Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.
Bulmer L et al.
European Journal of Human Genetics : Ejhg, 2025
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
Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report.
Zambrano AK et al.
Frontiers in Neurology, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
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
An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress.
Essawy N et al.
Cells, 2019
Emerin self-assembly mechanism: role of the LEM domain.
Samson C et al.
The Febs Journal, 2017
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane.
Pfaff J et al.
Journal of Cell Science, 2016
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
The molecular basis of emerin-emerin and emerin-BAF interactions.
Berk JM et al.
Journal of Cell Science, 2014
Emerin in health and disease.
Koch AJ et al.
Seminars in Cell & Developmental Biology, 2014
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
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
Brown CA et al.
Journal of Human Genetics, 2011
Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes.
Dedeic Z et al.
Journal of Cell Science, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The nuclear envelopathies and human diseases.
Chi YH et al.
Journal of Biomedical 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
Proteins that associate with lamins: many faces, many functions.
Schirmer EC 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
Identification of tyrosine-phosphorylation sites in the nuclear membrane protein emerin.
Schlosser A et al.
The Febs Journal, 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
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
Haraguchi T et al.
European Journal of Biochemistry, 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
The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype.
Fairley EA et al.
Journal of Cell Science, 2002
Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.
Lee KK et al.
Journal of Cell Science, 2001
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.
Fairley EA et al.
Journal of Cell Science, 1999
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
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
Ellis JA et al.
Human Genetics, 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