List of works - Judit Balog

A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.

scientific article

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

scientific article published on 08 December 2021

Characterisation of transcription factor profiles in polycystic kidney disease (PKD): identification and validation of STAT3 and RUNX1 in the injury/repair response and PKD progression

scientific article published on 26 November 2019

Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes

scientific article published on 17 April 2013

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

scientific article published in 2021

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

scientific article

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on February 2016

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

scientific article

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

scientific article

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

scientific article

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

scientific article published on 21 November 2017

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

scientific article published on 3 August 2011

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

scientific article published on 24 June 2014

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

scientific article published on 28 May 2020

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on 17 November 2015

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

scientific article

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

scientific article

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

scientific article published on 21 March 2018

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

scientific article published on May 2016

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

scientific article

NeuroD Factors Discriminate Mineralocorticoid From Glucocorticoid Receptor DNA Binding in the Male Rat Brain

scientific article published on 24 January 2017

Premature termination codons in the DMD gene cause reduced local mRNA synthesis

scientific article published on 02 July 2020

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

scientific article published on 6 June 2017

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

scientific article published on 01 April 2019

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

scientific article

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

scientific article (publication date: October 2013)

[Carrier detection in families affected by Duchenne/Becker muscular dystrophy]

scientific article published on 01 December 2007

List of works by Judit Balog

A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

Characterisation of transcription factor profiles in polycystic kidney disease (PKD): identification and validation of STAT3 and RUNX1 in the injury/repair response and PKD progression

Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

NeuroD Factors Discriminate Mineralocorticoid From Glucocorticoid Receptor DNA Binding in the Male Rat Brain

Premature termination codons in the DMD gene cause reduced local mRNA synthesis

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

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

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

[Carrier detection in families affected by Duchenne/Becker muscular dystrophy]