about
Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromePodocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease.Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorRAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndromeCorrect developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
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description
Biochemist
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Forscher
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chercheur
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hulumtuese
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investigador
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ricercatore
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研究者
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name
Paulina Carmona-Mora
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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type
label
Paulina Carmona-Mora
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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P Carmona-Mora
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Pauli Carmona
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Pauli Carmona-Mora
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Paulina Carmona
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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Paulina Carmona-Mora
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K31W5K8AAAAJ
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P31
P496
0000-0001-8560-1232