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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 (Montrer DOM3Z Anticorps) locus and non-REM (Montrer REM1 Anticorps) 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 (Montrer PMP22 Anticorps)-RAI1 (Montrer DOM3Z Anticorps) deletions. Systematic clinical studies revealed features consistent with SMS (Montrer SMS Anticorps), including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities.
RAI1 (Montrer DOM3Z Anticorps) polymorphisms rs4925102 and rs9907986 are predicted to disrupt the binding of retinoic acid RXR-RAR (Montrer RARA Anticorps) receptors and the transcription factor DEAF1 (Montrer DEAF1 Anticorps), respectively, in Smith-Magenis and Potocki-Lupski syndromes patients.
Mutations in RAI1 (Montrer DOM3Z Anticorps), OTOF (Montrer OTOF Anticorps), and SLC26A4 (Montrer SLC26A4 Anticorps) 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 (Montrer DOM3Z Anticorps), CACNA1A (Montrer CACNA1A Anticorps), ATXN3 (Montrer ATXN3 Anticorps), and ATXN7 (Montrer ATXN7 Anticorps) genes
RAI1 (Montrer DOM3Z Anticorps) Gene Duplication is associated with Potocki-Lupski syndrome.
Results show that when MBD5 (Montrer MBD5 Anticorps) and RAI1 (Montrer DOM3Z Anticorps) are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development.
Human RAI1 (Montrer DOM3Z Anticorps) protein was found to be a highly expressed neuronal protein (Montrer LRCH1 Anticorps) whose distribution matches well with its role in cognitive and motor skills.
RAI1 (Montrer DOM3Z Anticorps) 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 (Montrer TCF20 Anticorps) and RAI1 (Montrer DOM3Z Anticorps)
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 (Montrer SUPT6H Anticorps)-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 (Montrer DDX58 Anticorps) 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 (Montrer SHC1 Anticorps) family protein adaptor, Rai (Montrer SHC3 Anticorps), acts as a negative regulator of Th17 and Th1 (Montrer HAND1 Anticorps) 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 (Montrer BDNF Anticorps)
transcriptional regulator, deficiency is responsible for obesity and craniofacial phenotypes in mice with SMS (Montrer SMS Anticorps) deletions
Activation of the host response by RIG-I (Montrer DDX58 Anticorps) 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