| Comparative analyses of the Smith-Magenis syndrome protein RAI1 in mice and common marmoset monkeys. | Comparative analyses of the Smith-Magenis syndrome protein RAI1 in mice and common marmoset monkeys.
Chang YT, Lee YJ, Haque M, Chang HC, Javed S, Lin YC, Cho Y, Abramovitz J, Chin G, Khamis A, Raja R, Murai KK, Huang WH. | 03/1/2024 |
| Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling. | Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling.
Javed S, Chang YT, Cho Y, Lee YJ, Chang HC, Haque M, Lin YC, Huang WH., Free PMC Article | 11/29/2023 |
| Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith-Magenis syndrome. | Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith-Magenis syndrome.
Chang YT, Kowalczyk M, Fogerson PM, Lee YJ, Haque M, Adams EL, Wang DC, DeNardo LA, Tessier-Lavigne M, Huguenard JR, Luo L, Huang WH., Free PMC Article | 10/29/2022 |
| Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith-Magenis syndrome. | Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith-Magenis syndrome.
Javed S, Lee YJ, Xu J, Huang WH. | 04/16/2022 |
| A novel 5'-hydroxyl dinucleotide hydrolase activity for the DXO/Rai1 family of enzymes has been reported. | A novel 5'-hydroxyl dinucleotide hydrolase activity for the DXO/Rai1 family of enzymes.
Doamekpor SK, Gozdek A, Kwasnik A, Kufel J, Tong L., Free PMC Article | 03/21/2020 |
| Haploinsufficiency of Retinoic Acid Induced 1 causes Smith-Magenis syndrome. | Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome.
Huang WH, Wang DC, Allen WE, Klope M, Hu H, Shamloo M, Luo L., Free PMC Article | 12/22/2018 |
| 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. | Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.
Huang WH, Guenthner CJ, Xu J, Nguyen T, Schwarz LA, Wilkinson AW, Gozani O, Chang HY, Shamloo M, Luo L., Free PMC Article | 07/22/2017 |
| 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. | Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.
Alaimo JT, Hahn NC, Mullegama SV, Elsea SH., Free PMC Article | 12/19/2015 |
| Viral pseudo-enzymes activate RIG-I via deamidation to evade cytokine production. | Viral pseudo-enzymes activate RIG-I via deamidation to evade cytokine production.
He S, Zhao J, Song S, He X, Minassian A, Zhou Y, Zhang J, Brulois K, Wang Y, Cabo J, Zandi E, Liang C, Jung JU, Zhang X, Feng P., Free PMC Article | 06/20/2015 |
| Rai1 dosage in forebrain neurons is critical during the development and is related to body weight regulation, activity levels and learning and memory. | Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
Cao L, Molina J, Abad C, Carmona-Mora P, Cárdenas Oyarzo A, Young JI, Walz K. | 11/29/2014 |
| Rai1 is likely one of the main genes responsible for the circadian clock regulation | Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.
Lacaria M, Gu W, Lupski JR., Free PMC Article | 02/15/2014 |
| 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 |
| 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 |
| study provides evidence to show that Rai1 haploinsufficiency affects feeding, satiety and fat deposition patterns; RAI1 directly regulates the expression of BDNF | Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH., Free PMC Article | 03/5/2011 |
| Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice is reported. | Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
Girirajan S, Elsea SH. | 01/21/2010 |
| Rai1 played an important role in the serotonin pathway in a dosage-dependent manner. | Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
Girirajan S, Elsea SH. | 01/21/2010 |
| Rai1 overexpression is associated with mental retardation, growth and developmental delays, and defective neurological and behavioral functions | How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH. | 01/21/2010 |
| Rai1 is a critical gene in the central nervous system functioning in a dosage sensitive manner and that the neurobehavioral phenotype is modified by regulator(s) in the approximately 590 kb genomic interval. | Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR. | 01/21/2010 |
| Normal disomic Rai1 gene dosage was sufficient to rescue the complex physical and behavioral phenotypes observed in Dp(11)17/+ mice | Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
Walz K, Paylor R, Yan J, Bi W, Lupski JR., Free PMC Article | 01/21/2010 |
| transcriptional regulator, deficiency is responsible for obesity and craniofacial phenotypes in mice with SMS deletions | Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR. | 01/21/2010 |
| Activation of the host response by RIG-I early in infection is important for controlling replication of West Nile virus NY | West Nile virus evades activation of interferon regulatory factor 3 through RIG-I-dependent and -independent pathways without antagonizing host defense signaling.
Fredericksen BL, Gale M Jr., Free PMC Article | 01/21/2010 |
| Genomic interval surrounding Rai1 are the major modifying genetic element(s) affecting the craniofacial penetrance | Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
Yan J, Bi W, Lupski JR., Free PMC Article | 01/21/2010 |