ArticlePloS one2010
Generalized connective tissue disease in Crtap-/- mouse.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review.Annals of medicine · 2021Pooled it
- Lung scRNA-seq reveals chronic inflammation and emphysemous phenotype in mice with osteogenesis imperfecta.Frontiers in genetics · 2026Article
- Article
- Alendronate partially rescues the periodontal defects in OIM mouse model of osteogenesis imperfecta.Scientific reports · 2025Article
- Lung function in adult patients with osteogenesis imperfecta: a cohort study.Orphanet journal of rare diseases · 2024Article
- Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.Calcified tissue international · 2024Review
- Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities.Journal of medical genetics · 2023Article
- A Founder Intronic Variant inGenes · 2023Article
- Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta.The Journal of physiology · 2023Article
- On the association between Chiari malformation type 1, bone mineral density and bone related genes.Bone reports · 2022Article
- Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.Physiological reports · 2022Article
- Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.Endocrine reviews · 2022Review
- Tendon and motor phenotypes in theeLife · 2021Article
- Osteogenesis imperfecta: an update on clinical features and therapies.European journal of endocrinology · 2020Review
- Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.Matrix biology : journal of the International Society for Matrix Biology · 2020Article
- Dental and craniofacial defects in the CrtapDevelopmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Respiratory defects in theAmerican journal of physiology. Lung cellular and molecular physiology · 2020Article
- Review
- A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.Clinical genetics · 2018Article
- Pulmonary and diaphragmatic pathology in collagen type I α1 mutant mice with osteogenesis imperfecta.Pediatric research · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Mutations in CRTAP (coding for cartilage-associated protein), LEPRE1 (coding for prolyl 3-hydroxylase 1 [P3H1]) or PPIB (coding for Cyclophilin B [CYPB]) cause recessive forms of osteogenesis imperfecta and loss or decrease of type I collagen prolyl 3-hydroxylation. A comprehensive analysis of the phenotype of the Crtap-/- mice revealed multiple abnormalities of connective tissue, including in the lungs, kidneys, and skin, consistent with systemic dysregulation of collagen homeostasis within the extracellular matrix. Both Crtap-/- lung and kidney glomeruli showed increased cellular proliferation. Histologically, the lungs showed increased alveolar spacing, while the kidneys showed evidence of segmental glomerulosclerosis, with abnormal collagen deposition. The Crtap-/- skin had decreased mechanical integrity. In addition to the expected loss of proline 986 3-hydroxylation in alpha1(I) and alpha1(II) chains, there was also loss of 3Hyp at proline 986 in alpha2(V) chains. In contrast, at two of the known 3Hyp sites in alpha1(IV) chains from Crtap-/- kidneys there were normal levels of 3-hydroxylation. On a cellular level, loss of CRTAP in human OI fibroblasts led to a secondary loss of P3H1, and vice versa. These data suggest that both CRTAP and P3H1 are required to maintain a stable complex that 3-hydroxylates canonical proline sites within clade A (types I, II, and V) collagen chains. Loss of this activity leads to a multi-systemic connective tissue disease that affects bone, cartilage, lung, kidney, and skin.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.