ReviewMetabolism: clinical and experimental2018
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.
Review in Metabolism: clinical and experimental, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- A NOTCH2 pathogenic variant alters the osteoblast and vascular cell transcriptome of mouse femurs.Bone · 2026Article
- Article
- A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.Bone · 2025Article
- Fracture healing in a mouse model of Hajdu-Cheney-Syndrome with high turnover osteopenia results in decreased biomechanical stability.Scientific reports · 2023Article
- Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.International journal of molecular sciences · 2022Review
- Article
- 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
- Relevance of Notch Signaling for Bone Metabolism and Regeneration.International journal of molecular sciences · 2021Review
- Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.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
- Review
- Antisense oligonucleotides targetingThe Journal of biological chemistry · 2020Article
- Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.BMC musculoskeletal disorders · 2020Review
- The Skeleton of Lateral Meningocele Syndrome.Frontiers in genetics · 2020Review
- Contextual Regulation of Skeletal Physiology by Notch Signaling.Current osteoporosis reports · 2019Review
- Molecular signaling in bone cells: Regulation of cell differentiation and survival.Advances in protein chemistry and structural biology · 2019Review
- Notch in skeletal physiology and disease.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Review
- A Notch in the joint that exacerbates osteoarthritis.Nature reviews. Rheumatology · 2018Article
- Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
backgroundThere are four Notch transmembrane receptors that determine the fate and function of cells. Notch is activated following its interactions with ligands of the Jagged and Delta-like families that lead to the cleavage and release of the Notch intracellular domain (NICD); this translocates to the nucleus to induce the transcription of Notch target genes. Genetic disorders of loss- and gain-of-NOTCH function present with severe clinical manifestations. BASIC PROCEDURES: In this article, current knowledge of Hajdu Cheney Syndrome (HCS) and related disorders is reviewed. MAIN
findingsHCS is a rare genetic disorder characterized by acroosteolysis, fractures, short stature, neurological manifestations, craniofacial developmental abnormalities, cardiovascular defects and polycystic kidneys. HCS is associated with NOTCH2 gain-of-function mutations. An experimental mouse model of the disease revealed that the bone loss is secondary to increased osteoclastogenesis and bone resorption due to enhanced expression of receptor activator of nuclear factor kappa B ligand (Rankl). This would suggest that inhibitors of bone resorption might prove to be beneficial in the treatment of the bone loss associated with HCS. Notch2 is a determinant of B-cell allocation in the marginal zone of the spleen and "somatic" mutations analogous to those found in HCS are associated with B-cell lymphomas of the marginal zone, but there are no reports of lymphomas associated with HCS.
conclusionIn conclusion, HCS is a serious genetic disorder associated with NOTCH2 mutations. New experimental models have offered insight on mechanisms responsible for the manifestations of HCS.
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