Mostrando 1 - 20 Resultados de 99 Para Buscar '"Rai 1"', tiempo de consulta: 3.14s Limitar resultados
  1. 1
    “…Methods: To investigate the relationship between Rai1 and social impairment, we evaluated the Rai1(+/−) mice with a battery of tests to address social behavior in mice. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice
  2. 2
    “…SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself. About 10% of all the SMS patients, in fact, carry an RAI1 mutation responsible for the phenotype. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
  3. 3
    “…Recent studies showed that Rai1 and its homologs are a crucial component of the mRNA 5′-end capping quality control mechanism. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Structural and biochemical studies of the distinct activity profiles of Rai1 enzymes
  4. 4
    “…Remarkable agreement among nascent transcriptomes, dynamic chromatin occupancy of RAI1, and electrophysiological properties of Rai1-deficient neurons demonstrates the essential roles of RAI1 in suppressing synaptic upscaling in the naive network, while promoting upscaling triggered by activity silencing. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    RAI1 Regulates Activity-Dependent Nascent Transcription and Synaptic Scaling
  5. 5
    “…In this study, we show that breeding C57Bl/6J Rai1(+/−) mice with FVB/NJ to create F1 Rai1(+/−) offspring in a mixed genetic background ameliorates both fecundity and Rai1 allele transmission phenotypes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1
  6. 6
    “…Our results implicate Rai1 as a novel and central player in processing non-visual light information, from input to behavioral output. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Rai1 frees mice from the repression of active wake behaviors by light
  7. 7
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
  8. 8
    “…Similar results were found in lymphoblastoid cells derived from a SMS patient carrying RAI1 c.3103insC, where both mutant and wild type products of RAI1 were detected. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
  9. 9
    “…However, an adjacent conserved AT-hook motif as identified in SPBP is not present in RAI1, and deletion of the novel nucleosome binding region of RAI1 did not significantly affect its nuclear localisation.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Phylogenetic Study of SPBP and RAI1: Evolutionary Conservation of Chromatin Binding Modules
  10. 10
    Publicado 2014
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Correction: Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1
  11. 11
    “…Here we report the crystal structure at 2.2 Å resolution of S. pombe Rat1 in complex with Rai1, as well as the structures of Rai1 and its murine homolog DOM3Z alone at 2.0 Å resolution. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Structure and function of the 5’→3’ exoribonuclease Rat1 and its activating partner Rai1
  12. 12
    “…In eukaryotes, the DXO/Rai1 family of enzymes removes numerous 5′-end RNA modifications, thereby regulating RNA turnover. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A novel 5′-hydroxyl dinucleotide hydrolase activity for the DXO/Rai1 family of enzymes
  13. 13
    “…Our work uncovers the mechanism of neuronal hyperexcitability in SMS by identifying Rai1 as a negative regulator of dGC intrinsic and synaptic excitability.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
  14. 14
    “…FAD and CoA are accommodated in the DXO/Rai1 active site by adopting folded conformations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    DXO/Rai1 enzymes remove 5′-end FAD and dephospho-CoA caps on RNAs
  15. 15
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Correction to ‘A novel 5′-hydroxyl dinucleotide hydrolase activity for the DXO/Rai1 family of enzymes’
  16. 16
    Publicado 2022
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Correction for Chang et al., Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith
  17. 17
    “…In this study, we report a role for the transcription termination complex (Rtt103-Rai1-Rat1) in regulating the abundance of the sub-telomeric transcripts in a transcription-dependent manner. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Transcription termination complex, Rtt103-Rai1-Rat1, regulates sub-telomeric transcripts in Saccharomyces cerevisiae
  18. 18
    por Wu, Xiaobin, Zhang, Li, Chen, Sisi, Li, Yanxi
    Publicado 2023
    “…The diagnosis of SMS was confirmed by a heterozygous mutation in exon 3 of the RAI1 gene on chromosome chr-1717696650 at locus c.388C>T (P.Q130X). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene
  19. 19
    “…RESULTS: We generated the full-length cDNA of the wild type protein and five mutated forms: RAI1-HA 2687delC, RAI1-HA 3103delC, RAI1 R960X, RAI1-HA Q1562R, and RAI1-HA S1808N. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome
  20. 20
    “…Further support for this hypothesis was obtained from transcriptome profiling that showed that the expression levels of both Zeb2 and Map2k2 are perturbed in Rai1 (–/–) mice. As an orthogonal approach to potentially contributory disease gene variants, we used chromatin conformation capture to reveal chromatin contacts between RAI1 and the loci flanking ZEB2 and GLDC, as well as between RAI1 and human orthologs of the genes that show perturbed expression in our Rai1 (–/–) mouse model. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
Herramientas de búsqueda: RSS