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Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

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第一作者： Siddharth,Srivastava

第一单位： Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.

作者： Siddharth,Srivastava ^[1] ; Tejasvi,Niranjan ^[1] ; Melanie M,May ^[2] ; Patrick,Tarpey ^[3] ; William,Allen ^[4] ; Anna,Hackett ^[5] ; Pierre-Simon,Jouk ^[6] ; Lucy,Raymond ^[7] ; Slyvain,Briault ^[8] ; Cindy,Skinner ^[2] ; Annick,Toutain ^[9] ; Jozef,Gecz ^[10] ; William,Heath ^[11] ; Roger E,Stevenson ^[2] ; Charles E,Schwartz ^[2] ; Tao,Wang ^[1]

作者单位： Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland. ^[1] Greenwood Genetic Center, Greenwood, South Carolina. ^[2] Welcome Trust Sanger Institute, Cambridge, UK. ^[3] Fullerton Genetics, Asheville, North Carolina. ^[4] Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia. ^[5] Service de Génétique Clinique, Hôpital Couple-Enfant, Grenoble, France. ^[6] Cambridge Institute of Medical Research, Cambridge, UK. ^[7] Centre Hospitalier Régional d'Orléans, Orléans, France. ^[8] Service de Génétique Clinique, Hôpital Bretonneau, Tours, France. ^[9] Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia. ^[10] J.I. Riddle Developmental Center, Morganton, North Carolina. ^[11]

关键词 MED12 Mutation SHH Signaling XLID qRT-PCR

医学主题词成年人(Adult);碱性螺旋-环-螺旋转录因子类(Basic Helix-Loop-Helix Transcription Factors);骨形态发生蛋白质4(Bone Morphogenetic Protein 4);细胞, 培养的(Cells, Cultured);颅面骨畸形(Craniofacial Abnormalities);cAMP反应元素结合蛋白质A(Cyclic AMP Response Element-Binding Protein A);猬蛋白质类(Hedgehog Proteins);人类(Humans);男(雄)性(Male);中介体复合物(Mediator Complex);中年人(Middle Aged);突变, 误义(Mutation, Missense);神经组织蛋白质类(Nerve Tissue Proteins);系谱(Pedigree);信号传导(Signal Transduction)

DOI 10.1002/mgg3.569

PMID 30729724

发布时间 2025-01-03

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Molecular genetics & genomic medicine

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Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

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Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

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