Joan Marini
Joan Marini
Senior Investigator, NICHD, NIH
Adresse e-mail validée de cc1.nichd.nih.gov
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Bent helical structure in kinetoplast DNA
JC Marini, SD Levene, DM Crothers, PT Englund
Proceedings of the National Academy of Sciences 79 (24), 7664-7668, 1982
7811982
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and …
JC Marini, A Forlino, WA Cabral, AM Barnes, JD San Antonio, S Milgrom, ...
Human mutation 28 (3), 209-221, 2007
6162007
New perspectives on osteogenesis imperfecta
A Forlino, WA Cabral, AM Barnes, JC Marini
Nature Reviews Endocrinology 7 (9), 540, 2011
6082011
Osteogenesis imperfecta
A Forlino, JC Marini
The Lancet 387 (10028), 1657-1671, 2016
5412016
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
WA Cabral, W Chang, AM Barnes, MA Weis, MA Scott, S Leikin, ...
Nature genetics 39 (3), 359-365, 2007
4752007
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
AM Barnes, W Chang, R Morello, WA Cabral, MA Weis, DR Eyre, S Leikin, ...
New England Journal of Medicine 355 (26), 2757-2764, 2006
3412006
Osteogenesis imperfecta
JC Marini, A Forlino, HP Bächinger, NJ Bishop, PH Byers, A De Paepe, ...
Nature reviews Disease primers 3 (1), 1-19, 2017
3132017
The molecular biology of trypanosomes
PT Englund, SL Hajduk, JC Marini
Annual review of biochemistry 51 (1), 695-726, 1982
2921982
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates
SM Sweeney, JP Orgel, A Fertala, JD McAuliffe, KR Turner, GA Di Lullo, ...
Journal of biological chemistry 283 (30), 21187-21197, 2008
2742008
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short‐term functional improvement
AD Letocha, HL Cintas, JF Troendle, JC Reynolds, CE Cann, EJ Chernoff, ...
Journal of Bone and Mineral Research 20 (6), 977-986, 2005
2362005
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
2302013
Evaluation of oral problems in an osteogenesis imperfecta population
AC O’connell, JC Marini
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and …, 1999
2301999
New genes in bone development: what's new in osteogenesis imperfecta
JC Marini, AR Blissett
The Journal of Clinical Endocrinology & Metabolism 98 (8), 3095-3103, 2013
1892013
Decatenation of kinetoplast DNA by topoisomerases.
JC Marini, KG Miller, PT Englund
Journal of Biological Chemistry 255 (11), 4976-4979, 1980
1891980
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
AM Barnes, EM Carter, WA Cabral, MA Weis, W Chang, E Makareeva, ...
New England Journal of Medicine 362 (6), 521-528, 2010
1832010
Physical characterization of a kinetoplast DNA fragment with unusual properties.
JC Marini, PN Effron, TC Goodman, CK Singleton, RD Wells, RM Wartell, ...
Journal of Biological Chemistry 259 (14), 8974-8979, 1984
1601984
Do bisphosphonates make children's bones better or brittle?
JC Marini
New England Journal of Medicine 349 (5), 423-426, 2003
1542003
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an α1 (I) G349C substitution: variability in phenotype in …
A Forlino, FD Porter, EJ Lee, H Westphal, JC Marini
Journal of Biological Chemistry 274 (53), 37923-37931, 1999
1391999
Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength
KM Kozloff, A Carden, C Bergwitz, A Forlino, TE Uveges, MD Morris, ...
Journal of Bone and Mineral Research 19 (4), 614-622, 2004
1322004
Osteogenesis imperfecta due to mutations in non-collagenous genes-lessons in the biology of bone formation
JC Marini, A Reich, SM Smith
Current opinion in pediatrics 26 (4), 500, 2014
1252014
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