Related references
Note: Only part of the references are listed.Insights into epigenetic patterns in mammalian early embryos
Ruimin Xu et al.
PROTEIN & CELL (2021)
Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy
Darina Sikrova et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2021)
SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres
Aleksandra Vancevska et al.
EMBO JOURNAL (2020)
EZHIP/CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma
Jens-Martin Huebner et al.
NEURO-ONCOLOGY (2019)
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Camille Dion et al.
NUCLEIC ACIDS RESEARCH (2019)
SMCHD1 terminates the first embryonic genome activation event in mouse two-cell embryos and contributes to a transcriptionally repressive state
Meghan L. Ruebel et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2019)
Inhibiting ubiquitination causes an accumulation of SUMOylated newly synthesized nuclear proteins at PML bodies
Zhe Sha et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Richard J. L. F. Lemmers et al.
JOURNAL OF MEDICAL GENETICS (2019)
PFA ependymoma-associated protein EZHIP inhibits PRC2 activity through a H3 K27M-like mechanism
Siddhant U. Jain et al.
NATURE COMMUNICATIONS (2019)
CATACOMB: An endogenous inducible gene that antagonizes H3K27 methylation activity of Polycomb repressive complex 2 via an H3K27M-like mechanism
Andrea Piunti et al.
SCIENCE ADVANCES (2019)
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Remko Goossens et al.
JOURNAL OF MEDICAL GENETICS (2019)
EZHIP constrains Polycomb Repressive Complex 2 activity in germ cells
Roberta Ragazzini et al.
NATURE COMMUNICATIONS (2019)
The PRIDE database and related tools and resources in 2019: improving support for quantification data
Yasset Perez-Riverol et al.
NUCLEIC ACIDS RESEARCH (2019)
The non-canonical SMC protein SmcHD1 antagonises TAD formation and compartmentalisation on the inactive X chromosome
Michal R. Gdula et al.
NATURE COMMUNICATIONS (2019)
Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas
Kristian W. Pajtler et al.
ACTA NEUROPATHOLOGICA (2018)
SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X
Chen-Yu Wang et al.
CELL (2018)
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Judit Balog et al.
JOURNAL OF MEDICAL GENETICS (2018)
Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy
Charis L. Himeda et al.
MOLECULAR THERAPY (2018)
NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins
Amy E. Campbell et al.
ELIFE (2018)
Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters
Natasha Jansz et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2018)
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
Rene Luijk et al.
NATURE COMMUNICATIONS (2018)
Many faces of SMCHD1
Andrew O. M. Wilkie
NATURE GENETICS (2017)
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Christopher T. Gordon et al.
NATURE GENETICS (2017)
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw et al.
NATURE GENETICS (2017)
DUX-family transcription factors regulate zygotic genome activation in placental mammals
Alberto De Iaco et al.
NATURE GENETICS (2017)
Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons
Peter G. Hendrickson et al.
NATURE GENETICS (2017)
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Amanda G. Mason et al.
SKELETAL MUSCLE (2017)
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
Marlinde L. van den Boogaard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
The landscape of accessible chromatin in mammalian preimplantation embryos
Jingyi Wu et al.
NATURE (2016)
The MaxQuant computational platform for mass spectrometry-based shotgun proteomics
Stefka Tyanova et al.
NATURE PROTOCOLS (2016)
Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism
Goran Lakisic et al.
PLOS GENETICS (2016)
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
Judit Balog et al.
EPIGENETICS (2015)
Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways
Amanda M. Rickard et al.
HUMAN MOLECULAR GENETICS (2015)
R loops regulate promoter-proximal chromatin architecture and cellular differentiation
Poshen B. Chen et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
Identification and characterization of essential genes in the human genome
Tim Wang et al.
SCIENCE (2015)
Tissue-based map of the human proteome
Mathias Uhlen et al.
SCIENCE (2015)
R loops regulate promoter-proximal chromatin architecture and cellular differentiation
Poshen B. Chen et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
Overexpression of the Heterochromatinization Factor BAHD1 in HEK293 Cells Differentially Reshapes the DNA Methylome on Autosomes and X Chromosome
Emanuele Libertin et al.
FRONTIERS IN GENETICS (2015)
Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases
Maxime Ferreboeuf et al.
HUMAN MOLECULAR GENETICS (2014)
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Zizhen Yao et al.
HUMAN MOLECULAR GENETICS (2014)
Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma
Barbara Dewaele et al.
INTERNATIONAL JOURNAL OF CANCER (2014)
The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells
Cole Trapnell et al.
NATURE BIOTECHNOLOGY (2014)
The maintenance of chromosome structure: positioning and functioning of SMC complexes
Kristian Jeppsson et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2014)
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
Alexandra Tassin et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2013)
Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway
Ryu-Suke Nozawa et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J. L. F. Lemmers et al.
NATURE GENETICS (2012)
Immunodetection of Human Double Homeobox 4
Linda N. Geng et al.
HYBRIDOMA (2011)
Structural and functional insights into a dodecameric molecular machine - The RuvBL1/RuvBL2 complex
Sabine Gorynia et al.
JOURNAL OF STRUCTURAL BIOLOGY (2011)
Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution
Richard J. L. F. Lemmers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Richard J. L. F. Lemmers et al.
SCIENCE (2010)
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
Lauren Snider et al.
PLOS GENETICS (2010)
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
Lauren Snider et al.
HUMAN MOLECULAR GENETICS (2009)
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1 gamma/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
Weihua Zeng et al.
PLOS GENETICS (2009)
Identifying specific protein interaction partners using quantitative mass spectrometry and bead proteomes
Laura Trinkle-Mulcahy et al.
JOURNAL OF CELL BIOLOGY (2008)
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
Marnie E. Blewitt et al.
NATURE GENETICS (2008)
MDC1 accelerates nonhomologous end-joining of dysfunctional telomeres
Nadya Dimitrova et al.
GENES & DEVELOPMENT (2006)
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
RJLF Lemmers et al.
NATURE GENETICS (2002)
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
D Gabellini et al.
CELL (2002)
Stable isotope labeling by amino acids in cell culture, SILAC, as a simple and accurate approach to expression proteomics
SE Ong et al.
MOLECULAR & CELLULAR PROTEOMICS (2002)
Share Paper
