Keyword Analysis & Research: rai1 duplication syndrome


Keyword Analysis

Keyword CPC PCC Volume Score Length of keyword
rai1 duplication syndrome1.17121895425
rai110.86999994
duplication0.550.69356211
syndrome1.720.8668868

Keyword Research: People who searched rai1 duplication syndrome also searched

Keyword CPC PCC Volume Score
rai1 duplication syndrome0.70.8116234

Search Results related to rai1 duplication syndrome on Search Engine

  • Rai1 duplication causes physical and behavioral phenotypes ...

    princeton.edu

    https://web.math.princeton.edu/~sswang/CB-pediatric/autism/walz_lupski_Rai1-duplication-mouse.pdf

    Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2) Katherina Walz,1,2 Richard Paylor,1,3 Jiong Yan, 1 Weimin Bi, and James R. Lupski1,4,5 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. 2Centro de Estudios Científicos, Valdivia, Chile.

    DA: 82 PA: 37 MOZ Rank: 36

  • RAI1 gene: MedlinePlus Genetics

    medlineplus.gov

    https://medlineplus.gov/genetics/gene/rai1/

    All of the duplications known to cause Potocki-Lupski syndrome contain the RAI1 gene. Studies suggest that the duplication increases the amount of RAI1 protein, which disrupts the expression of genes that influence circadian rhythms. These changes may account for the sleep disturbances that occur with Potocki-Lupski syndrome.

    DA: 64 PA: 87 MOZ Rank: 86

  • JCI - Rai1 duplication causes physical and behavioral ...

    jci.org

    https://www.jci.org/articles/view/28953

    Remarkably, Dp17/Rai1 – mice, carrying 2 copies of the Rai1 gene but 3 copies of the other 18 genes in the chromosome-engineered duplication interval, showed body weight similar to that of the wild-type animals, and their weight was significantly different from that of the Dp17/+ and Rai1 +/– mice.

    DA: 7 PA: 5 MOZ Rank: 8

  • Rai1 duplication causes physical and behavioral phenotypes ...

    europepmc.org

    http://europepmc.org/articles/PMC1590269

    Remarkably, Dp17/Rai1 – mice, carrying 2 copies of the Rai1 gene but 3 copies of the other 18 genes in the chromosome-engineered duplication interval, showed body weight similar to that of the wild-type animals, and their weight was significantly different from that of the Dp17/+ and Rai1 +/– mice.

    DA: 71 PA: 64 MOZ Rank: 10

  • Gene: RAI1

    sfari.org

    https://gene.sfari.org/database/human-gene/RAI1

    RAI1 was included within a 17p11.2 duplication identified in an individual with autism and intellectual disability and showed altered gene expression (Nakamine et al., 2008); it was identified as the single gene in this interval that overlaps with the region affected in Potocki-Lupski syndrome, making it those most likely candidate.

    DA: 51 PA: 53 MOZ Rank: 97

  • (PDF) Diagnosing Smith–Magenis Syndrome and Duplication ...

    researchgate.net

    https://www.researchgate.net/publication/5480009_Diagnosing_Smith-Magenis_Syndrome_and_Duplication_17p112_Syndrome_by_RAI1_Gene_Copy_Number_Variation_Using_Quantitative_Real-Time_PCR

    Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-Time PCR April 2008 Genetic Testing 12(1):67-73

    DA: 64 PA: 4 MOZ Rank: 55

  • (PDF) Diagnosing Smith–Magenis Syndrome and Duplication ...

    academia.edu

    https://www.academia.edu/15687711/Diagnosing_Smith_Magenis_Syndrome_and_Duplication_17p11_2_Syndrome_by_RAI1_Gene_Copy_Number_Variation_Using_Quantitative_Real_Time_PCR

    An RAI1 copy number of 1 is expected for copy number was determined by exporting peak heights into normal diploid samples, 0.5 for samples with an RAI1 dele- an Excel spreadsheet, which had been designed to assess the tion (SMS), and 1.5 for samples that have a duplication of ratio of each test peak relative to all other peaks for the given RAI1 (dup17p11.2 syndrome). individual.

    DA: 34 PA: 71 MOZ Rank: 82

  • Smith–Magenis syndrome: haploinsufficiency of RAI1 results ...

    cambridge.org

    https://www.cambridge.org/core/journals/expert-reviews-in-molecular-medicine/article/smithmagenis-syndrome-haploinsufficiency-of-rai1-results-in-altered-gene-regulation-in-neurological-and-metabolic-pathways/14D7B68FE41B091489CCD70E0424A89D

    Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity. The American Journal of Human Genetics, Vol. 90, Issue. 6, p. 941.

    DA: 22 PA: 46 MOZ Rank: 91

  • OMIM Entry - * 607642 - RETINOIC ACID-INDUCED GENE 1; RAI1

    omim.org

    https://www.omim.org/entry/607642

    Walz et al. (2006) concluded that duplication of Rai1 is responsible for decreased body weight in Dp (11)17 mice and that Rai1 is a dosage-sensitive gene involved in body weight control and complex behavioral responses. Girirajan et al. (2008) generated transgenic mice with 4 and 6 copies of the Rai1 gene.

    DA: 96 PA: 89 MOZ Rank: 19