ArticleAmerican journal of human genetics2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
What it found
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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.
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Who cites it
113 citing papers in PubMed, 225 citations in OpenAlex.
- Regeneration programs buffer genetic defects in animal development.PLoS biology · 2026Article
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- Secretome Release During In Vitro Bone Marrow-Derived Mesenchymal Stem Cell Differentiation Induced by Bio-OssInternational journal of molecular sciences · 2025Article
- Connecting Bone Remodeling and Regeneration: Unraveling Hormones and Signaling Pathways.Biology · 2025Review
- Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.Calcified tissue international · 2024Review
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- wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases.Biomolecules · 2023Review
- Analysis of miRNAs inPharmaceuticals (Basel, Switzerland) · 2023Article
- Proteomic Analysis of Mesenchymal Stromal Cells Secretome in Comparison to Leukocyte- and Platelet-Rich Fibrin.International journal of molecular sciences · 2023Article
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- Farnesyl diphosphate synthase promotes cell proliferation by regulating gene expression and alternative splicing profiles in HeLa cells.Oncology letters · 2023Article
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- Small-Molecule-Mediated Suppression of BMP Signaling by Selective Inhibition of BMP1-Dependent Chordin Cleavage.International journal of molecular sciences · 2023Article
- Pathways Controlling Formation and Maintenance of the Osteocyte Dendrite Network.Current osteoporosis reports · 2022Review
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- An Update on Animal Models of Osteogenesis Imperfecta.Calcified tissue international · 2022Review
- Gene Expression Profiles of Human Mesenchymal Stromal Cells Derived from Wharton's Jelly and Amniotic Membrane before and after Osteo-Induction Using NanoString Platform.Current issues in molecular biology · 2022Article
53 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 6 institutions in 4 countries.
Funding
Abstract
Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix proteins and antagonists of some TGFβ superfamily members. Combining whole-exome sequencing and filtering for homozygous stretches of identified variants, we found a homozygous causative BMP1 mutation, c.34G>C, in a consanguineous family affected by increased bone mineral density and multiple recurrent fractures. The mutation is located within the BMP1 signal peptide and leads to impaired secretion and an alteration in posttranslational modification. We also characterize a zebrafish bone mutant harboring lesions in bmp1a, demonstrating conservation of BMP1 function in osteogenesis across species. Genetic, biochemical, and histological analyses of this mutant and a comparison to a second, similar locus reveal that Bmp1a is critically required for mature-collagen generation, downstream of osteoblast maturation, in bone. We thus define the molecular and cellular bases of BMP1-dependent osteogenesis and show the importance of this protein for bone formation and stability.
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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.