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ProteomicsDual molecular mechanisms and functional compensation by RBMXL1 retrocopy underlie RBMX-associated neurodevelopmental syndrome
Genetic variants in RBMX may cause X-linked neurodevelopmental syndromes, but their pathogenicity and mechanisms remain unclear. Here, we provide definitive evidence from nine unrelated families that RBMX variants lead to neurodevelopmental disorders characterised by intellectual disability, brain m...
ORGANISM(S): Homo sapiens (Human) 
2026-07-28 | PXD066823 | Pride
Neurodevelopmental disorder Evolution Splicing Rbmx Rbmxl1 retrocopy 
GenomicsRBMX preferentially associates with repetitive DNAs along with RPA
RBMX preferentially associates with repetitive DNAs along with RPA
PRJNA556911 | ENA
GenomicsRole of RBMX in the post-transcriptional control of homeotic genes
Role of RBMX in the post-transcriptional control of homeotic genes
PRJNA485413 | ENA
GenomicsDual molecular mechanisms and functional compensation by RBMXL1 retrocopy underlie RBMX-associated neurodevelopmental syndrome
Dual molecular mechanisms and functional compensation by RBMXL1 retrocopy underlie RBMX-associated neurodevelopmental syndrome
PRJNA1306625 | ENA
GenomicsRBMX preferentially associates with repetitive DNAs along with RPA
To characterize the binding sites of RBMX and RPA on chromatin, 293T cells were treated with CPT and binding profiles were obtained by ChIP-seq assay. RBMX ChIP-seq profile was highly correlated with RPA ChIP-seq profile, both showing strong peaks at centromeres. To characterize the occupancy sites ...
ORGANISM(S): Homo sapiens 
2019-07-27 | GSE134980 | GEO
UnknownRBMX involves in telomere stability maintenance by regulating TERRA expression.
Not available
S-EPMC10529574 | biostudies-literature
GenomicsTranscriptional control of HP1a by the RNA binding proteins RBMX/L1 maintain chromatin state in myeloid leukemia
Transcriptional control of HP1a by the RNA binding proteins RBMX/L1 maintain chromatin state in myeloid leukemia
PRJNA643547 | ENA
UnknownAberrant RBMX expression is relevant for cancer prognosis and immunotherapy response.
Not available
S-EPMC10817375 | biostudies-literature
TranscriptomicsRole of RBMX in the post-transcriptional control of homeotic genes
Wild-type and RBMX-knockdown HEK293 cells where profiled at the transcriptome and translatome levels for the expression of 50 homeotic genes. Targeted RNA-seq libraries were built and sequenced on an Illumina MiSeq machine to allow for accurate gene expression quantification of this specific set of ...
ORGANISM(S): Homo sapiens 
2020-03-04 | GSE118383 | GEO
TranscriptomicsDual molecular mechanisms and functional compensation by RBMXL1 retrocopy underlie RBMX-associated neurodevelopmental syndrome
Genetic variants in RBMX may cause X-linked neurodevelopmental syndromes, but their pathogenicity and mechanisms remain unclear. Here, we provide definitive evidence from nine unrelated families that RBMX variants lead to neurodevelopmental disorders characterised by intellectual disability, brain m...
ORGANISM(S): Mus musculus 
2026-08-15 | GSE305608 | GEO
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