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GenomicsExome sequencing in Möbius syndrome
Data Access Committee EGAC00001000322
EGAC00001000322 | EGA
GenomicsChIP-Seq sequencing of H3K9me2 in third instar Drosophila larvae
This study describes the epigenetic profiling of the H3K9me2 in wt Drosophila larvae, as well as in Drosophila larvae for which the euchromatic catalytic enzyme depositing H3K9me2 (EHMT) is knocked out. ChIP-Seq profiling of H3K9me2 in wt and EHMT KO third instar Drosophila larvae
ORGANISM(S): Drosophila melanogaster 
2011-01-05 | E-GEOD-22447 | biostudies-arrayexpress
GenomicsGenome-wide profiling of p63 binding sites identifies genes and regulatory elements for p63-related disorders
We identified p63 target genes and binding sites responsible for ectodermal defects by genome-wide profiling of p63 binding using ChIP-seq and expression analysis in human primary keratinocytes from patients with p63 mutations. As proof of principle, we identified a novel de novo microdeletion causi...
ORGANISM(S): Homo sapiens 
2010-08-15 | E-GEOD-17611 | biostudies-arrayexpress
TranscriptomicsHistone methylation by the Kleefstra Syndrome protein EHMT1 mediates homeostatic synaptic scaling.
Homeostatic plasticity, a form of synaptic plasticity, maintains the fine balance between overall excitation and inhibition in developing and mature neuronal networks. Although the synaptic mechanisms of homeostatic plasticity are well characterized, the associated transcriptional program remains po...
ORGANISM(S): Rattus norvegicus 
2016-06-30 | E-GEOD-68960 | biostudies-arrayexpress
GenomicMutant p63 affects epidermal cell identity through rewiring the enhancer landscape

Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Mutations in the p63 DNA-binding domain are associated with Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (EEC) syndrome. Underlying molecular mechanism of these mutations however remain ...

phs001737 | dbGaP
Genomicsena-DATASET-RADBOUDUMC-01-06-2015-11:22:06:411-305 - samples
Exome sequencing in 3 Möbius patients
EGAD00001001385 | EGA
GenomicsExome Sequencing in Moebius Syndrome
Möbius syndrome (MBS; MIM 157900) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The etiology of this syndrome has been an enigma since the initial description in 1880 by von Graaefe and in 1888 by Möbius, and it has been d...
EGAS00001001250 | EGA
Genomicsuk10k_rare_neuromuscular_rel_2012_11_27-sc-20121218 - samples
UK10K_RARE_NEUROMUSCULAR REL-2012-11-27
EGAD00001000298 | EGA
Genomicsuk10k_rare_neuromuscular_rel_2012_01_13-sc-20120611 - samples
UK10K_RARE_NEUROMUSCULAR REL-2012-01-13
EGAD00001000180 | EGA
Genomicsuk10k_rare_nmwg-rel-2013-03-06-sc-20140327 - samples
UK10K_RARE_NMWG REL-2013-03-06
EGAD00001000804 | EGA
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