Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

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Published in Hum Mutat on March 01, 2007

Authors

Joan C Marini1, Antonella Forlino, Wayne A Cabral, Aileen M Barnes, James D San Antonio, Sarah Milgrom, James C Hyland, Jarmo Körkkö, Darwin J Prockop, Anne De Paepe, Paul Coucke, Sofie Symoens, Francis H Glorieux, Peter J Roughley, Alan M Lund, Kaija Kuurila-Svahn, Heini Hartikka, Daniel H Cohn, Deborah Krakow, Monica Mottes, Ulrike Schwarze, Diana Chen, Kathleen Yang, Christine Kuslich, James Troendle, Raymond Dalgleish, Peter H Byers

Author Affiliations

1: Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA. oidoc@helix.nih.gov

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Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta. Am J Cardiol (2007) 2.05

Angiogenic effects of human multipotent stromal cell conditioned medium activate the PI3K-Akt pathway in hypoxic endothelial cells to inhibit apoptosis, increase survival, and stimulate angiogenesis. Stem Cells (2007) 2.05

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (2009) 2.02

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken) (2012) 2.01

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01

Stem cells and cell therapies in lung biology and lung diseases. Proc Am Thorac Soc (2008) 1.98

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98

Mast cells infiltrate the esophageal smooth muscle in patients with eosinophilic esophagitis, express TGF-β1, and increase esophageal smooth muscle contraction. J Allergy Clin Immunol (2010) 1.97

Netrin-1 and semaphorin 3A promote or inhibit cortical axon branching, respectively, by reorganization of the cytoskeleton. J Neurosci (2004) 1.97

Action at a distance: systemically administered adult stem/progenitor cells (MSCs) reduce inflammatory damage to the cornea without engraftment and primarily by secretion of TNF-α stimulated gene/protein 6. Stem Cells (2011) 1.96

Cartilage in normal and osteoarthritis conditions. Best Pract Res Clin Rheumatol (2008) 1.95

Adipogenic differentiation of human adult stem cells from bone marrow stroma (MSCs). J Bone Miner Res (2003) 1.94

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med (2010) 1.94