| Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS). | Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS).
Brennan C, Baiduc RR. | 10/30/2024 |
| N[6]-methyladenosine demethylase ALKBH5 suppresses malignancy of esophageal cancer by regulating microRNA biogenesis and RAI1 expression. | N(6)-methyladenosine demethylase ALKBH5 suppresses malignancy of esophageal cancer by regulating microRNA biogenesis and RAI1 expression.
Chen P, Li S, Zhang K, Zhao R, Cui J, Zhou W, Liu Y, Zhang L, Cheng Y. | 07/28/2024 |
| Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G). | Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G).
Yuan X, Chen L, Saffen D., Free PMC Article | 05/21/2024 |
| Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8. | Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G., | 02/8/2024 |
| Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant. | Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC, van Eeghen AM, Zinkstok JR, van den Boogaard MJ, Boot E., Free PMC Article | 08/30/2023 |
| Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome. | Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.
Boot E, Linders CC, Tromp SH, van den Boogaard MJ, van Eeghen AM., Free PMC Article | 01/22/2022 |
| Sleep disturbances and phase-advanced circadian rhythm in bodytemperature may be related to a complex biology that stems from theinterstitial deletion or mutation ofRAI1within chromosome 17p11.2. | Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
Smith ACM, Morse RS, Introne W, Duncan WC Jr., Free PMC Article | 02/8/2020 |
| This study identified from multiethnic meta-analyses stronger associations between the RAI1 locus and non-REM apnea-hypopnea index in men compared with women. | Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Chen H, Cade BE, Gleason KJ, Bjonnes AC, Stilp AM, Sofer T, Conomos MP, Ancoli-Israel S, Arens R, Azarbarzin A, Bell GI, Below JE, Chun S, Evans DS, Ewert R, Frazier-Wood AC, Gharib SA, Haba-Rubio J, Hagen EW, Heinzer R, Hillman DR, Johnson WC, Kutalik Z, Lane JM, Larkin EK, Lee SK, Liang J, Loredo JS, Mukherjee S, Palmer LJ, Papanicolaou GJ, Penzel T, Peppard PE, Post WS, Ramos AR, Rice K, Rotter JI, Sands SA, Shah NA, Shin C, Stone KL, Stubbe B, Sul JH, Tafti M, Taylor KD, Teumer A, Thornton TA, Tranah GJ, Wang C, Wang H, Warby SC, Wellman DA, Zee PC, Hanis CL, Laurie CC, Gottlieb DJ, Patel SR, Zhu X, Sunyaev SR, Saxena R, Lin X, Redline S., Free PMC Article | 07/7/2018 |
| This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC, NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM., Free PMC Article | 06/24/2017 |
| we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 deletions. Systematic clinical studies revealed features consistent with SMS, including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities. | Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR., Free PMC Article | 05/20/2017 |
| RAI1 polymorphisms rs4925102 and rs9907986 are predicted to disrupt the binding of retinoic acid RXR-RAR receptors and the transcription factor DEAF1, respectively, in Smith-Magenis and Potocki-Lupski syndromes patients. | Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.
Chen L, Tao Y, Song F, Yuan X, Wang J, Saffen D., Free PMC Article | 12/17/2016 |
| Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia | Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
Сhurbanov AY, Karafet TM, Morozov IV, Mikhalskaia VY, Zytsar MV, Bondar AA, Posukh OL., Free PMC Article | 09/10/2016 |
| 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 | ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H Jr, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jardim LB, Rede Neurogenetica. | 08/20/2016 |
| RAI1 Gene Duplication is associated with Potocki-Lupski syndrome. | Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR., Free PMC Article | 02/27/2016 |
| Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. | Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
Mullegama SV, Alaimo JT, Chen L, Elsea SH., Free PMC Article | 01/16/2016 |
| Human RAI1 protein was found to be a highly expressed neuronal protein whose distribution matches well with its role in cognitive and motor skills. | Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders.
Fragoso YD, Stoney PN, Shearer KD, Sementilli A, Nanescu SE, Sementilli P, McCaffery P., Free PMC Article | 11/21/2015 |
| RAI1 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. | Association of premenstrual/menstrual symptoms with perinatal depression and a polymorphic repeat in the polyglutamine tract of the retinoic acid induced 1 gene.
Tan EC, Tan HS, Chua TE, Lee T, Ng J, Ch'ng YC, Choo CH, Chen HY. | 11/29/2014 |
| evolutionary conservation of chromatin binding of SPBP and RAI1 | A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules.
Darvekar S, Rekdal C, Johansen T, Sjøttem E., Free PMC Article | 08/9/2014 |
| The Shc family protein adaptor, Rai, acts as a negative regulator of Th17 and Th1 cell development. | The Shc family protein adaptor, Rai, acts as a negative regulator of Th17 and Th1 cell development.
Savino MT, Ulivieri C, Emmi G, Prisco D, De Falco G, Ortensi B, Beccastrini E, Emmi L, Pelicci G, D'Elios MM, Baldari CT. | 05/25/2013 |
| A reduction of total RAI1 transcription factor activity is at the heart of the Smith-Magenis Syndrome clinical presentation. | RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
Carmona-Mora P, Canales CP, Cao L, Perez IC, Srivastava AK, Young JI, Walz K., Free PMC Article | 03/2/2013 |
| RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator | Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH., Free PMC Article | 08/25/2012 |
| Mutation screening of the coding region of the RAI1 gene in patients with with features suggestive of Smith-Magenis syndrome identified two patients with novel heterozygous nonsynonymous alterations of unknown significance. | Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK., Free PMC Article | 05/12/2012 |
| Data suggest that RAI1 expression emerged as a genetic target for development of therapeutic interventions for SMS. | Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M., Free PMC Article | 02/18/2012 |
| Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations | Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L., Free PMC Article | 11/26/2011 |
| Functional studies have shown that RAI1 gene dosage is crucial for normal regulation of circadian rhythm, lipid metabolism and neurotransmitter function. | Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Elsea SH, Williams SR. | 07/30/2011 |