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Aileen M. Barnes

National Institutes of Health

54

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Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia

2020 Matrix Biology
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Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

2019 Bone
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Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

2016 PLOS Genetics
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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

2016 Neuromuscular Disorders
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First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

2016 Bone Abstracts
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Bone with uncleavable type I collagen C-propeptide has abnormal development of multiple bone cell populations and increased bone mineral density with age

2016 Bone Abstracts
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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

2016 Nature Communications
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Bone mineral properties in growing Col1a2+/G610C mice, an animal model of osteogenesis imperfecta

2016 Bone
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Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

2016 The Journal of Clinical Endocrinology and Metabolism
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Type V OI Primary Osteoblasts Display Increased Mineralization Despite Decreased COL1A1 Expression

2015 The Journal of Clinical Endocrinology and Metabolism
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