMNA; MYH7; TNNT2; RBM20
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family
Keywords: familial partial lipodystrophy (FPLD); LMNA; lamin A/C; laminopathiesrodzinna częściowa lipodystrofia; LMNA; lamina A/C; laminopatie
Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people
Keywords: Late-onset Alzheimer’s disease; Dementia; Cognitive function; Cognitive impairment; Gene; Single nucleotide polymorphism; ApoE; LMNA
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24
Keywords: Mandibuloacral dysplasia; ZMPSTE24; LMNA; Bisphosphonate; Skeletal phenotype
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
Keywords: EDMD2; LMNA; COL VI; CT scanner
Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A–type lamins
Keywords: CLEM, Controlled light exposure microscopy; FTI, Farnesyltransferase inhibitor; HDF, Human dermal fibroblast; HGPS, Hutchinson–Gilford progeria syndrome; MSD, Mean square displacement; NE, Nuclear envelope; SEM, Standard error of the meanLamin A/C; LMNA;
Roles of Werner syndrome protein in protection of genome integrity
Keywords: γ-H2AX; phosphorylated histone H2AX; 4-NQO; 4-nitroquinoline 1-oxide; 5-OHdC; 5-hydroxycytidine; 5-OHU; 5-hydroxyuracil; 8-oxodA; 8-oxoadenine; 8-oxodG; 8-oxoguanine; ALT; alternative lengthening of telomeres; APE1; apurinic/apyrimidinic endonuclease 1;
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene
Keywords: DCM, Dilated Cardiomyopathy; HRMA, High Resolution Melting Analysis; DHPLC, Denaturing High-Performance Liquid ChromatographyMutations; Laminopathies; Dilated cardiomyopathy; High resolution melting; DHPLC; LMNA
Lipodystrophies: Disorders of adipose tissue biology
Keywords: Lipodystrophy; AGPAT2; BSCL2; CAV1; LMNA; PPARG; AKT2; ZMPSTE24; Lipid droplet; Acyltransferase
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation
Keywords: Lamin A/C; LMNA; Hutchinson-Gilford progeria
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
Keywords: Cardiac conduction defects; LMNA; Muscle MRI;
Muscle intermediate filaments and their links to membranes and membranous organelles
Keywords: Ank; ankyrin; ANT; adenine nucleotide translocator; BLOC-1; biogenesis of lysosomes-related organelle complex-1; BMSC; bone marrow stem cells; CK; creatine kinase; CMT; Charcot-Marie-Tooth; DG; dystroglycan; EDMD; Emery-Dreyfuss muscular dystrophy;
Laminopathies: Multisystem dystrophy syndromes
Keywords: Laminopathy; Lipodystrophy; Progeria; Muscular dystrophy; Lamin A/C; LMNA
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy
Keywords: LMNA; Deletion; EDMD; Neurogenic variant;
Co-segregation of LMNA and PMP22 gene mutations in the same family
Keywords: LGMD1B; HNPP; LMNA; PMP22;