Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Gene Ontology annotation of human sequence-specific DNA binding transcription factors (DbTFs) based on the TFClass database
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Identification of the immunodominant HY H2-D(k) epitope and evaluation of the role of direct and indirect antigen presentation in HY responses.
Protein interactome reveals converging molecular pathways among autism disorders.
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
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Wild-type ARX represses endogenous LMO1 and SHOX2.
"wild-type ARX repressed endogenous expression of known ARX
targets, LMO1 and SHOX2"
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DNA-binding results were tested using chromatin immunoprecipitation.
"Electrophoretic mobility
shift assay results were validated using chromatin immunoprecipitation"
Impact of cytosine methylation on DNA binding specificities of human transcription factors.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Unbiased transcription factor CRISPR screen identifies ZNF800 as master repressor of enteroendocrine differentiation.
ARX manual source readings and donor provenance
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
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Mutant mice show abnormal GABAergic interneuron migration and differentiation.
"These mice also showed aberrant
migration and differentiation of interneurons containing gamma-aminobutyric acid
(GABAergic interneurons) in the ganglionic eminence and neocortex"
Arx is required for normal enteroendocrine cell development in mice and humans.
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Mouse conditional Arx loss changes several endocrine populations.
"In mice, removal of Arx from the developing endoderm
results in a decrease of enteroendocrine cell types including gastrin-,
glucagon/GLP-1-, CCK-, secretin-producing cell populations and an increase of
somatostatin-expressing cells."
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Human ARX knockdown reduces selected endocrine marker transcripts.
"ARX knockdown did cause a 60–80% reduction in CCK, Secretin, and Preproglucagon mRNA levels"
The Role of ARX in Human Pancreatic Endocrine Specification.
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XLAG pancreatic tissue lacks glucagon and pancreatic-polypeptide-positive cells.
"XLAG pancreatic tissue lacked glucagon and PP-positive cells, but contained insulin, somatostatin, and ghrelin-positive cells"
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Timed ARX re-expression produces endpoint-specific rescue.
"Delivery of Ad ARX on day 13 of culture, but not day 19, was associated with significantly greater release of C-peptide but not glucagon into the culture media"