Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Wayne A Cabral

Showing results (31-40 of 48) with videos related to

Pageof 5
Sort By:
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 23, 2019
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal ReactionNadja Fratzl-Zelman, Paul Roschger, Heeseog Kang, et al.
Aging Cell|June 26, 2023
Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populationsWayne A Cabral, Chris Stephan, Masahiko Terajima, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 6, 2019
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processingAileen M Barnes, Aarthi Ashok, Elena N Makareeva, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
Nature Communications|April 13, 2018
Somatic activating mutations in MAP2K1 cause melorheostosisHeeseog Kang, Smita Jha, Zuoming Deng, et al.
Nature Medicine|March 12, 2021
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndromeMichael R Erdos, Wayne A Cabral, Urraca L Tavarez, et al.
Plos Genetics|June 27, 2014
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfectaWayne A Cabral, Irina Perdivara, MaryAnn Weis, et al.
Nature Genetics|February 6, 2007
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfectaWayne A Cabral, Weizhong Chang, Aileen M Barnes, et al.
The Journal of Experimental Medicine|April 2, 2020
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathwayHeeseog Kang, Smita Jha, Aleksandra Ivovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 23, 2019
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal ReactionNadja Fratzl-Zelman, Paul Roschger, Heeseog Kang, et al.
Aging Cell|June 26, 2023
Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populationsWayne A Cabral, Chris Stephan, Masahiko Terajima, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 6, 2019
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processingAileen M Barnes, Aarthi Ashok, Elena N Makareeva, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
Nature Communications|April 13, 2018
Somatic activating mutations in MAP2K1 cause melorheostosisHeeseog Kang, Smita Jha, Zuoming Deng, et al.
Nature Medicine|March 12, 2021
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndromeMichael R Erdos, Wayne A Cabral, Urraca L Tavarez, et al.
Plos Genetics|June 27, 2014
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfectaWayne A Cabral, Irina Perdivara, MaryAnn Weis, et al.
Nature Genetics|February 6, 2007
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfectaWayne A Cabral, Weizhong Chang, Aileen M Barnes, et al.
The Journal of Experimental Medicine|April 2, 2020
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathwayHeeseog Kang, Smita Jha, Aleksandra Ivovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
Pageof 5