ArticleThe Journal of biological chemistry2016
Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.
Article in The Journal of biological chemistry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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.
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
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Hajdu-Cheney Syndrome: A Systematic Review of the Literature.International journal of environmental research and public health · 2020Pooled it
- NOTCH3 disrupts the osteoblast transcriptome in femoral bone of 1-month-old male C57BL/6 mice.Bone · 2026Article
- A NOTCH2 pathogenic variant alters the osteoblast and vascular cell transcriptome of mouse femurs.Bone · 2026Article
- Article
- Role of Notch signaling in corticalization.Journal of endocrinological investigation · 2026Review
- Traditional Chinese Medicine for osteoporosis management: from molecular mechanisms to drug discovery.Chinese medicine · 2026Review
- Inactivation of Hes1 in Skeletal Undifferentiated Cells Increases Bone Volume.Endocrinology · 2026Article
- Notch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.bioRxiv : the preprint server for biology · 2026Article
- Article
- The Notch signaling pathway in regulating bone and cartilage homeostasis: novel insights into the pathogenesis and therapeutics of osteoarthritis.Cell communication and signaling : CCS · 2025Review
- Article
- A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.Bone · 2025Article
- Article
- Review
- The role of magnesium in the pathogenesis of osteoporosis.Frontiers in endocrinology · 2024Review
- The Notch1 signaling pathway directly modulates the human RANKL-induced osteoclastogenesis.Scientific reports · 2023Article
- Article
- Article
- Article
- Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.International journal of molecular sciences · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Notch receptors are determinants of cell fate and function and play a central role in skeletal development and bone remodeling. Hajdu Cheney syndrome, a disease characterized by osteoporosis and fractures, is associated with NOTCH2 mutations resulting in a truncated stable protein and gain-of-function. We created a mouse model reproducing the Hajdu Cheney syndrome by introducing a 6955C→T mutation in the Notch2 locus leading to a Q2319X change at the amino acid level. Notch2(Q2319X) heterozygous mutants were smaller and had shorter femurs than controls; and at 1 month of age they exhibited cancellous and cortical bone osteopenia. As the mice matured, cancellous bone volume was restored partially in male but not female mice, whereas cortical osteopenia persisted in both sexes. Cancellous bone histomorphometry revealed an increased number of osteoclasts and bone resorption, without a decrease in osteoblast number or bone formation. Osteoblast differentiation and function were not affected in Notch2(Q2319X) cells. The pre-osteoclast cell pool, osteoclast differentiation, and bone resorption in response to receptor activator of nuclear factor κB ligand in vitro were increased in Notch2(Q2319X) mutants. These effects were suppressed by the γ-secretase inhibitor LY450139. In conclusion, Notch2(Q2319X) mice exhibit cancellous and cortical bone osteopenia, enhanced osteoclastogenesis, and increased bone resorption.
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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.