ReviewCurrent osteoporosis reports2016
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.
Review in Current osteoporosis reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 38 citations in OpenAlex.
- Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Dimerization-dependent NOTCH receptor transactivation unveils a class of highly selective NOTCH signalling inhibitors.The FEBS journal · 2026Article
- Article
- Notch2 Inhibition and Kidney Cyst Growth in Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2025Article
- Anaesthesia for a patient of Hajdu Cheney syndrome scheduled for scoliosis surgery-A case study.Indian journal of anaesthesia · 2024Article
- Article
- Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.JBMR plus · 2023Article
- Exploratory use of romosozumab for osteoporosis in a patient with Hajdu-Cheney syndrome: a case report.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2023Article
- Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.International journal of molecular sciences · 2022Review
- Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments.Annals of medicine and surgery (2012) · 2021Article
- Cortical bone development, maintenance and porosity: genetic alterations in humans and mice influencing chondrocytes, osteoclasts, osteoblasts and osteocytes.Cellular and molecular life sciences : CMLS · 2021Review
- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
- A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.Endocrine · 2021Article
- Major skull manifestations of skeletal dysplasias - pictorial essay.Pediatric radiology · 2020Review
- NovelInternational journal of molecular sciences · 2019Article
- The role of oncogenic Notch2 signaling in cancer: a novel therapeutic target.American journal of cancer research · 2019Review
- Article
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2 leading to the translation of a truncated NOTCH2 stable protein. As a consequence, a gain-of-NOTCH2 function is manifested. HCS is inherited as an autosomal dominant disease although sporadic cases exist. HCS is characterized by craniofacial developmental defects, including platybasia and wormian bones, osteoporosis with fractures, and acro-osteolysis. Subjects may suffer severe neurological complications, and HCS presents with cardiovascular defects and polycystic kidneys. An experimental mouse model harboring a HCSNotch2 mutation exhibits osteopenia secondary to enhanced bone resorption suggesting this as a possible mechanism for the skeletal disease. If the same mechanisms were operational in humans, anti-resorptive therapy could correct the bone loss, but not necessarily the acro-osteolysis. In conclusion, HCS is a devastating disease associated with a gain-of-NOTCH2 function resulting in diverse clinical manifestations.
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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.