The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.-论文-万方医学网

第一作者： Federica,Sgariglia

第一单位： Division of Orthopedic Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

作者： Federica,Sgariglia ^[1] ; Elena,Pedrini ^[2] ; Jonathan P,Bradfield ^[3] ; Tricia R,Bhatti ^[4] ; Pio,D'Adamo ^[5] ; John P,Dormans ^[1] ; Aruni T,Gunawardena ^[1] ; Hakon,Hakonarson ^[6] ; Jacqueline T,Hecht ^[7] ; Luca,Sangiorgi ^[2] ; Maurizio,Pacifici ^[1] ; Motomi,Enomoto-Iwamoto ^[1] ; Struan F A,Grant ^[8]

作者单位： Division of Orthopedic Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[1] Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy. ^[2] Center for Applied Genomics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[3] Department of Pathology & Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[4] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy. ^[5] Center for Applied Genomics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. ^[6] Department of Pediatrics, Division of Pediatric Research, The University of Texas Medical School at Houston, Houston, TX USA. ^[7] Center for Applied Genomics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: grants@chop.edu. ^[8]

医学主题词青少年(Adolescent);成年人(Adult);老年人(Aged);等位基因(Alleles);软骨(Cartilage);儿童(Child);儿童, 学龄前(Child, Preschool);糖尿病, 2型(Diabetes Mellitus, Type 2);外生骨疣, 多发性遗传性(Exostoses, Multiple Hereditary);女(雌)性(Female);基因型(Genotype);人类(Humans);免疫组织化学(Immunohistochemistry);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);N-乙酰氨基葡糖转移酶类(N-Acetylglucosaminyltransferases);比值比(Odds Ratio);骨软骨瘤(Osteochondroma);多态性, 单核苷酸(Polymorphism, Single Nucleotide);转录因子7样2蛋白(Transcription Factor 7-Like 2 Protein);青年人(Young Adult);β连环素(beta Catenin)

DOI 10.1016/j.bone.2014.11.024

PMID 25498973

发布时间 2025-01-03

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The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.

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The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.

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