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TranscriptomicsGene expression profile of peripheral blood mononuclear cells in the X-linked alpha thalassemia mental retardation (ATRX) syndrome
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regul...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-22028 | biostudies-arrayexpress
TranscriptomicsX-linked adrenoleukosdystrophy disease X-ALD
X-linked adrenoleukodystrophy (X-ALD) is a metabolic genetic disorder of the central nervous system characterized by axonopathy in spinal cords, progressive demyelination in the brain and adrenal insufficiency. Here we provide transcriptomic data from white matter of human X-ALD patients compared to...
ORGANISM(S): Homo sapiens 
2012-03-21 | E-MEXP-3288 | biostudies-arrayexpress
MetabolomicsIntegrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene. The pathogenic variants lead to impaired conversion of monolysocardiolipin (MLCL) into mature phospholipid cardiolipin (CL). The accumulation of MLCL and mature CL deficiency is a diag...

2025-09-08 | MTBLS12953 | MetaboLights
TranscriptomicsTranscription profiling of human super frontal gyrus (post mortem brain) from Rett syndrome patients and age sex matched controls reveals FXYD1, an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice
Rett syndrome (RTT, OMIM 312750) is a severe X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene. MECP2 encodes methyl-CpG-binding protein 2 (MeCP2), which represses gene transcription by binding to 5-methylcytosine residues in symmetrically positioned CpG...
ORGANISM(S): Homo sapiens 
2007-11-02 | E-GEOD-6955 | biostudies-arrayexpress
TranscriptomicsDe novo homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family
Kallmann syndrome is a genetically heterogeneous condition and a treatable form of male infertility. Defects in KAL1 gene have been implicated in Kallmann syndrome, which can be associated with X-linked ichthyosis in contiguous gene syndromes. In order to uncover the genetic cause of two brothers wi...
ORGANISM(S): Homo sapiens 
2015-12-05 | E-GEOD-58793 | biostudies-arrayexpress
GenomicsATRX-mediated chromatin association of histone variant macroH2A1 regulates alpha globin gene expression
The histone variant macroH2A generally associates with transcriptionally inert chromatin, however the factors that regulate its chromatin incorporation remain elusive. Here, we identify the SWI/SNF helicase, ATRX, as a novel macroH2A interacting protein. Unlike its role in assisting H3.3 chromatin d...
ORGANISM(S): Homo sapiens 
2012-03-08 | E-GEOD-35339 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of cultured fibroblastic cell lines from Rett syndrome patients
Transcription profiling of cultured fibroblastic cell lines from Rett syndrome patients. Rett syndrome (symbolized RTT) is caused by mutations in the gene MECP2 located on the X chromosome. We compared cell lines mutated clones versus non mutated.
ORGANISM(S): Homo sapiens 
2009-12-19 | E-MEXP-1956 | biostudies-arrayexpress
ProteomicsDe novo mutations of MSL3 cause a novel X-linked syndrome due to impaired histone H4 lysine 16 acetylation
Epigenetic regulation by histone acetylation plays a key role in cellular homeostasis and its misregulation is associated with human disease. Histone 4 Lysine 16 acetylation (H4K16ac) serves a unique role amongst the many histone modifications as it directly affects chromatin structure1. The Male Sp...
ORGANISM(S): Homo sapiens (Human) 
2018-09-18 | PXD009317 | Pride
X-linked syndrome Acetylation Histone h4 Msl3 Lysine 16 
ProteomicsEffect of glomerular disease on the podocyte cell cycle
Proteomic data from three populations of sorted murine podocytes using the FUCCI (fluorescence ubiquitination cell cycle indicator) Cell Cycle Sensor: Wild-Type podocytes at G0 (WT_G0), Alport Syndrome podocytes at G0 (AS_G0), and Alport Syndrome podocytes at G1 (AS_G1). Cell populations were sorted...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2021-01-15 | MSV000086705 | MassIVE
TranscriptomicsTranscription profiling of wildtype or Hyp (X-linked hypophosphatemic) mouse kidney after feeding control or low phosphate diet to study changes in gene expression in response to low-phosphate diet.
This is a study of the change in gene expression in mouse kidney after feeding control (1.0% P) or low phosphate diet (0.03% P) for 3 or 5 days to normal or Hyp (X-linked hypophosphatemic) mice at 5 weeks of age. The mice were C57BL/6J. Normal wild-type mice, hemizygous Hyp (Hyp/Y) male mice, or h...
ORGANISM(S): Mus musculus 
2007-12-13 | E-GEOD-868 | biostudies-arrayexpress
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