RAS in FGF23: Another Piece in the Puzzle

Yazar: Ovejero, Diana, Collins, Michael T.
Baskı/Yayın Bilgisi 2014

Mosaic Disorders of FGF23 Excess: Fibrous Dysplasia/McCune-Albright Syndrome and Cutaneous Skeletal Hypophosphatemia Syndrome

Yazar: de Castro, Luis F, Ovejero, Diana, Boyce, Alison M
Yayımlandı Eur J Endocrinol (2020)

Cutaneous-Skeletal Hypophosphatemia Syndrome is a Multilineage Somatic Mosaic RASopathy

Yazar: Lim, Young H., Ovejero, Diana, Derrick, Kristina M., Collins, Michael T., Choate, Keith A.
Yayımlandı J Am Acad Dermatol (2016)

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

Yazar: Martínez-Gil, Núria, Roca-Ayats, Neus, Cozar, Mónica, Garcia-Giralt, Natàlia, Ovejero, Diana, Nogués, Xavier, Grinberg, Daniel, Balcells, Susanna
Yayımlandı Int J Mol Sci (2021)

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

Yazar: Ugartondo, Nerea, Martínez-Gil, Núria, Esteve, Mònica, Garcia-Giralt, Natàlia, Roca-Ayats, Neus, Ovejero, Diana, Nogués, Xavier, Díez-Pérez, Adolfo, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Yayımlandı Int J Mol Sci (2021)

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus

Yazar: Martínez‐Gil, Núria, Roca‐Ayats, Neus, Atalay, Nurgül, Pineda‐Moncusí, Marta, Garcia‐Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez‐Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna
Yayımlandı JBMR Plus (2020)

Expression of an active Gα(s) mutant in skeletal stem cells is sufficient and necessary for fibrous dysplasia initiation and maintenance

Yazar: Zhao, Xuefeng, Deng, Peng, Iglesias-Bartolome, Ramiro, Amornphimoltham, Panomwat, Steffen, Dana J., Jin, Yunyun, Molinolo, Alfredo A., de Castro, Luis Fernandez, Ovejero, Diana, Yuan, Quan, Chen, Qianming, Han, Xianglong, Bai, Ding, Taylor, Susan S., Yang, Yingzi, Collins, Michael T., Gutkind, J. Silvio
Yayımlandı Proc Natl Acad Sci U S A (2018)

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Yazar: Lim, Young H., Ovejero, Diana, Sugarman, Jeffrey S., DeKlotz, Cynthia M.C., Maruri, Ann, Eichenfield, Lawrence F., Kelley, Patrick K., Jüppner, Harald, Gottschalk, Michael, Tifft, Cynthia J., Gafni, Rachel I., Boyce, Alison M., Cowen, Edward W., Bhattacharyya, Nisan, Guthrie, Lori C., Gahl, William A., Golas, Gretchen, Loring, Erin C., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Levy, Moise L., Collins, Michael T., Choate, Keith A.
Baskı/Yayın Bilgisi 2014