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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Human molecular genetics, 2009-07, Vol.18 (13), p.2414-2430

2009

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Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

Brain (London, England : 1878), 2006-04, Vol.129 (4), p.996-1013

2006

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Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

Annals of neurology, 2005-10, Vol.58 (4), p.569-576

2005

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Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice

Nature neuroscience, 2017-05, Vol.20 (5), p.648

HD iPSC Consortium

2017

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Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

Cell stem cell, 2012-08, Vol.11 (2), p.264-278

2012

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Actinin-Associated LIM Protein: Identification of a Domain Interaction between PDZ and Spectrin-like Repeat Motifs

The Journal of cell biology, 1997-10, Vol.139 (2), p.507-515

1997

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Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

PLoS genetics, 2009-07, Vol.5 (7), p.e1000559

2009

Volltextzugriff (PDF)

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Nature genetics, 2003-12, Vol.35 (4), p.315-317

2003

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Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation

Human molecular genetics, 2003-11, Vol.12 (22), p.2895-2907

2003

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Cell, 1994-07, Vol.78 (2), p.335-342

1994

Volltextzugriff (PDF)

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

Human molecular genetics, 2004-09, Vol.13 (17), p.1857-1871

2004

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Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.448-456

2010

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Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress

Neuromuscular disorders : NMD, 2003-05, Vol.13 (4), p.322-333

2003

Volltextzugriff (PDF)

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)

PLoS genetics, 2009-07, Vol.5 (7), p.e1000559-e1000559

2009

Volltextzugriff (PDF)

Oligonucleotide microarray expression analysis of genes whose expression is correlated with tumorigenic and non-tumorigenic phenotype of HeLa×human fibroblast hybrid cells

Cancer letters, 2001-04, Vol.165 (2), p.201-209

2001

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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

PloS one, 2012-08, Vol.7 (8), p.e43099

2012

Volltextzugriff (PDF)

The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus

Human molecular genetics, 1998-11, Vol.7 (12), p.1947-1952

1998

Volltextzugriff (PDF)

Epigenomic Studies of Facioscapulohumeral Muscular Dystrophy (FSHD)

The FASEB journal, 2010-04, Vol.24 (S1), p.713.8-713.8

2010

Volltextzugriff (PDF)

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1I3/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

PLoS genetics, 2009-07, Vol.5 (7), p.e1000559-e1000559

2009

Volltextzugriff (PDF)

The distribution of somatic H1 subtypes is non-random on active vs. inactive chromatin: distribution in human fetal fibroblasts

Chromosome research, 2000-01, Vol.8 (5), p.405-424

2000

Volltextzugriff (PDF)

The Evolutionary Distribution and Structural Organization of the Homeobox-Containing Repeat D4Z4 Indicates a Functional Role for the Ancestral Copy in the FSHD Region

Human molecular genetics, 1996-10, Vol.5 (10), p.1567-1575

1996

Volltextzugriff (PDF)

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease

Chromosome research, 1994-05, Vol.2 (3), p.225-234

1994

Volltextzugriff (PDF)

Oligonucleotide microarray expression analysis of genes whose expression is correlated with tumorigenic and non-tumorigenic phenotype of HeLa x human fibroblast hybrid cells

Cancer letters, 2001-04, Vol.165 (2), p.201-209

2001

Volltextzugriff (PDF)

Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy

Muscle & nerve, 1995, Vol.18 (S13), p.S32-S38

1995

Volltextzugriff (PDF)

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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

Actinin-Associated LIM Protein: Identification of a Domain Interaction between PDZ and Spectrin-like Repeat Motifs

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)

Oligonucleotide microarray expression analysis of genes whose expression is correlated with tumorigenic and non-tumorigenic phenotype of HeLa×human fibroblast hybrid cells

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus

Epigenomic Studies of Facioscapulohumeral Muscular Dystrophy (FSHD)

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1[gamma]/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD): e1000559

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1I3/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

The distribution of somatic H1 subtypes is non-random on active vs. inactive chromatin: distribution in human fetal fibroblasts

The Evolutionary Distribution and Structural Organization of the Homeobox-Containing Repeat D4Z4 Indicates a Functional Role for the Ancestral Copy in the FSHD Region

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease

Oligonucleotide microarray expression analysis of genes whose expression is correlated with tumorigenic and non-tumorigenic phenotype of HeLa x human fibroblast hybrid cells

Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy

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