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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2024
Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish modelTamara Jarayseh, Sophie Debaenst, Hanna De Saffel, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 20, 2016
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck SyndromeCharlotte Gistelinck, Paul Eckhard Witten, Ann Huysseune, et al.International Journal of Molecular Sciences|August 23, 2017
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human FibroblastsAlessandra Gamberucci, Paola Marcolongo, Csilla E Németh, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 18, 2023
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone DevelopmentBrecht Guillemyn, Hanna De Saffel, Jan Willem Bek, et al.FEBS Letters|May 7, 2016
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transportCsilla E Németh, Paola Marcolongo, Alessandra Gamberucci, et al.American Journal of Human Genetics|May 14, 2013
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorderFransiska Malfait, Ariana Kariminejad, Tim Van Damme, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeBrian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.Nature Genetics|March 22, 2006
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromePaul J Coucke, Andy Willaert, Marja W Wessels, et al.American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.Proceedings of the National Academy of Sciences of the United States of America|August 8, 2018
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathiesCharlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, et al.Pageof 6