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
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
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh P et al.
Neuromuscular Disorders : Nmd, 2017
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
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
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
Haque F et al.
The Journal of Biological Chemistry, 2010
The nuclear envelopathies and human diseases.
Chi YH et al.
Journal of Biomedical Science, 2009
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
Proteins that associate with lamins: many faces, many functions.
Schirmer EC et al.
Experimental Cell Research, 2007
Identification of tyrosine-phosphorylation sites in the nuclear membrane protein emerin.
Schlosser A et al.
The Febs Journal, 2006
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
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