未登录 Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta Kot, Alexander; Chun, Cora; Martin, Jorge H.; Wachtell, Davis; Hudson, David; Weis, MaryAnn; Marks, Haley; Srivastava, Siddharth; Eyre, David R.; Duran, Ivan; Zieba, Jennifer; Krakow, Deborah 分享 收藏
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta Lim, Joohyun; Lietman, Caressa; Grol, Matthew W.; Castellon, Alexis; Dawson, Brian; Adeyeye, Mary; Rai, Jyoti; Weis, MaryAnn; Keene, Douglas R.; Schweitzer, Ronen; Park, Dongsu; Eyre, David R.; Krakow, Deborah; Lee, Brendan H. 分享 收藏
Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta Grol, Matthew William; Haelterman, Nele A.; Lim, Joohyun; Munivez, Elda M.; Archer, Marilyn; Hudson, David M.; Tufa, Sara F.; Keene, Douglas R.; Lei, Kevin; Park, Dongsu; Kuzawa, Cole D.; Ambrose, Catherine G.; Eyre, David R.; Lee, Brendan H. 分享 收藏
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Dominant-negative SOX9 mutations in campomelic dysplasia campomelic发育异常中的显性阴性SOX9突变 Csukasi, Fabiana; Duran, Ivan; Zhang, Wenjuan; Martin, Jorge H.; Barad, Maya; Bamshad, Michael; Weis, Mary Ann; Eyre, David; Krakow, Deborah; Cohn, Daniel H. 分享 收藏
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies 斑马鱼I型胶原蛋白突变体忠实地概括了人类I型胶原病 Gistelinck, Charlotte; Kwon, Ronald Y.; Malfait, Fransiska; Symoens, Sofie; Harris, Matthew P.; Henke, Katrin; Hawkins, Michael B.; Fisher, Shannon; Sips, Patrick; Guillemyn, Brecht; Bek, Jan Willem; Vermassen, Petra; De Saffel, Hanna; Witten, Paul Eckhard; Weis, MaryAnn; De Paepe, Anne; Eyre, David R.; Willaert, Andy; Coucke, Paul J. 分享 收藏
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L.; McInerney-Leo, Aideen M.; Wheeler, Patricia G.; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Schwarze, Ulrike; Byers, Peter H. 分享 收藏
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A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen Duran, Ivan; Martin, Jorge H.; Weis, Mary Ann; Krejci, Pavel; Konik, Peter; Li, Bing; Alanay, Yasemin; Lietman, Caressa; Lee, Brendan; Eyre, David; Cohn, Daniel H.; Krakow, Deborah 分享 收藏
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone Lietman, Caressa D.; Lim, Joohyun; Grafe, Ingo; Chen, Yuqing; Ding, Hao; Bi, Xiaohong; Ambrose, Catherine G.; Fratzl-Zelman, Nadja; Roschger, Paul; Klaushofer, Klaus; Wagermaier, Wolfgang; Schmidt, Ingo; Fratzl, Peter; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Keene, Douglas R.; Krakow, Deborah; Lee, Brendan H. 分享 收藏
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Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome I型胶原蛋白端肽赖氨酰羟基化的丧失导致Bruck综合征斑马鱼模型的肌肉骨骼异常 Gistelinck, Charlotte; Witten, Paul Eckhard; Huysseune, Ann; Symoens, Sofie; Malfait, Fransiska; Larionova, Daria; Simoens, Pascal; Dierick, Manuel; Van Hoorebeke, Luc; De Paepe, Anne; Kwon, Ronald Y.; Weis, MaryAnn; Eyre, David R.; Willaert, Andy; Coucke, Paul J. 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
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization Fratzl-Zelman, Nadja; Barnes, Aileen M.; Weis, MaryAnn; Carter, Erin; Hefferan, Theresa E.; Perino, Giorgio; Chang, Weizhong; Smith, Peter A.; Roschger, Paul; Klaushofer, Klaus; Glorieux, Francis H.; Eyre, David R.; Raggio, Cathleen; Rauch, Frank; 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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