Sort   by:  
 Page size 
UnknownHost microbiota constantly control maturation and function of microglia in the CNS.
Not available
S-EPMC5528863 | biostudies-literature
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 
ProteomicsMicrovesicle Proteomic profiling of Uterine Liquid Biopsy for Ovarian Cancer Early Detection
High-grade ovarian cancer (HGOC) is the leading cause of mortality from gynecological malignancies, due to diagnosis at a metastatic stage. Current screening options fail to improve mortality due to the absence of early-stage-specific biomarkers. We postulated that a liquid biopsy, such as utero-tub...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2019-09-19 | MSV000084345 | MassIVE
ProteomicsSynechocystis.sp. 6803 - Whole organism, SC (Wegener,mcp,2010)
abundance based on Spectral counting, Interaction consistency score: 6.1, Coverage: 38
ORGANISM(S): 1148 
2010-00-00 | 1305834575 | PAXDB
Proteomics- Identification of Gαi2-interacting proteins via affinity pull-down and quantitative mass-spectrometry analysis.
In studying patients with activating GNAI2 mutations, we observed T cell hyperresponsiveness that was independent of cAMP suppression. Therefore, we hypothesized that Gαi2 utilizes alternative signal transduction pathways which might be delineated by identifying its interacting proteins in T cells. ...
ORGANISM(S): Homo sapiens (Human) Escherichia coli 
2024-09-20 | PXD048980 | Pride
Gpcrs G-protein coupled receptors Gnai2 - gαi2 G-protein 
UnknownLoss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989 | biostudies-literature
UnknownGenotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Not available
S-EPMC8140440 | biostudies-literature
UnknownExome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Not available
S-EPMC7871900 | biostudies-literature
UnknownPhenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Not available
S-EPMC8048530 | biostudies-literature
UnknownDe Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Not available
S-EPMC7273536 | biostudies-literature
Sort   by:  
 Page size