High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta

Por Cabral, Wayne A., Marini, Joan C.
Publicado em 2004

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

Por Marini, Joan C., Cabral, Wayne A., Barnes, Aileen M.
Publicado em 2009

New Perspectives on Osteogenesis Imperfecta

Por Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., Marini, Joan C.
Publicado em 2011

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Por Chang, Weizhong, Barnes, Aileen M., Cabral, Wayne A., Bodurtha, Joann N., Marini, Joan C.
Publicado em 2010

Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta

Por Kemp, Arika D., Harding, Chad C., Cabral, Wayne A., Marini, Joan C., Wallace, Joseph M.
Publicado em 2012

Mineral and Matrix Changes in Brtl/+ Teeth Provide Insights into Mineralization Mechanisms

Por Boskey, Adele L., Verdelis, Kostas, Spevak, Lyudmila, Lukashova, Lyudmila, Beniash, Elia, Yang, Xu, Cabral, Wayne A., Marini, Joan C.
Publicado em 2013

Type V OI Primary Osteoblasts Display Increased Mineralization Despite Decreased COL1A1 Expression

Por Reich, Adi, Bae, Alison S., Barnes, Aileen M., Cabral, Wayne A., Hinek, Aleksander, Stimec, Jennifer, Hill, Suvimol C., Chitayat, David, Marini, Joan C.
Publicado no J Clin Endocrinol Metab (2015)

Absence of FKBP10 in Recessive Type XI Osteogenesis Imperfecta Leads to Diminished Collagen Cross-Linking and Reduced Collagen Deposition in Extracellular Matrix

Por Barnes, Aileen M., Cabral, Wayne A., Weis, MaryAnn, Makareeva, Elena, Mertz, Edward L., Leikin, Sergey, Eyre, David, Trujillo, Carlos, Marini, Joan C.
Publicado em 2012

Mapping of SPARC/BM-40/Osteonectin-binding Sites on Fibrillar Collagens

Por Giudici, Camilla, Raynal, Nicolas, Wiedemann, Hanna, Cabral, Wayne A., Marini, Joan C., Timpl, Rupert, Bächinger, Hans Peter, Farndale, Richard W., Sasaki, Takako, Tenni, Ruggero
Publicado em 2008

Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors

Por Uveges, Thomas E, Collin-Osdoby, Patricia, Cabral, Wayne A, Ledgard, Felicia, Goldberg, Leah, Bergwitz, Clemens, Forlino, Antonella, Osdoby, Philip, Gronowicz, Gloria A, Marini, Joan C
Publicado em 2008

Alzheimer's disease‐causing proline substitutions lead to presenilin 1 aggregation and malfunction

Por Ben‐Gedalya, Tziona, Moll, Lorna, Bejerano‐Sagie, Michal, Frere, Samuel, Cabral, Wayne A, Friedmann‐Morvinski, Dinorah, Slutsky, Inna, Burstyn‐Cohen, Tal, Marini, Joan C, Cohen, Ehud
Publicado no EMBO J (2015)

A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

Por Farber, Charles R, Reich, Adi, Barnes, Aileen M, Becerra, Patricia, Rauch, Frank, Cabral, Wayne A, Bae, Alison, Quinlan, Aaron, Glorieux, Francis H, Clemens, Thomas L, Marini, Joan C
Publicado no J Bone Miner Res (2014)

Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen

Por Terajima, Masahiko, Taga, Yuki, Chen, Yulong, Cabral, Wayne A., Hou-Fu, Guo, Srisawasdi, Sirivimol, Nagasawa, Masako, Sumida, Noriko, Hattori, Shunji, Kurie, Jonathan M., Marini, Joan C., Yamauchi, Mitsuo
Publicado no J Biol Chem (2016)

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

Por Barnes, Aileen M., Carter, Erin M., Cabral, Wayne A., Weis, MaryAnn, Chang, Weizhong, Makareeva, Elena, Leikin, Sergey, Rotimi, Charles N., Eyre, David R., Raggio, Cathleen L., Marini, Joan C.
Publicado em 2010

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

Por 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.
Publicado em 2013

Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

Por Cabral, Wayne A., Perdivara, Irina, Weis, MaryAnn, Terajima, Masahiko, Blissett, Angela R., Chang, Weizhong, Perosky, Joseph E., Makareeva, Elena N., Mertz, Edward L., Leikin, Sergey, Tomer, Kenneth B., Kozloff, Kenneth M., Eyre, David R., Yamauchi, Mitsuo, Marini, Joan C.
Publicado em 2014

Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates

Por Sweeney, Shawn M., Orgel, Joseph P., Fertala, Andrzej, McAuliffe, Jon D., Turner, Kevin R., Di Lullo, Gloria A., Chen, Steven, Antipova, Olga, Perumal, Shiamalee, Ala-Kokko, Leena, Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., Marini, Joan C., Antonio, James D. San
Publicado em 2008

A Founder Mutation in LEPRE1 Carried by 1.5% of West Africans and 0.4% of African Americans Causes Lethal Recessive Osteogenesis Imperfecta

Por Cabral, Wayne A., Barnes, Aileen M., Adeyemo, Adebowale, Cushing, Kelly, Chitayat, David, Porter, Forbes D., Panny, Susan R., Gulamali-Majid, Fizza, Tishkoff, Sarah A., Rebbeck, Timothy R., Gueye, Serigne M., Bailey-Wilson, Joan E., Brody, Lawrence C., Rotimi, Charles N., Marini, Joan C.
Publicado em 2012

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

Por 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., Högler, Wolfgang, Leikin, Sergey, Blank, Paul S., Zimmerberg, Joshua, Eyre, David R., Yamada, Yoshihiko, Marini, Joan C.
Publicado no PLoS Genet (2016)

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

Por Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang
Publicado no J Clin Endocrinol Metab (2017)