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RAI1 is located within the Smith-Magenis syndrome region on chromosome 17.
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This study identified from multiethnic meta-analyses stronger associations between the RAI1 (zeige DOM3Z Proteine) locus and non-REM (zeige REM1 Proteine) apnea-hypopnea index in men compared with women.
we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22 (zeige PMP22 Proteine)-RAI1 (zeige DOM3Z Proteine) deletions. Systematic clinical studies revealed features consistent with SMS (zeige SMS Proteine), including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities.
RAI1 (zeige DOM3Z Proteine) polymorphisms rs4925102 and rs9907986 are predicted to disrupt the binding of retinoic acid RXR-RAR (zeige RARA Proteine) receptors and the transcription factor DEAF1 (zeige DEAF1 Proteine), respectively, in Smith-Magenis and Potocki-Lupski syndromes patients.
Mutations in RAI1 (zeige DOM3Z Proteine), OTOF, and SLC26A4 (zeige SLC26A4 Proteine) may have roles in nonsyndromic hearing loss in Altaian families in Siberia
South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
RAI1 (zeige DOM3Z Proteine) Gene Duplication is associated with Potocki-Lupski syndrome.
Results show that when MBD5 (zeige MBD5 Proteine) and RAI1 (zeige DOM3Z Proteine) are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development.
Human RAI1 (zeige DOM3Z Proteine) protein was found to be a highly expressed neuronal protein (zeige LRCH1 Proteine) whose distribution matches well with its role in cognitive and motor skills.
RAI1 (zeige DOM3Z Proteine) gene polyglutamine repeat has a different distribution in our population. The 14-repeat allele is associated with perinatal depression and more frequent experience of physical and psychological symptoms during menstrual period.
evolutionary conservation of chromatin binding of SPBP (zeige TCF20 Proteine) and RAI1 (zeige DOM3Z Proteine)
Rai1 preferentially occupies DNA regions near active promoters and promotes the expression of a group of genes involved in circuit assembly and neuronal communication. Behavioral analyses demonstrated that pan-neural loss of Rai1 causes deficits in motor function, learning, and food intake.
Mice haploinsufficient for Rai1 fed a high carbohydrate or a high fat diet gained weight at a significantly faster rate than their wild type littermates.
Viral pseudo-enzymes activate RIG-I (zeige DDX58 Proteine) via deamidation to evade cytokine production.
Rai1 dosage in forebrain neurons is critical during the development and is related to body weight regulation, activity levels and learning and memory.
Rai1 is likely one of the main genes responsible for the circadian clock regulation
The Shc (zeige SHC1 Proteine) family protein adaptor, Rai (zeige SHC3 Proteine), acts as a negative regulator of Th17 and Th1 (zeige HAND1 Proteine) cell development.
RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator
study provides evidence to show that Rai1 haploinsufficiency affects feeding, satiety and fat deposition patterns; RAI1 directly regulates the expression of BDNF (zeige BDNF Proteine)
transcriptional regulator, deficiency is responsible for obesity and craniofacial phenotypes in mice with SMS (zeige SMS Proteine) deletions
Activation of the host response by RIG-I (zeige DDX58 Proteine) early in infection is important for controlling replication of West Nile virus NY
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients.
retinoic acid induced 1
, Smith-Magenis syndrome chromosome region
, retinoic acid-induced protein 1
, hypothetical protein