Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.-论文-万方医学网

第一作者： Marjo K,Hytönen

第一单位： Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.;Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.;The Folkhälsan Institute of Genetics, Helsinki, Finland.

作者： Marjo K,Hytönen ^[1] ; Meharji,Arumilli ^[1] ; Anu K,Lappalainen ^[2] ; Marta,Owczarek-Lipska ^[3] ; Vidhya,Jagannathan ^[3] ; Sruthi,Hundi ^[1] ; Elina,Salmela ^[1] ; Patrick,Venta ^[4] ; Eva,Sarkiala ^[2] ; Tarja,Jokinen ^[5] ; Daniela,Gorgas ^[6] ; Juha,Kere ^[7] ; Pekka,Nieminen ^[8] ; Cord,Drögemüller ^[3] ; Hannes,Lohi ^[1]

作者单位： Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.;Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.;The Folkhälsan Institute of Genetics, Helsinki, Finland. ^[1] Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland. ^[2] Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland. ^[3] Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan, United States of America. ^[4] Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.;Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland. ^[5] Division of Clinical Radiology, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Bern, Switzerland. ^[6] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.;The Folkhälsan Institute of Genetics, Helsinki, Finland.;Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden. ^[7] Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland. ^[8]

医学主题词畸形, 多发性(Abnormalities, Multiple);动物(Animals);反向转运物(Antiporters);蜘蛛样指(趾)(Arachnodactyly);睑裂狭小(Blepharophimosis);骨疾病(Bone Diseases);酪蛋白激酶Ⅰ(Casein Kinase I);腭裂(Cleft Palate);挛缩(Contracture);颅下颌骨病症(Craniomandibular Disorders);疾病模型, 动物(Disease Models, Animal);狗(Dogs);突眼(Exophthalmos);细胞外基质蛋白质类(Extracellular Matrix Proteins);疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);人类(Humans);骨肥厚, 先天性骨皮质(Hyperostosis, Cortical, Congenital);小头畸形(Microcephaly);骨硬化(Osteosclerosis);清道夫受体, F类(Scavenger Receptors, Class F)

DOI 10.1371/journal.pgen.1006037

PMID 27187611

发布时间 2018-11-13

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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

PLoS genetics

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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

PLoS genetics

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PLoS genetics

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