Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q133H
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EMD

NM_000117.3:p.Q133H

Associated Papers

The role of inner nuclear membrane protein emerin in myogenesis.

Marano N et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Emerin self-assembly and nucleoskeletal coupling regulate nuclear envelope mechanics against stress.

Fernandez A et al.

Journal of Cell Science, 2022

Emerin interacts with histone methyltransferases to regulate repressive chromatin at the nuclear periphery.

Marano N et al.

Frontiers in Cell and Developmental Biology, 2022

The Role of Emerin in Cancer Progression and Metastasis.

Liddane AG et al.

International Journal of Molecular Sciences, 2021

EDMD-Causing Emerin Mutant Myogenic Progenitors Exhibit Impaired Differentiation Using Similar Mechanisms.

Iyer A et al.

Cells, 2020

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress.

Essawy N et al.

Cells, 2019

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Del-Toro N et al.

Nature Communications, 2019

30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3

Emerin self-assembly mechanism: role of the LEM domain.

Samson C et al.

The Febs Journal, 2017

Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.

Herrada I et al.

Acs Chemical Biology, 2015

Role of structural flexibility in the evolution of emerin.

Yuan J et al.

Journal of Theoretical Biology, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.

Ho CY et al.

Nature, 2013

The nuclear envelope protein emerin binds directly to histone deacetylase 3 (HDAC3) and activates HDAC3 activity.

Demmerle J et al.

The Journal of Biological Chemistry, 2012

Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation.

Wheeler MA et al.

Cellular and Molecular Life Sciences : Cmls, 2010

Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases.

Tifft KE et al.

Journal of Cell Science, 2009

Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy.

Wheeler MA et al.

Experimental Cell Research, 2007

Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.

Holaska JM et al.

Human Molecular Genetics, 2006

Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.

Holaska JM et al.

The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology, 2006

Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.

Holaska JM et al.

Plos Biology, 2004

Multiple and surprising new functions for emerin, a nuclear membrane protein.

Bengtsson L et al.

Current Opinion in Cell Biology, 2004

Emerin interacts in vitro with the splicing-associated factor, YT521-B.

Wilkinson FL et al.

European Journal of Biochemistry, 2003

Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro.

Holaska JM et al.

The Journal of Biological Chemistry, 2003

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

Bonne G et al.

Neuromuscular Disorders : Nmd, 2002

How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?

Holt I et al.

Biochemical and Biophysical Research Communications, 2001

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

Yates JR et al.

Neuromuscular Disorders : Nmd, 1999

Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy.

Morris GE et al.

Human Molecular Genetics, 1999

The nuclear envelope LEM-domain protein emerin.

Berk JM et al.

Nucleus (austin, Tex.), 0

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