 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.
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
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| MeSH Number(s) |
C05.116.099.708.685 C16.320.737 C17.300.200.540
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| Concept/Terms |
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
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Below are MeSH descriptors whose meaning is more general than "Osteogenesis Imperfecta".
Below are MeSH descriptors whose meaning is more specific than "Osteogenesis Imperfecta".
This graph shows the total number of publications written about "Osteogenesis Imperfecta" by people in UAMS Profiles by year, and whether "Osteogenesis Imperfecta" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2022 | 1 | 0 | 1 | | 2020 | 4 | 0 | 4 | | 2018 | 1 | 2 | 3 | | 2016 | 1 | 1 | 2 | | 2014 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2011 | 2 | 0 | 2 | | 2010 | 1 | 0 | 1 | | 2008 | 2 | 0 | 2 | | 2006 | 2 | 0 | 2 | | 2005 | 0 | 1 | 1 | | 1996 | 1 | 0 | 1 |
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Below are the most recent publications written about "Osteogenesis Imperfecta" by people in Profiles over the past ten years.
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Dimori M, Fett J, Leikin S, Otsuru S, Thostenson JD, Carroll JL, Morello R. Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta. J Physiol. 2023 01; 601(2):355-379.
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Whyte MP, Aronson J, McAlister WH, Weinstein RS, Wenkert D, Clements KL, Gottesman GS, Madson KL, Stolina M, Bijanki VN, Plotkin H, Huskey M, Duan S, Mumm S. Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. Bone. 2021 04; 145:115835.
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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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Xu H, Lenhart SA, Chu EY, Chavez MB, Wimer HF, Dimori M, Somerman MJ, Morello R, Foster BL, Hatch NE. Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. Dev Dyn. 2020 07; 249(7):884-897.
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Dimori M, Heard-Lipsmeyer ME, Byrum SD, Mackintosh SG, Kurten RC, Carroll JL, Morello R. Respiratory defects in the CrtapKO mouse model of osteogenesis imperfecta. Am J Physiol Lung Cell Mol Physiol. 2020 04 01; 318(4):L592-L605.
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O'Brien CA, Morello R. Modeling Rare Bone Diseases in Animals. Curr Osteoporos Rep. 2018 08; 16(4):458-465.
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Morello R. Osteogenesis imperfecta and therapeutics. Matrix Biol. 2018 10; 71-72:294-312.
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Kegelman CD, Mason DE, Dawahare JH, Horan DJ, Vigil GD, Howard SS, Robling AG, Bellido TM, Boerckel JD. Skeletal cell YAP and TAZ combinatorially promote bone development. FASEB J. 2018 05; 32(5):2706-2721.
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Heard ME, Besio R, Weis M, Rai J, Hudson DM, Dimori M, Zimmerman SM, Kamykowski JA, Hogue WR, Swain FL, Burdine MS, Mackintosh SG, Tackett AJ, Suva LJ, Eyre DR, Morello R. Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation. PLoS Genet. 2016 Apr; 12(4):e1006002.
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Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse. Am J Med Genet A. 2016 07; 170(7):1858-62.
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