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GenomicsDiagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may pl...
ORGANISM(S): Homo sapiens 
2013-11-06 | E-GEUV-5 | biostudies-arrayexpress
TranscriptomicsConditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration
ATP6AP2 is an essential accessory component of the vacuolar H+ ATPase (V-ATPase) and has been associated with intellectual disabilities (ID) and Parkinsonism. ATP6AP2 has been implicated in several signaling pathways, but little is known about its role in the nervous system. To decipher its function...
ORGANISM(S): Mus musculus 
2015-09-22 | E-GEOD-67541 | biostudies-arrayexpress
UnknownCentral Blood Pressure and Augmentation Index in Older Adults With Intellectual Disabilities.
Not available
S-EPMC12576378 | biostudies-literature
TranscriptomicsSNP arrays to confirm X-linkage in a family with idiopathic intellectual disability
L061 family with idiopathic non-syndromic intellectual disability remained unsolved after targeted screening of ID-related genes, array-CGH and exome sequencing. In order to perform custom tandem repeat screening on the X chromosome by long read single molecule sequencing, X-linkage needed to be con...
ORGANISM(S): Homo sapiens 
2017-12-01 | E-MTAB-5903 | biostudies-arrayexpress
UnknownTen-Year Outcomes of Anticholinergic Use Among Older Adults With Intellectual Disability: Findings From the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA).
Not available
S-EPMC12576370 | biostudies-literature
ProteomicsThe OGT TPR Interactome defined by BioID
BioID performed in HeLa cells for the TPR domain of The O-GlcNAc Transferase and eGFP (negative control). Used to determine TPR interactors and the TPR interactome in HeLa cells. Three biological replicates were performed, with each replicate having an experimental (TPR-BirA*) and negative (eGFP-Bir...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-06-24 | MSV000085626 | MassIVE
UnknownPrevalence and Incidence of Cardiovascular Disease in Adults With Intellectual Disabilities: A Systematic Review.
Not available
S-EPMC12580485 | biostudies-literature
GenomicsEpigenetic Modulation to perturb the SYNGAP1 Intellectual Disability (ID) that ameliorates synaptic and behavioural deficits
Epigenetic Modulation to perturb the SYNGAP1 Intellectual Disability (ID) that ameliorates synaptic and behavioural deficits
PRJNA1060334 | ENA
GenomicsDiagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may pl...
EGAS00001000287 | EGA
ProteomicsDe novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. To this end, we investigated the effects of mutated CK2β by performing phosphor proteome profiling of patient derived LCLs along with th...
ORGANISM(S): Homo sapiens (Human) 
2022-05-04 | PXD029983 | Pride
Csnk2b Ck2β and ck2 
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