Следене
Joan Marini
Joan Marini
Senior Investigator, NICHD, NIH
Потвърден имейл адрес: cc1.nichd.nih.gov
Заглавие
Позовавания
Позовавания
Година
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
7871982
New perspectives on osteogenesis imperfecta
A Forlino, WA Cabral, AM Barnes, JC Marini
Nature Reviews Endocrinology 7 (9), 540-557, 2011
6762011
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
6662007
Osteogenesis imperfecta
A Forlino, JC Marini
The Lancet 387 (10028), 1657-1671, 2016
6532016
Osteogenesis imperfecta
JC Marini, WA Cabral
Genetics of Bone Biology and Skeletal Disease, 397-420, 2018
5572018
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
4962007
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
3572006
The molecular biology of trypanosomes
PT Englund, SL Hajduk, JC Marini
Annual review of biochemistry 51 (1), 695-726, 1982
3001982
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
2952008
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
2542013
Evaluation of oral problems in an osteogenesis imperfecta population
AC O’connell, JC Marini
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and …, 1999
2491999
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
2402005
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
2122013
Decatenation of kinetoplast DNA by topoisomerases.
JC Marini, KG Miller, PT Englund
The Journal of Biological Chemistry 255 (11), 4976-4979, 1980
1951980
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
1862010
Do bisphosphonates make children's bones better or brittle?
JC Marini
New England Journal of Medicine 349 (5), 423-426, 2003
1642003
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
1621984
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
1531999
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
1422014
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
1372004
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Статии 1–20