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Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect
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Mutations in SERPINF1 cause osteogenesis imperfecta type VI
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Pigment epithelium-derived factor contributes to insulin resistance in obesity
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Elevated serum levels of pigment epithelium-derived factor in the metabolic syndrome
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Circulating pigment epithelium-derived factor levels are associated with insulin resistance and decrease after weight loss
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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
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Becker J, Semler O, Gilissen C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011; 88: 362-371.
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Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI
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Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. J Clin Endocrinol Metab. 2012; 97: E1550-E1556.
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A co-occurrence of osteogenesis imperfecta type VI and cystinosis
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Tucker T, Nelson T, Sirrs S, et al. A co-occurrence of osteogenesis imperfecta type VI and cystinosis. Am J Med Genet A. 2012; 158A: 1422-1426.
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Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type i collagen
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Venturi G, Gandini A, Monti E, et al. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. J Bone Miner Res. 2012; 27: 723-728.
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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
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Mutations in WNT1 cause different forms of bone fragility
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Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013; 92: 565-574.
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
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Centers for disease control and prevention 2000 growth charts for the United States: Improvements to the 1977 National Center for Health Statistics version
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Peripheral quantitative computed tomography of the distal radius in young subjects-new reference data and interpretation of results
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Rauch F, Schoenau E. Peripheral quantitative computed tomography of the distal radius in young subjects-new reference data and interpretation of results. J Musculoskelet Neuronal Interact. 2005; 5: 119-126.
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Peripheral quantitative computed tomography of the proximal radius in young subjects-new reference data and interpretation of results
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Pigment epithelium-derived factor as a new marker of metabolic syndrome in Caucasian population
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Stejskal D, Karpisek M, Svestak M, Hejduk P, Sporova L, Kotolova H. Pigment epithelium-derived factor as a new marker of metabolic syndrome in Caucasian population. J Clin Lab Anal. 2010; 24: 17-19.
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Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content
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Gattu AK, Swenson ES, Iwakiri Y, et al. Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content. FASEB J. 2013; 27: 4384-4394.
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Augmented expression and secretion of adipose-derived pigment epithelium-derived factor does not alter local angiogenesis or contribute to the development of systemic metabolic derangements
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Lakeland TV, Borg ML, Matzaris M, Abdelkader A, Evans RG, Watt MJ. Augmented expression and secretion of adipose-derived pigment epithelium-derived factor does not alter local angiogenesis or contribute to the development of systemic metabolic derangements. Am J Physiol Endocrinol Metab. 2014; 306: E1367-E1377.
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Lakeland, T.V.1
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