De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.-论文-万方医学网

第一作者： Karin,Writzl

第一单位： Clinical Institute of Medical Genetics, University Medical Centre, 1000 Ljubljana, Slovenia. Electronic address: karinwritzl@gmail.com.

作者： Karin,Writzl ^[1] ; Ales,Maver ^[2] ; Lidija,Kovačič ^[3] ; Paula,Martinez-Valero ^[4] ; Laura,Contreras ^[4] ; Jorgina,Satrustegui ^[4] ; Marco,Castori ^[5] ; Laurence,Faivre ^[6] ; Pablo,Lapunzina ^[7] ; André B P,van Kuilenburg ^[8] ; Slobodanka,Radović ^[9] ; Christel,Thauvin-Robinet ^[6] ; Borut,Peterlin ^[2] ; Araceli,Del Arco ^[10] ; Raoul C,Hennekam ^[11]

作者单位： Clinical Institute of Medical Genetics, University Medical Centre, 1000 Ljubljana, Slovenia. Electronic address: karinwritzl@gmail.com. ^[1] Clinical Institute of Medical Genetics, University Medical Centre, 1000 Ljubljana, Slovenia. ^[2] Novartis Ireland Ltd., Novartis, Vista Building, Elm Business Park, D04A9N6 Dublin 4, Ireland. ^[3] Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid and Consejo Superior de Investigaciones Científicas, 28049 Madrid, Spain; Instituto de Investigación Sanitaria Fundación Jiménez Diaz, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain. ^[4] Division of Medical Genetics, Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico, 71013 San Giovanni Rotondo, Foggia, Italy. ^[5] Centre de Référence Maladies Rares "cAnomalies du Développement et Syndromes Malformatifsc," Centre de Génétique, FHU-TRANSLAD, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon Bourgogne, 21079 Dijon, France; UMR 1231, Génétique des Anomalies du Développement, INSERM, Université de Bourgogne Franche-Comté, 21079 Dijon, France. ^[6] Instituto de Genética Médica y Molecular-IdiPAZ, Hospital Universitario La Paz, Centro de Investigación Biomédica en Red de Enfermedades Raras, 261-28046 Madrid, Spain. ^[7] Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands. ^[8] IGA Technology Services Srl., 33100 Udine, Italy. ^[9] Instituto de Investigación Sanitaria Fundación Jiménez Diaz, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain; Facultad de Ciencias Ambientales y Bioquímica, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla la Mancha, 45071-Toledo, Spain. ^[10] Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands. ^[11]

主题词腺嘌呤(Adenine);腺苷三磷酸(Adenosine Triphosphate);衰老(Aging);反向转运物(Antiporters);骨疾病, 发育性(Bone Diseases, Developmental);钙结合蛋白质类(Calcium-Binding Proteins);胞质溶胶(Cytosol);女(雌)性(Female);死胎(Fetal Death);成纤维细胞(Fibroblasts);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);膜电位, 线粒体(Membrane Potential, Mitochondrial);线粒体(Mitochondria);线粒体蛋白质类(Mitochondrial Proteins);分子动力学模拟(Molecular Dynamics Simulation);突变(Mutation);氧(Oxygen);磷酸盐类(Phosphates);综合征(Syndrome)

DOI 10.1016/j.ajhg.2017.09.017

PMID 29100094

发布时间 2024-06-04

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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

American journal of human genetics

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American journal of human genetics

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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

American journal of human genetics

相似文献

American journal of human genetics

相关期刊

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