Mostrando 21 - 40 Resultados de 99 Para Buscar '"Rai 1"', tiempo de consulta: 0.27s Limitar resultados
  1. 21
    “…The dosage sensitive gene responsible for most phenotypes in SMS has been identified: the Retinoic Acid Induced 1 (RAI1). Studies on mouse models and humans suggest that RAI1 is likely the dosage sensitive gene responsible for clinical features in PTLS. …”
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    Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior
  2. 22
    “…In contrast, Rai1 reactivation 7–8 wk after birth was not beneficial. …”
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    Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
  3. 23
    “…The reported familial case, the second showing RAI1 overexpression in the absence of RAI1 duplication, may help to understand the regulation of RAI1 dosage sensitivity although its phenotypic effect remains to be determined.…”
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    A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
  4. 24
    “…Haploinsufficiency in retinoic acid induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), a severe neurodevelopmental disorder characterized by neurocognitive deficits and obesity. …”
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    rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
  5. 25
    “…Copy number loss of RAI1 results in Smith-Magenis syndrome while copy number gain results in Potocki-Lupski syndrome. …”
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    Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis
  6. 26
    “…In this study, we found that RAI1 mRNA expression in Chinese prefrontal and temporal cortex correlate with genotypes of common single nucleotide polymorphisms (SNPs) located in the RAI1 5′-upstream region. …”
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    Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain
  7. 27
    “…The mechanisms linking neural Rai1 to body weight regulation remain unclear. Here we find that hypothalamic brain-derived neurotrophic factor (BDNF) and its downstream signalling are disrupted in SMS (Rai1(+/-)) mice. …”
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    Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
  8. 28
    “…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. …”
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    Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant
  9. 29
    “…Expression levels varied in patients with familial RAI1 variants and in non-17p11.2 deleted patients without identified RAI1 defects. …”
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    Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion
  10. 30
    “…OsRPT2a seemed to be responsible for RAI1 turnover in a 26S proteasome-dependent manner. …”
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    The OsSPK1–OsRac1–RAI1 defense signaling pathway is shared by two distantly related NLR proteins in rice blast resistance
  11. 31
    “…Deletions and mutations involving the Retinoic Acid Induced 1 (RAI1) gene at 17p11.2 cause Smith-Magenis syndrome (SMS). …”
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    A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
  12. 32
    “…Here, we identify the histone methyltransferase KMT2A as a physical binding partner of an RNA polymerase-associated PHF5A-PHF14-HMG20A-RAI1 protein subcomplex and an epigenetic regulator of PCSC properties and functions. …”
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    KMT2A associates with PHF5A-PHF14-HMG20A-RAI1 subcomplex in pancreatic cancer stem cells and epigenetically regulates their characteristics
  13. 33
    “…Presumed association of RAI1 gene variant c.5254G>A with isolated HL needs to be proved by further experimental studies.…”
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    Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)
  14. 34
    “…While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic acid induced-1 (RAI1) gene, some patients carry small intragenic deletions or point mutations in RAI1. …”
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    Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
  15. 35
    “…RAI1 was also found in neurons of the occipital cortex. …”
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    Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders
  16. 36
    “…We recently reported that the yeast Rai1 protein has pyrophosphohydrolase activity towards mRNAs lacking a 5’-end cap4. …”
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    Identification of a quality control mechanism for mRNA 5’-end capping
  17. 37
    por Park, Jieun, Kang, Myungjin, Kim, Minkyu
    Publicado 2015
    “…Intriguingly, yeast Rat1/Rai1 does not terminate Escherichia coli RNAP, implying that a specific interaction between Rat1/Rai1 and RNAPII may be required for termination. …”
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    Unraveling the mechanistic features of RNA polymerase II termination by the 5′-3′ exoribonuclease Rat1
  18. 38
    “…RESULTS: All four groups showed high interindividual variation. RAI-1-positive cells were identified as neurons and astrocytes. …”
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    Increased expression of retinoic acid-induced gene 1 in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression
  19. 39
    “…Recent studies showed that Rai1 is a crucial component of the mRNA 5′-end capping quality control mechanism in yeast. …”
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    Dxo1 is a novel eukaryotic enzyme with both decapping and 5′-3′ exoribonuclease activity
  20. 40
    “…Our data suggest a model in which Npl3 associates with the Rai1 bound pre-mRNAs. In case the transcript was properly capped and is thus CBC (cap binding complex) bound, Rai1 dissociates from Npl3 allowing the export factor Mex67 to interact with this guard protein and support nuclear export. …”
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    A guard protein mediated quality control mechanism monitors 5’-capping of pre-mRNAs
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