Nesprin-1 mutations in human and murine cardiomyopathy. - Wikidata - awgldk - TriplyDB

Nesprin-1 mutations in human and murine cardiomyopathy.

Nesprin-1 mutations in human and murine cardiomyopathy.

http://www.wikidata.org/entity/Q39599077

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Nesprin-3 regulates endothelial cell morphology, perinuclear cytoskeletal architecture, and flow-induced polarization Breaching the nuclear envelope in development and disease Compartmentalization role of A-kinase anchoring proteins (AKAPs) in mediating protein kinase A (PKA) signaling and cardiomyocyte hypertrophy The nuclear envelope: an intriguing focal point for neurogenetic disease The Nesprin family member ANC-1 regulates synapse formation and axon termination by functioning in a pathway with RPM-1 and β-Catenin Regulation of nucleocytoplasmic transport in skeletal muscle.Nuclear envelope: positioning nuclei and organizing synapses Nucleocytoplasmic connections and deafness.The interaction between nesprins and sun proteins at the nuclear envelope is critical for force transmission between the nucleus and cytoskeleton.Organelle positioning in muscles requires cooperation between two KASH proteins and microtubules.Translocating myonuclei have distinct leading and lagging edges that require kinesin and dynein The SUN protein UNC-84 is required only in force-bearing cells to maintain nuclear envelope architecture.Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.Integrative data mining highlights candidate genes for monogenic myopathies.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.Drosophila Syncrip modulates the expression of mRNAs encoding key synaptic proteins required for morphology at the neuromuscular junction.Inner nuclear membrane proteins: impact on human disease.KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development.Accessorizing and anchoring the LINC complex for multifunctionality.Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.Nesprins: tissue-specific expression of epsilon and other short isoforms.AKAPs: the architectural underpinnings of local cAMP signaling.Nesprin provides elastic properties to muscle nuclei by cooperating with spectraplakin and EB1.The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm.Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.A Disulfide Bond Is Required for the Transmission of Forces through SUN-KASH Complexes Genetic mutations and mechanisms in dilated cardiomyopathy Muscle development, regeneration and laminopathies: how lamins or lamina-associated proteins can contribute to muscle development, regeneration and disease.Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP).Nuclear mechanics and mechanotransduction in health and disease.Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles.Blood-based omic profiling supports female susceptibility to tobacco smoke-induced cardiovascular diseases.UnLINCing the nuclear envelope: towards an understanding of the physiological significance of nuclear positioning.The genetics of dilated cardiomyopathy.Nesprins: from the nuclear envelope and beyond.SUN proteins and nuclear envelope spacing Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

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P2860

Nesprin-1 mutations in human and murine cardiomyopathy.

http://www.wikidata.org/entity/Q39599077

description

2009 nî lūn-bûn

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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2009年论文

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2009年论文

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name

Nesprin-1 mutations in human and murine cardiomyopathy.

@en

Nesprin-1 mutations in human and murine cardiomyopathy.

@nl

type

label

Nesprin-1 mutations in human and murine cardiomyopathy.

@en

Nesprin-1 mutations in human and murine cardiomyopathy.

@nl

prefLabel

Nesprin-1 mutations in human and murine cardiomyopathy.

@en

Nesprin-1 mutations in human and murine cardiomyopathy.

@nl

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J.YJMCC.2009.11.006

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Journal of Molecular and Cellular Cardiology

P1476

Nesprin-1 mutations in human and murine cardiomyopathy.

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P2093

Elizabeth M McNally

http://www.w3.org/2001/XMLSchema#string

Eric J Kessler

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Frederic F S Depreux

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Gene Kim

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James Holaska

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Judy U Earley

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Megan J Puckelwartz

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Megan M Dewitt

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Peter Pytel

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Stephanie K Mewborn

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P2860

Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction

Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues

Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C

Coupling of the nucleus and cytoplasm: role of the LINC complex

NUANCE, a giant protein connecting the nucleus and actin cytoskeleton

Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro

Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF

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600-608

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10.1016/J.YJMCC.2009.11.006

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4

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48

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40037254

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19944109

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2837775

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