J
Joan C. Marini
Researcher at National Institutes of Health
Publications - 172
Citations - 9680
Joan C. Marini is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Osteogenesis imperfecta & Type I collagen. The author has an hindex of 49, co-authored 162 publications receiving 8762 citations. Previous affiliations of Joan C. Marini include Johns Hopkins University School of Medicine & Johns Hopkins University.
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Journal ArticleDOI
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
TL;DR: This is the first report of a collagen defect in OI with alternative splicing generating both in-frame and out-of-frame forms of mRNA.
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Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Heeseog Kang,Smita Jha,Aleksandra Ivovic,Nadja Fratzl-Zelman,Zuoming Deng,Apratim Mitra,Wayne A. Cabral,Eric P. Hanson,Eileen Lange,Edward W. Cowen,James D. Katz,Paul Roschger,Klaus Klaushofer,Ryan K. Dale,Richard M. Siegel,Timothy Bhattacharyya,Joan C. Marini +16 more
TL;DR: Somatic mosaicism for MAP2K1-activating mutations causes radiographical “dripping candle wax” melorheostosis and the SMAD3 mutations increase TGF-β signaling and stimulate osteoblast differentiation and matrix mineralization.
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Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
Emma A Webb,Emma A Webb,Emma A Webb,Meena Balasubramanian,Nadja Fratzl-Zelman,Wayne A. Cabral,Hannah Titheradge,Atif Alsaedi,Vrinda Saraff,Julie Vogt,Trevor Cole,Susan L. Stewart,Nicola Crabtree,Brandi M. Sargent,Sonja Gamsjaeger,Eleftherios P. Paschalis,Paul Roschger,Klaus Klaushofer,Nick Shaw,Nick Shaw,Nick Shaw,Joan C. Marini,Wolfgang Högler,Wolfgang Högler,Wolfgang Högler +24 more
TL;DR: OI type XIV has a bone histology, matrix mineralization, and osteoblast differentiation pattern that is distinct from OI with collagen defects, and probands are responsive to bisphosphonates and some show muscular and cardiovascular features possibly related to intracellular calcium flux abnormalities.
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Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis
TL;DR: Mutation detection in OI is important for counselling, reproductive decisions, exclusion of child abuse, and genotype-phenotype correlations and requires supplementation by molecular analysis of cDNA or gDNA in the amino third of α1(I) and amino half of α2(I).
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Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.
Lauren A Barber,Lauren A Barber,Craig B. Abbott,Vihang Nakhate,Vihang Nakhate,An N Dang Do,Angela R. Blissett,Angela R. Blissett,Joan C. Marini +8 more
TL;DR: OI type is a stronger contributing factor than gender for OI growth, while curves do not differ for COL1A1 versusCOL1A2 pathogenic variants.