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3 documents found
1: Title: A Homozygous Potentially Pathogenic Variant in the PAXBP1 Gene in a Large Family with Global Developmental Delay and Myopathic Hypotonia.
Authors: Alharby, Essa, .
Journal: Clinical genetics (Clin Genet), 2017 .
Snippet: PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery.
Affiliation: Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia. Synthetic Protein Engineering Laboratory (SPEL), Ajou University, Suwon, Korea. Paediatric Neurology Department, King Abdullah Medical City-Madinah Maternity and Children Hospital, Almadinah Almunawwarah, Saudi Arabia. Stem cells Unit, Department of Anatomy, King Khalid University Hospital, King Saud University Riyadh, Saudi Arabia. Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre Riyadh, Saudi Arabia. College of Applied Medical Sciences, Taibah University, Almadinah Almunawwarah, Saudi Arabia. Faculty of Medicine, Mansoura University, Egypt. College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia. .
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2: Title: Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks.
Authors: Ling, King-Hwa, .
Journal: BMC genomics, Vol. 15, 2014 .
Snippet: We validated 8 selected DEGs from the cerebral cortex (Brwd1, Donson, Erdr1, Ifnar1, Itgb8, Itsn1, Mrps6 and Tmem50b), 18 DEGs from the cerebellum (Atp5o, Brwd1, Donson, Dopey2, Erdr1, Hmgn1, Ifnar1, Ifnar2, Ifngr2, Itgb8, Itsn1, Mrps6, Paxbp1, Son, Stat1, Tbata, Tmem50b and Wrb) and 11 DEGs from the hippocampus (Atp5o, Brwd1, Cbr1, Donson, Erdr1, Itgb8, Itsn1, Morc3, Son, Tmem50b and Wrb).
Affiliation: Genetics and Regenerative Medicine Research Centre, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 UPM Serdang, Selangor, Malaysia. .
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3: Title: Exceptional expansion and conservation of a CT-repeat complex in the core promoter of PAXBP1 in primates.
Authors: Mohammadparast, Saeid, .
Journal: American journal of primatology (Am J Primatol), Vol. 76 (8): 747-56, 2014 .
Snippet: Different length alleles across the PAXBP1 core promoter CT-STRs significantly altered gene expression in vitro (P<0.001,
Affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. .
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