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Page 1
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF. Rinaldi B, et al. Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335. Genes (Basel). 2022. PMID: 35205380 Free PMC article. Review.
SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by pathogenic variants in RAI1 itself (10%). RAI1 is a dosage-sensitive gene expressed in …
SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid-induced …
DNA-directed termination of RNA polymerase II transcription.
Han Z, Moore GA, Mitter R, Lopez Martinez D, Wan L, Dirac Svejstrup AB, Rueda DS, Svejstrup JQ. Han Z, et al. Mol Cell. 2023 Sep 21;83(18):3253-3267.e7. doi: 10.1016/j.molcel.2023.08.007. Epub 2023 Sep 7. Mol Cell. 2023. PMID: 37683646 Free PMC article.
Single-molecule analysis indicates that termination involves pausing without backtracking. The "torpedo" Rat1-Rai1 exonuclease (XRN2 in humans) greatly stimulates spontaneous termination but is ineffectual on other paused RNAPIIs. ...Genome-wide analysis further indicates …
Single-molecule analysis indicates that termination involves pausing without backtracking. The "torpedo" Rat1-Rai1 exonuclease (XRN2 …
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. Linders CC, et al. Genes (Basel). 2023 Jul 25;14(8):1514. doi: 10.3390/genes14081514. Genes (Basel). 2023. PMID: 37628566 Free PMC article. Review.
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behavioral disturbances. ...Me …
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the …
Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.
Yang T, Pang D, Li C, Shang H. Yang T, et al. Expert Rev Mol Med. 2025 May 29;27:e17. doi: 10.1017/erm.2025.12. Expert Rev Mol Med. 2025. PMID: 40437981 Free PMC article.
BACKGROUND: Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases. ...RESULTS: A total of 99 eligible studies on RAI1 were included. We presented detailed characterisations of SM …
BACKGROUND: Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene implicated in a range of rare neuro …
A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.
Yu R, Liu L, Chen C, Lin ZJ, Xu JM, Fan LL. Yu R, et al. Gene. 2023 Jan 30;851:147028. doi: 10.1016/j.gene.2022.147028. Epub 2022 Nov 2. Gene. 2023. PMID: 36334618
The discoveries of more RAI1 mutations in patients with different phenotypes will help to elucidate the pathogenesis of the RAI1 gene. ...Further, western blot analysis suggested that the novel mutation may decrease the protein levels of RAI1 in the patient. …
The discoveries of more RAI1 mutations in patients with different phenotypes will help to elucidate the pathogenesis of the RAI1 …
Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS).
Brennan C, Baiduc RR. Brennan C, et al. J Commun Disord. 2024 Sep-Oct;111:106455. doi: 10.1016/j.jcomdis.2024.106455. Epub 2024 Aug 11. J Commun Disord. 2024. PMID: 39213791
The current study examined patient registry data and compared two groups of individuals with SMS to determine if genetic differences influence the communication phenotype and to determine the importance of the RAI1 gene in hearing, speech, and language abilities in childre …
The current study examined patient registry data and compared two groups of individuals with SMS to determine if genetic differences influen …
Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.
Dominguez G, Wu Y, Zhou J. Dominguez G, et al. Genes (Basel). 2024 Dec 23;15(12):1653. doi: 10.3390/genes15121653. Genes (Basel). 2024. PMID: 39766920 Free PMC article. Review.
Recently, the TCF20/PHF14 chromatin complex was identified in the mammalian brain, expanding the list of chromatin regulatory remodelers implicated in NDDs. This complex-which includes MeCP2, RAI1, TCF20, PHF14, and HMG20A-plays a vital role in epigenetic and transcription …
Recently, the TCF20/PHF14 chromatin complex was identified in the mammalian brain, expanding the list of chromatin regulatory remodelers imp …
Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.
Covarelli J, Vinciarelli E, Mirarchi A, Prontera P, Arcuri C. Covarelli J, et al. Int J Mol Sci. 2025 Jul 11;26(14):6667. doi: 10.3390/ijms26146667. Int J Mol Sci. 2025. PMID: 40724914 Free PMC article. Review.
Haploinsufficiency disorders are genetic diseases caused by reduced gene expression, leading to developmental, metabolic, and tumorigenic abnormalities. The dosage-sensitive Retinoic Acid Induced 1 (RAI1) gene, located within the 17p11.2 region, …
Haploinsufficiency disorders are genetic diseases caused by reduced gene expression, leading to developmental, metabolic, and tumorigenic ab …
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. Chen P, et al. Oncogene. 2021 Sep;40(37):5600-5612. doi: 10.1038/s41388-021-01966-4. Epub 2021 Jul 26. Oncogene. 2021. PMID: 34312488
It demethylated pri-miR-194-2 and inhibited miR-194-2 biogenesis through an m(6)A/DGCR8-dependent manner. RAI1, previously considered as a circadian clock transcriptional regulator, was the main target of miR-194-2. It enhanced transcription of Hippo pathway upstream genes …
It demethylated pri-miR-194-2 and inhibited miR-194-2 biogenesis through an m(6)A/DGCR8-dependent manner. RAI1, previously considered …
Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G).
Yuan X, Chen L, Saffen D. Yuan X, et al. Genes (Basel). 2024 Apr 6;15(4):460. doi: 10.3390/genes15040460. Genes (Basel). 2024. PMID: 38674394 Free PMC article.
Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene that causes autistic phenotypes when deleted or duplicated. Observations from clinical cases and animal models also suggest that changes of RAI1 expression levels contribute to aut …
Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene that causes autistic phenotypes when deleted or …
41 results