Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
出版年份 2017 全文链接
标题
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 27, Issue 4, Pages 716-731
出版商
Oxford University Press (OUP)
发表日期
2017-12-21
DOI
10.1093/hmg/ddx437
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- DUX-family transcription factors regulate zygotic genome activation in placental mammals
- (2017) Alberto De Iaco et al. NATURE GENETICS
- Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons
- (2017) Peter G Hendrickson et al. NATURE GENETICS
- Conservation and innovation in the DUX4-family gene network
- (2017) Jennifer L Whiddon et al. NATURE GENETICS
- Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model
- (2017) Darko Bosnakovski et al. Nature Communications
- Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
- (2016) Marlinde L. van den Boogaard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis
- (2016) Paul Knopp et al. JOURNAL OF CELL SCIENCE
- DUX4 Is Derepressed in Late-Differentiating Keratinocytes in Conjunction with Loss of H3K9me3 Epigenetic Repression
- (2016) Orla M. Gannon et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
- (2016) Patrizia Calandra et al. JOURNAL OF MEDICAL GENETICS
- Setdb1-mediated H3K9 methylation is enriched on the inactive X and plays a role in its epigenetic silencing
- (2016) Andrew Keniry et al. Epigenetics & Chromatin
- High Frequency Hearing Loss and Hyperactivity in DUX4 Transgenic Mice
- (2016) Abhijit Dandapat et al. PLoS One
- Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells
- (2016) Sunny Das et al. PLoS One
- Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
- (2015) Judit Balog et al. Epigenetics
- Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
- (2014) Mirjam Larsen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dominant Lethal Pathologies in Male Mice Engineered to Contain an X-Linked DUX4 Transgene
- (2014) Abhijit Dandapat et al. Cell Reports
- The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
- (2013) Sabrina Sacconi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes
- (2013) Anne-Valerie Gendrel et al. MOLECULAR AND CELLULAR BIOLOGY
- Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation
- (2013) Arne W Mould et al. Epigenetics & Chromatin
- Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD
- (2013) Yvonne D. Krom et al. PLoS Genetics
- Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
- (2012) Judit Balog et al. Epigenetics
- Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
- (2012) Takako Iida Jones et al. HUMAN MOLECULAR GENETICS
- DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
- (2012) Alexandra Tassin et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
- (2012) Richard J L F Lemmers et al. NATURE GENETICS
- Immunodetection of Human Double Homeobox 4
- (2011) Linda N. Geng et al. HYBRIDOMA
- DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo
- (2010) Lindsay M. Wallace et al. ANNALS OF NEUROLOGY
- Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene:Duxbl
- (2010) Shey-Lin Wu et al. DEVELOPMENTAL DYNAMICS
- Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
- (2010) Lauren Snider et al. PLoS Genetics
- Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
- (2009) Weihua Zeng et al. PLoS Genetics
- SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
- (2008) Marnie E Blewitt et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search