Lamin A/C gene
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case
... the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as ...with lamin ...
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Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival
... site. C) Schematic of Dusp4 genomic sequence, the positions of primer sets (black and grey arrows), and the amplicon sizes the indicate primers generate (upper ...
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Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
... also non-CAD pattern was documented in seven sub- jects [20]. A healthy control group of DCM patients in study by Zimmerman et al [18] showed no myocardial LGE. As LGE imaging is widely used as a gold standard in cardiac ...
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Cardioembolic stroke related to limb girdle muscular dystrophy 1B
... Background: Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B. Here we present a young stroke patient who had a novel lamin A/C gene (LMNA) ...
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Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
... the lamin A/C gene (LMNA) cause a variety of human diseases including Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy, and Hutchinson-Gilford progeria ...of lamin mutations are ...
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A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
... A/C gene (LMNA) mutations have been causally linked to dilated cardiomyopathy (DCM), accounting for 6% to 8% of all idiopathic DCM up to 40% when con- duction disorders are present ...
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Molecular Genetic Analysis of the Nested Drosophila melanogaster Lamin C Gene
... LMNA gene knock-out and mutant LMNA gene knock-in transgenic mice have provided important insights into disease ...mutated lamin A/C proteins (H222P and L530P) exhibit phenotypes similar to ...
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SUN2 Modulates HIV 1 Infection and Latency through Association with Lamin A/C To Maintain the Repressive Chromatin
... and gene expression ...viral gene expression through promotion of transcriptional elongation mediated by RNA polymerase II ...the C-terminal domain (CTD) of RNAPII ...LTR-driven gene ...
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Lamin B1 regulates somatic mutations and progression of B cell malignancies
... nuclear Lamin B1 results in acute proliferation boost, de-novo surface antigen expression and AICDA- dependent somatic ...total Lamin B1 protein level was assessed by western blotting 48 h post ...(b, ...
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Circulation autoantibody against Lamin A/C in patients with Sjögren’s syndrome
... the gene expression. Lamin A/C has been confirmed as an autoantigen in RA, SLE and ...confirm Lamin A/C is an autoantigen in Han Chinese patients with confirmed Sjögren’s syndrome ...of ...
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Reorganization of Nuclear Pore Complexes and the Lamina in Late-Stage Parvovirus Infection
... lamins. Lamin proteins comprise two subtypes, type A (lamin A, A10, C, and C2) and type B (B1, B2, and ...LMNA gene, and the latter are encoded by LMNB1 (B1) and LMNB2 (B2 and germ ...
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Effects of Lamin A/C, Lamin B1, and Viral US3 Kinase Activity on Viral Infectivity, Virion Egress, and the Targeting of Herpes Simplex Virus UL34-Encoded Protein to the Inner Nuclear Membrane
... of lamin A/C have been described previously ...talized lamin A/C knockout mouse embryonic fibroblast (MEF) cell line lacking the gene encoding lamin A/C (LmnA ⫺/⫺ ) was a ...
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Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C–deficient mice
... LMNA gene: lamins A, C, Aδ10, and ...A, C, and B2 are present in the adult heart ...the lamin scaffolding may contribute to the internal stability of the nuclear ...
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The role of Drosophila Lamin C in muscle function and gene expression
... wild-type Lamin C was expressed by the C57 driver, Ftz-F1 is expressed during the mid-prepupal period of development (6-8 hours APF; ...expressing Lamin C N via the C57 driver, Ftz-F1 mRNA ...
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Interruption of progerin–lamin A/C binding ameliorates Hutchinson Gilford progeria syndrome phenotype
... a gene product of HGPS cells derived from an aberrant splicing process (6, 7), is also detected in non-HGPS aged cells (8, ...leoplasmic lamin A (10, 11), whereas progerin downregulation res- cues nuclear ...
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“PROGERIA: A REVIEW” by Singh Neelam, Maurya Krishna, Semwal BC, Paswan Shravan, Singh Kuldeep, Singh Deepak, India.
... LMNA gene encodes three A-type lamins: lamin A (LA), lamin C, and lamin A ...delta-10. Lamin A contains a C-terminal CAAX box, which undergoes methyl esterification and ...
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Reduced expression of lamin A/C correlates with poor histological differentiation and prognosis in primary gastric carcinoma
... 4]. The A-type lamins, lamins A and C, are synthesized from alternatively spliced transcripts of lamin A gene (LMNA) [9,10]. A-type lamins are absent in early embry- onic development and in certain ...
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Nuclear envelope structural defects cause chromosomal numerical instability and aneuploidy in ovarian cancer
... or lamin A/C [23] produces nuclear morphological deformation. Lamin A and lamin C are differentially spliced forms of the same gene and differ only at the C-terminal ...
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The clinicopathological significance of lamin A/C, lamin B1 and lamin B receptor mRNA expression in human breast cancer
... A, lamin B and lamin B receptor (LBR), are nuclear proteins that are found on the inner side of the nuclear ...and C make up the nuclear lamina, interacting with many integral membrane proteins of ...
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Cell Biology of the Caenorhabditis elegans Nucleus
... The compartmentalization of eukaryotic cells, with RNA tran- scription taking place in the nucleus and protein translation occurring in the cytoplasm, provides several points of regu- lation of gene expression. In ...
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