Endochondral ossification with skeletal dysplasias (WP4808)
Homo sapiens
Taken from existing Endochondral Ossification pathway Added diseases linked with a dotted arrow to GeneProduct nodes, dotted arrow indicates what diseases are caused by mutation in the respective genes.
Authors
Ritchie Lee , Eric Weitz , and Kristina HanspersActivity
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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 sapiensCommunities
Skeletal DysplasiaAnnotations
Disease Ontology
Schmid metaphyseal chondrodysplasia brachydactyly type A1 Eiken syndrome polydactyly metaphyseal dysplasia Pallister-Hall syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome Muenke Syndrome spondylometaepiphyseal dysplasia, short limb-hand type hypochondroplasia osteogenesis imperfecta Jansen's metaphyseal chondrodysplasia achondroplasia cleidocranial dysplasia metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Greig cephalopolysyndactyly syndrome Pfeiffer syndrome acrocapitofemoral dysplasia Crouzon syndrome-acanthosis nigricans syndrome chondrodysplasia Blomstrand type osteoglophonic dysplasia spondyloepimetaphyseal dysplasia, Missouri typeCell Type Ontology
osteoclast chondrocyte obsolete osteochondroclastPathway Ontology
regulatory pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
Oxygen | Metabolite | hmdb:HMDB0001377 | |
Triiodothyronine | Metabolite | chebi:24864 | |
Thyroid hormone | Metabolite | chebi:60311 | |
cAMP | Metabolite | hmdb:HMDB0000058 | |
AKP2 | GeneProduct | ncbigene:249 | |
Osteopontin | GeneProduct | ncbigene:6696 | |
FGFR3 | GeneProduct | ncbigene:2261 | |
MMP13 | GeneProduct | ncbigene:4322 | |
Aggrecan | GeneProduct | ncbigene:176 | |
BMPR1A | GeneProduct | ncbigene:657 | |
IHH | GeneProduct | ncbigene:3549 | |
FGFR1 | GeneProduct | ncbigene:2260 | |
IGF2 | GeneProduct | ncbigene:3481 | |
BMP6 | GeneProduct | ncbigene:654 | |
IGF1 | GeneProduct | ncbigene:3479 | |
SLC38A2 | GeneProduct | ncbigene:54407 | |
TGFBI | GeneProduct | ncbigene:7040 | |
CAB39 | GeneProduct | ncbigene:51719 | |
MEF2C | GeneProduct | ncbigene:4208 | |
COL2A1 | GeneProduct | ncbigene:1280 | |
ADAMTS5 | GeneProduct | ncbigene:11096 | |
RUNX3 | GeneProduct | ncbigene:864 | |
PTH | GeneProduct | ncbigene:5741 | |
FGF18 | GeneProduct | ncbigene:8817 | |
CALM1 | GeneProduct | ncbigene:801 | |
Adseverin | GeneProduct | ncbigene:85477 | PMID: 17097081 |
RUNX2 | GeneProduct | ncbigene:860 | |
FGF2 | GeneProduct | ncbigene:2247 | |
SOX6 | GeneProduct | ncbigene:55553 | |
PTCH | GeneProduct | ncbigene:5727 | |
NPP1 | GeneProduct | ncbigene:5167 | |
PKA | GeneProduct | ncbigene:5566 | |
KIF3A | GeneProduct | ncbigene:11127 | |
PTCH1 | GeneProduct | ncbigene:5727 | |
TNAP | GeneProduct | ncbigene:445341 | |
C4ST1 | GeneProduct | ncbigene:50515 | |
Cathepsin L2 | GeneProduct | ncbigene:1515 | Taken as homologue to mouse Cathepsin L (Ctsl) |
TGFB2 | GeneProduct | ncbigene:7042 | |
AKT | GeneProduct | ncbigene:207 | |
Growth hormone | GeneProduct | ncbigene:2688 | |
GLI3 | GeneProduct | ncbigene:2737 | |
HMGCS1 | GeneProduct | ncbigene:3157 | |
VEGFA | GeneProduct | ncbigene:7422 | |
MMP9 | GeneProduct | ncbigene:4318 | |
SERPINH1 | GeneProduct | ncbigene:871 | |
BMP7 | GeneProduct | ncbigene:655 | |
CDKN1C | GeneProduct | ncbigene:1028 | |
Sox9 | GeneProduct | ncbigene:6662 | |
THRA | GeneProduct | ncbigene:7067 | |
STAT1 | GeneProduct | ncbigene:6772 | |
ADAMTS1 | GeneProduct | ncbigene:9510 | |
GH receptor | GeneProduct | ncbigene:2690 | |
PLAU | GeneProduct | ncbigene:5328 | |
MGP | GeneProduct | ncbigene:4256 | |
STAT5 | GeneProduct | ncbigene:6777 | |
COL10A1 | GeneProduct | ncbigene:1300 | |
ADAMTS4 | GeneProduct | ncbigene:9507 | |
TGFB1 | GeneProduct | ncbigene:7040 | |
IGF1R | GeneProduct | ncbigene:3480 | |
TG737 | GeneProduct | ncbigene:8100 | |
DDR2 | GeneProduct | ncbigene:4921 | |
Bapx1 | GeneProduct | ncbigene:579 | |
Carminerin | GeneProduct | ncbigene:1473 | Taken as human homologue of mouse Cst10PMID: 13679380 |
FrzB-1 | GeneProduct | ncbigene:2487 | |
PLAT | GeneProduct | ncbigene:5327 | |
HDAC4 | GeneProduct | ncbigene:9759 | |
PTHrP | GeneProduct | ncbigene:5744 | |
PTHR1 | GeneProduct | ncbigene:5745 | |
SOX5 | GeneProduct | ncbigene:6660 | |
TIMP3 | GeneProduct | ncbigene:7078 |
References
- 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
- 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
- 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