Endochondral ossification with skeletal dysplasias (WP4808)

Homo sapiens

Authors

Ritchie Lee and Eric Weitz

Activity

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Cited In

• Fish as Model Systems to Study Epigenetic Drivers in Human Self-Domestication and Neurodevelopmental Cognitive Disorders (2022).
• Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood (2022).
• Identification of the effects of COVID-19 on patients with pulmonary fibrosis and lung cancer: a bioinformatics analysis and literature review (2022).

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Organisms

Homo sapiens

Communities

Skeletal Dysplasia

Annotations

Disease Ontology

Crouzon syndrome-acanthosis nigricans syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome polydactyly cleidocranial dysplasia metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome spondyloepimetaphyseal dysplasia, Missouri type Pallister-Hall syndrome Muenke Syndrome metaphyseal dysplasia Eiken syndrome chondrodysplasia Blomstrand type Pfeiffer syndrome achondroplasia osteogenesis imperfecta acrocapitofemoral dysplasia spondylometaepiphyseal dysplasia, short limb-hand type Jansen's metaphyseal chondrodysplasia brachydactyly type A1 Greig cephalopolysyndactyly syndrome Schmid metaphyseal chondrodysplasia osteoglophonic dysplasia hypochondroplasia

Cell Type Ontology

obsolete osteochondroclast osteoclast chondrocyte

Pathway Ontology

regulatory pathway

References

1. Endochondral ossification: how cartilage is converted into bone in the developing skeleton. Mackie EJ, Ahmed YA, Tatarczuch L, Chen KS, Mirams M. Int J Biochem Cell Biol. 2008;40(1):46–62. PubMed Europe PMC Scholia
2. A microarray approach for comparative expression profiling of the discrete maturation zones of mouse growth plate cartilage. Belluoccio D, Bernardo BC, Rowley L, Bateman JF. Biochim Biophys Acta. 2008 May;1779(5):330–40. PubMed Europe PMC Scholia
3. The effect of dexamethasone and triiodothyronine on terminal differentiation of primary bovine chondrocytes and chondrogenically differentiated mesenchymal stem cells. Randau TM, Schildberg FA, Alini M, Wimmer MD, Haddouti EM, Gravius S, et al. PLoS One. 2013 Aug 16;8(8):e72973. PubMed Europe PMC Scholia