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   Articles with "lmna" as a keyword



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2035 – AGE-RELATED DOWNREGULATION OF LMNA IMPACTS HUMAN HEMATOPOIETIC STEM CELL FUNCTION

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recommendations! Published in 2019 at "Experimental Hematology"

DOI: 10.1016/j.exphem.2019.09.004

Abstract: Hematopoietic stem cells, essential for the production of blood cells, decline in function with aging. Among these changes with aging are increased frequency of mutations in epigenetic modifiers. We analyzed the epigenetic landscape of Lineage-CD34+CD38-… read more here.

Keywords: cd34; lmna; hematopoietic stem; function ... See more keywords
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Expression of Lmna-R225X nonsense mutation results in dilated cardiomyopathy and conduction disorders (DCM-CD) in mice: Impact of exercise training.

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recommendations! Published in 2019 at "International journal of cardiology"

DOI: 10.1016/j.ijcard.2019.09.058

Abstract: AIMS To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential… read more here.

Keywords: lmna r225x; lmna; mice; conduction ... See more keywords

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells

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recommendations! Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-23918-x

Abstract: LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles… read more here.

Keywords: lmna mutated; smad6 overexpression; lmna; differentiation ... See more keywords
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Myxoid Spindle Cell Sarcoma With LMNA-NTRK Fusion: Expanding the Morphologic Spectrum of NTRK-Rearranged Tumors

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recommendations! Published in 2020 at "International Journal of Surgical Pathology"

DOI: 10.1177/1066896920905888

Abstract: Neurotrophic tyrosine receptor kinase (NTRK)-rearranged spindle cell neoplasm is a recently described soft tissue tumor entity that occurs predominantly in children and young adults. The diagnosis of this tumor is difficult due to the nonspecific… read more here.

Keywords: sarcoma; ntrk rearranged; lmna; spindle cell ... See more keywords
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LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient

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recommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2022.932956

Abstract: Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of… read more here.

Keywords: r249q genetic; lmna; genetic variant; sodium ... See more keywords
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Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms232012230

Abstract: Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is of familial origin in 20–40% of cases. Genetic testing by next-generation sequencing (NGS) has yielded a definite diagnosis in many cases; however,… read more here.

Keywords: family; nanopore long; lmna; ipsc cms ... See more keywords
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Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype

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recommendations! Published in 2021 at "Neurology India"

DOI: 10.4103/0028-3886.333448

Abstract: Background: Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature. Objectives and Materials… read more here.

Keywords: congenital muscular; muscular dystrophy; lmna; next generation ... See more keywords