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

ανά Cabral, Wayne A., Marini, Joan C.
Έκδοση 2004

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

ανά Marini, Joan C., Cabral, Wayne A., Barnes, Aileen M.
Έκδοση 2009

New Perspectives on Osteogenesis Imperfecta

ανά Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., Marini, Joan C.
Έκδοση 2011

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

ανά Chang, Weizhong, Barnes, Aileen M., Cabral, Wayne A., Bodurtha, Joann N., Marini, Joan C.
Έκδοση 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

ανά Kemp, Arika D., Harding, Chad C., Cabral, Wayne A., Marini, Joan C., Wallace, Joseph M.
Έκδοση 2012

PrP-containing aggresomes are cytosolic components of an ER quality control mechanism

ανά Dubnikov, Tatyana, Ben-Gedalya, Tziona, Reiner, Robert, Hoepfner, Dominic, Cabral, Wayne A., Marini, Joan C., Cohen, Ehud
Τόπος έκδοσης J Cell Sci (2016)

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

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

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

ανά Reich, Adi, Bae, Alison S., Barnes, Aileen M., Cabral, Wayne A., Hinek, Aleksander, Stimec, Jennifer, Hill, Suvimol C., Chitayat, David, Marini, Joan C.
Τόπος έκδοσης 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

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

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

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

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

ανά 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
Έκδοση 2008

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

ανά 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
Τόπος έκδοσης EMBO J (2015)

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

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης J Biol Chem (2016)

Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups

ανά Cubria, Maria B., Suarez, Sebastian, Masoudi, Aidin, Oftadeh, Ramin, Kamalapathy, Pramod, DuBose, Amanda, Erdos, Michael R., Cabral, Wayne A., Karim, Lamya, Collins, Francis S., Snyder, Brian D., Nazarian, Ara
Τόπος έκδοσης Proc Natl Acad Sci U S A (2020)

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

ανά 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.
Έκδοση 2010

Cyclophilin B control of lysine post-translational modifications of skin type I collagen

ανά Terajima, Masahiko, Taga, Yuki, Cabral, Wayne A., Liu, Ying, Nagasawa, Masako, Sumida, Noriko, Kayashima, Yukako, Chandrasekaran, Prashant, Han, Lin, Maeda, Nobuyo, Perdivara, Irina, Hattori, Shunji, Marini, Joan C., Yamauchi, Mitsuo
Τόπος έκδοσης PLoS Genet (2019)

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction

ανά Fratzl-Zelman, Nadja, Roschger, Paul, Kang, Heeseog, Jha, Smita, Roschger, Andreas, Blouin, Stéphane, Deng, Zuoming, Cabral, Wayne A, Ivovic, Aleksandra, Katz, James, Siegel, Richard M, Klaushofer, Klaus, Fratzl, Peter, Bhattacharyya, Timothy, Marini, Joan C
Τόπος έκδοσης J Bone Miner Res (2019)

COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

ανά Barnes, Aileen M., Ashok, Aarthi, Makareeva, Elena N., Brusel, Marina, Cabral, Wayne A., Weis, MaryAnn, Moali, Catherine, Bettler, Emmanuel, Eyre, David R., Cassella, John P., Leikin, Sergey, Hulmes, David J.S., Kessler, Efrat, Marini, Joan C.
Τόπος έκδοσης Biochim Biophys Acta Mol Basis Dis (2019)

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

ανά 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.
Έκδοση 2013