Osteogenesis Imperfecta

"Osteogenesis Imperfecta" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

Descriptor ID	D010013
MeSH Number(s)	C05.116.099.708.685 C16.320.737 C17.300.200.540
Concept/Terms	Osteogenesis Imperfecta Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Ossiums, Fragilitas Lobstein's Disease Lobstein's Disease Disease, Lobstein's Lobsteins Disease Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta with Blue Sclerae Osteogenesis Imperfecta, Type 1 Lobstein Disease Disease, Lobstein Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta Tardas

Below are MeSH descriptors whose meaning is more general than "Osteogenesis Imperfecta".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Osteochondrodysplasias [C05.116.099.708]
Osteogenesis Imperfecta [C05.116.099.708.685]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Osteogenesis Imperfecta [C16.320.737]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Collagen Diseases [C17.300.200]
Osteogenesis Imperfecta [C17.300.200.540]

Below are MeSH descriptors whose meaning is related to "Osteogenesis Imperfecta".

Below are MeSH descriptors whose meaning is more specific than "Osteogenesis Imperfecta".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Osteogenesis Imperfecta" by people in this website by year, and whether "Osteogenesis Imperfecta" was a major or minor topic of these publications.

Bar chart showing 57 publications over 18 distinct years, with a maximum of 8 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1993	1	0	1
2000	2	0	2
2005	0	1	1
2007	1	0	1
2008	1	0	1
2009	1	0	1
2011	1	0	1
2012	1	0	1
2013	4	1	5
2014	6	0	6
2015	4	0	4
2016	3	0	3
2017	4	0	4
2018	6	0	6
2019	7	1	8
2020	4	0	4
2021	6	0	6
2022	2	0	2

Below are the most recent publications written about "Osteogenesis Imperfecta" by people in Profiles.

Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B. Targeting TGF-ß for treatment of osteogenesis imperfecta. J Clin Invest. 2022 04 01; 132(7).

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Duran I, Zieba J, Csukasi F, Martin JH, Wachtell D, Barad M, Dawson B, Fafilek B, Jacobsen CM, Ambrose CG, Cohn DH, Krejci P, Lee BH, Krakow D. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686.

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Chen Y, Yang S, Lovisa S, Ambrose CG, McAndrews KM, Sugimoto H, Kalluri R. Type-I collagen produced by distinct fibroblast lineages reveals specific function during embryogenesis and Osteogenesis Imperfecta. Nat Commun. 2021 12 10; 12(1):7199.

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Lim J, Lietman C, Grol MW, Castellon A, Dawson B, Adeyeye M, Rai J, Weis M, Keene DR, Schweitzer R, Park D, Eyre DR, Krakow D, Lee BH. Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta. Proc Natl Acad Sci U S A. 2021 06 22; 118(25).

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Grol MW, Haelterman NA, Lim J, Munivez EM, Archer M, Hudson DM, Tufa SF, Keene DR, Lei K, Park D, Kuzawa CD, Ambrose CG, Eyre DR, Lee BH. Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta. Elife. 2021 05 26; 10.

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Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE, Maqbool S, Lupski JR, Houlden H. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.

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Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362.

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Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B, Nagamani SCS. Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779.

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Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct; 183(4):R95-R106.

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Rauch D, Robinson ME, Seiltgens C, Sutton VR, Lee B, Glorieux F, Rauch F. Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone. 2020 11; 140:115547.

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