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The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta Gioia, Roberta; Tonelli, Francesca; Ceppi, Ilaria; Biggiogera, Marco; Leikin, Sergey; Fisher, Shannon; Tenedini, Elena; Yorgan, Timur A.; Schinke, Thorsten; Tian, Kun; Schwartz, Jean-Marc; Forte, Fabiana; Wagener, Raimund; Villani, Simona; Rossi, Antonio; Forlino, Antonella 分享 收藏
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye P4HA1突变导致结缔组织的独特先天性疾病，涉及肌腱，骨骼，肌肉和眼睛 Zou, Yaqun; Donkervoort, Sandra; Salo, Antti M.; Foley, A. Reghan; Barnes, Aileen M.; Hu, Ying; Makareeva, Elena; Leach, Meganne E.; Mohassel, Payam; Dastgir, Jahannaz; Deardorff, Matthew A.; Cohn, Ronald D.; DiNonno, Wendy O.; Malfait, Fransiska; Lek, Monkol; Leikin, Sergey; Marini, Joan C.; Myllyharju, Johanna; Bonnemann, Carsten G. 分享 收藏
Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects Saloustros, Emmanouil; Liu, Sisi; Mertz, Edward L.; Bhattacharyya, Nisan; Starost, Matthew F.; Salpea, Paraskevi; Nesterova, Maria; Collins, Michael; Leikin, Sergey; Stratakis, Constantine A. 分享 收藏
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta Cabral, Wayne A.; Ishikawa, Masaki; Garten, Matthias; Makareeva, Elena N.; Sargent, Brandi M.; Weis, MaryAnn; Barnes, Aileen M.; Webb, Emma A.; Shaw, Nicholas J.; Ala-Kokko, Leena; Lacbawan, Felicitas L.; Hogler, Wolfgang; Leikin, Sergey; Blank, Paul S.; Zimmerberg, Joshua; Eyre, David R.; Yamada, Yoshihiko; Marini, Joan C. 分享 收藏
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta Lindert, Uschi; Cabral, Wayne A.; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M.; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon; Makareeva, Elena N.; Janecke, Andreas R.; Leikin, Sergey; Rothlisberger, Benno; Rohrbach, Marianne; Kennerknecht, Ingo; Eyre, David R.; Suphapeetiporn, Kanya; Giunta, Cecilia; Marini, Joan C.; Shotelersuk, Vorasuk 分享 收藏
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Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin Gistelinck, C.; Gioia, R.; Gagliardi, A.; Tonelli, F.; Marchese, L.; Bianchi, L.; Landi, C.; Bini, L.; Huysseune, A.; Witten, P. E.; Staes, A.; Gevaert, K.; De Rocker, N.; Menten, B.; Malfait, F.; Leikin, S.; Carra, S.; Tenni, R.; Rossi, A.; De Paepe, A.; Coucke, P.; Willaert, A.; Forlino, A. 分享 收藏
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia TAPT1的遗传缺陷会破坏纤毛生成并导致复杂的致死性骨软骨发育不良 Symoens, Sofie; Barnes, Aileen M.; Gistelinck, Charlotte; Malfait, Fransiska; Guillemyn, Brecht; Steyaert, Wouter; Syx, Delfien; D'hondt, Sanne; Biervliet, Martine; De Backer, Julie; Witten, Eckhard P.; Leikin, Sergey; Makareeva, Elena; Gillessen-Kaesbach, Gabriele; Huysseune, Ann; Vleminckx, Kris; Willaert, Andy; De Paepe, Anne; Marini, Joan C.; Coucke, Paul J. 分享 收藏
Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice Liu, Sisi; Saloustros, Emmanouil; Mertz, Edward L.; Tsang, Kitman; Starost, Matthew F.; Salpea, Paraskevi; Faucz, Fabio R.; Szarek, Eva; Nesterova, Maria; Leikin, Sergey; Stratakis, Constantine A. 分享 收藏
Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations Barnes, Aileen M.; Duncan, Geraldine; Weis, MaryAnn; Paton, William; Cabral, Wayne A.; Mertz, Edward L.; Makareeva, Elena; Gambello, Michael J.; Lacbawan, Felicitas L.; Leikin, Sergey; Fertala, Andrzej; Eyre, David R.; Bale, Sherri J.; Marini, Joan C. 分享 收藏
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