Osteoblast differentiation and related diseases (Homo sapiens)

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1-3Deletion of beta-catenin geneMesenchymal progenitor/Mesenchymal stem cellEndochondral ossificationDeletion of OSXSOX9+ cells arebipontentialSMOCTNNB1JAG2SMAD1IHHGLI2LRP5NOTCH1STAT1RBPJDLL1LRP6HEY1FGFR1BMPR1AGeneProductHES2PTCH1GLI3JAG1HES3BMP4GeneProductPRKCDMYOD1BMP2Osteo-chondro progenitorPreosteoblastChondroblastPerichondral cellChondrocyteHypertrophic chondrocyteOsteoblastIntramembranousSOX9+RUNX2+RUNX2+OSX+DLL3DLL4NOTCH2NOTCH3NOTCH4HES6HEY2BMPR1BBMPR2SMAD5SMAD9SMAD1PSMAD5PPPSMAD9SMAD4PPSMAD1PPSMAD4SMAD4SMAD5PPSMAD9PPFGFR3FGFR2FGFR4OsteoblastAdipogenic lineageMyogenic lineagePPARGRUNX2SOX9OsteocyteCalvarian bones, claviclesAxial skeleton, extremitiesFZD9FZD6FZD7FZD4FZD1FZD8FZD10FZD2FZD3FZD5FZD9FZD6FZD7FZD4FZD1FZD8FZD10FZD2FZD3FZD5WNT16WNT3AWNT7AWNT10BWNT6WNT9BWNT11WNT7BWNT10AWNT2BWNT5BWNT8AWNT1WNT5AWNT9AWNT3WNT4WNT2WNT8BPRKCIPRKDCPIK3C2APIK3R6PRKCEPIK3R3PIK3R4PIK3R5PRKCHPRKCGPIK3C3PRKCZPIK3CBPIK3CAPRKCAPRKCBPRKCDPIK3CDPRKCQPIK3C2BPIK3C2GPIK3CGPIK3R2PRKD1PIK3R1OMIM:101600Pfeiffer SyndromeOMIM:164745Omodysplasia 2OMIM:612247Crouzon Syndrome With Acanthosis NigricansOMIM:146510Pallister-Hall SyndromeOMIM:114290Campomelic DysplasiaOMIM:101200Apert SyndromeOMIM:616482Achondroplasia, Severe, With Developmental Delay And Acanthosis NigricansOMIM:156510Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without BrachydactylyOMIM:609441Acromesomelic Dysplasia, Demirhan TypeOMIM:149730Lacrimoauriculodentodigital SyndromeOMIM:616028Adams-Oliver Syndrome 5OMIM:102500Hajdu-Cheney SyndromeOMIM:273395Tetraamelia Syndrome 1OMIM:139210Myhre SyndromeOMIM:123790Beare-Stevenson Cutis Gyrata SyndromeOMIM:612918Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal NeviOMIM:174700Polydactyly, Preaxial IvOMIM:614814Adams-Oliver Syndrome 3OMIM:166710OsteoporosisOMIM:175700Greig Cephalopolysyndactyly SyndromeOMIM:187600Thanatophoric Dysplasia, Type IOMIM:123500Crouzon SyndromeOMIM:228930Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And OligodactylyOMIM:180700Robinow Syndrome, Autosomal Dominant 1OMIM:607778Acrocapitofemoral DysplasiaOMIM:144750Endosteal Hyperostosis, Autosomal DominantOMIM:277300Spondylocostal Dysostosis 1, Autosomal RecessiveOMIM:146000HypochondroplasiaOMIM:185900Chromosome 2q35 Duplication SyndromeOMIM:101600Pfeiffer SyndromeOMIM:614592Bent Bone Dysplasia SyndromeOMIM:112500Brachydactyly, Type A1OMIM:602849Muenke SyndromeOMIM:166250Osteoglophonic DysplasiaOMIM:100800AchondroplasiaOMIM:119600Cleidocranial DysplasiaOMIM:102510Acropectorovertebral DysplasiaOMIM:276820Ulna And Fibula, Absence Of, With Severe Limb DeficiencyOMIM:615220Osteogenesis Imperfecta, Type XVOMIM:112600Brachydactyly, Type A2OMIM:225300Split-Hand/foot Malformation 6OMIM:112600Brachydactyly, Type A2OMIM:164745Omodysplasia 2OMIM:616589Adams-Oliver Syndrome 6OMIM:610474Camptodactyly, Tall Stature, And Hearing Loss SyndromeOMIM:259770Osteoporosis-Pseudoglioma SyndromeOMIM:187601Thanatophoric Dysplasia, Type IIOMIM:615465Hartsfield SyndromeFGF1FGF10FGF6FGF2FGF4FGF3FGF7FGF8FGF9FGF5FGF18OMIM:612961Multiple Synostoses Syndrome 3MAPK9MAPK3MAPK13MAPK6MAPK10MAPK4MAPK1MAPK8MAPK11MAPK12MAPK7MAPK14WNT16WNT3AWNT7AWNT10BWNT6WNT9BWNT11WNT7BWNT10AWNT2BWNT5BWNT8AWNT1WNT5AWNT9AWNT3WNT4WNT2WNT8BOMIM:273395Tetraamelia Syndrome 1OMIM:228930Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And OligodactylyOMIM:180700Robinow Syndrome, Autosomal Dominant 1OMIM:102510Acropectorovertebral DysplasiaOMIM:276820Ulna And Fibula, Absence Of, With Severe Limb DeficiencyOMIM:615220Osteogenesis Imperfecta, Type XVOMIM:225300Split-Hand/foot Malformation 6


Description

No description

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Quality Tags

Ontology Terms

 

Bibliography

  1. Long F, Ornitz DM; ''Development of the endochondral skeleton.''; Cold Spring Harb Perspect Biol, 2013 PubMed Europe PMC Scholia
  2. Long F; ''Building strong bones: molecular regulation of the osteoblast lineage.''; Nat Rev Mol Cell Biol, 2011 PubMed Europe PMC Scholia
  3. Hornbeck PV, Zhang B, Murray B, Kornhauser JM, Latham V, Skrzypek E; ''PhosphoSitePlus, 2014: mutations, PTMs and recalibrations.''; Nucleic Acids Res, 2015 PubMed Europe PMC Scholia
  4. Rutkovskiy A, Stensløkken KO, Vaage IJ; ''Osteoblast Differentiation at a Glance.''; Med Sci Monit Basic Res, 2016 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
135101view23:03, 5 August 2024EweitzOntology Term : 'split hand-foot malformation 6' added !
135100view23:02, 5 August 2024EweitzOntology Term : 'spondylocostal dysostosis 1' added !
135099view22:52, 5 August 2024EweitzOntology Term : 'osteogenesis imperfecta' added !
135098view22:51, 5 August 2024EweitzOntology Term : 'autosomal dominant Robinow syndrome 1' added !
135097view22:51, 5 August 2024EweitzOntology Term : 'Robinow syndrome' added !
135096view22:50, 5 August 2024EweitzOntology Term : 'syndactyly type 1' added !
135095view22:47, 5 August 2024EweitzOntology Term : 'acrocapitofemoral dysplasia' added !
135094view22:47, 5 August 2024EweitzOntology Term : 'campomelic dysplasia' added !
135093view22:46, 5 August 2024EweitzOntology Term : 'brachydactyly type A1' added !
135092view22:45, 5 August 2024EweitzOntology Term : 'brachydactyly' added !
135091view22:45, 5 August 2024EweitzOntology Term : 'polydactyly' added !
135090view22:44, 5 August 2024EweitzOntology Term : 'Pallister-Hall syndrome' added !
135089view22:43, 5 August 2024EweitzOntology Term : 'cleidocranial dysplasia' added !
135088view22:42, 5 August 2024EweitzOntology Term : 'chondrocyte' added !
135087view22:42, 5 August 2024EweitzOntology Term : 'osteocyte' added !
135086view22:39, 5 August 2024EweitzStandardize case
135085view22:37, 5 August 2024EweitzStandardize case
135084view22:34, 5 August 2024EweitzStandardize case
135083view22:05, 5 August 2024EweitzStandardize case
135082view22:01, 5 August 2024EweitzStandardize case
135081view21:51, 5 August 2024EweitzFix typo: "bipontential" -> "bipotential"
135080view21:49, 5 August 2024EweitzFix placement relative to membrane
135079view21:47, 5 August 2024EweitzEconomize layout, align nodes
135078view21:41, 5 August 2024EweitzFix anchoring
135077view21:39, 5 August 2024EweitzEconomize layout
135074view01:42, 3 August 2024EweitzEconomize layout
135073view01:20, 3 August 2024EweitzEconomize layout
135072view23:14, 2 August 2024EweitzEconomize layout
135071view22:54, 2 August 2024EweitzEconomize layout
135070view22:48, 2 August 2024EweitzTailor height for disease nodes
135069view22:27, 2 August 2024EweitzOmit identifiers in labels; they are present in link and decrease visual accessibility
135068view22:18, 2 August 2024EweitzEconomize layout
135067view22:06, 2 August 2024EweitzEconomize layout
135066view22:03, 2 August 2024EweitzEconomize layout
135065view22:00, 2 August 2024EweitzEconomize layout
127271view23:54, 31 August 2023Khanspersfixed phospho sites
118872view11:58, 3 June 2021EweitzOntology Term : 'bone disease pathway' added !
118871view11:55, 3 June 2021EweitzOntology Term : 'bone disease' added !
118870view11:55, 3 June 2021EweitzOntology Term : 'DOID:2736' removed !
118869view11:54, 3 June 2021EweitzOntology Term : 'Hajdu-Cheney syndrome' added !
118868view11:53, 3 June 2021EweitzOntology Term : 'Adams-Oliver syndrome' added !
118867view11:51, 3 June 2021EweitzModified title
118860view21:35, 2 June 2021EweitzOntology Term : 'osteoblast' added !
112157view18:04, 29 September 2020Khanspersfixed ptm states, removed extraneous empty gene
111734view17:22, 3 September 2020KhanspersOntology Term : 'Hedgehog signaling pathway' added !
111733view17:21, 3 September 2020KhanspersOntology Term : 'fibroblast growth factor signaling pathway' added !
111732view17:21, 3 September 2020KhanspersOntology Term : 'Wnt signaling pathway' added !
111731view17:20, 3 September 2020KhanspersOntology Term : 'osteoblast' added !
110652view10:20, 25 May 2020RleeFixed an unconnected line.
108819view05:10, 31 January 2020RleeModified description

External references

DataNodes

View all...
NameTypeDatabase referenceComment
BMP2GeneProductENSG00000125845 (Ensembl)
BMP4GeneProductENSG00000125378 (Ensembl)
BMPR1AGeneProductENSG00000107779 (Ensembl)
BMPR1BGeneProductENSG00000138696 (Ensembl)
BMPR2GeneProductENSG00000204217 (Ensembl)
CTNNB1GeneProductENSG00000168036 (Ensembl)
DLL1GeneProductENSG00000198719 (Ensembl)
DLL3GeneProductENSG00000090932 (Ensembl)
DLL4GeneProductENSG00000128917 (Ensembl)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF18GeneProductENSG00000156427 (Ensembl)
FGF1GeneProductENSG00000113578 (Ensembl)
FGF2GeneProductENSG00000138685 (Ensembl)
FGF3GeneProductENSG00000186895 (Ensembl)
FGF4GeneProductENSG00000075388 (Ensembl)
FGF5GeneProductENSG00000138675 (Ensembl)
FGF6GeneProductENSG00000111241 (Ensembl)
FGF7GeneProductENSG00000140285 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGF9GeneProductENSG00000102678 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FGFR3GeneProductENSG00000068078 (Ensembl)
FGFR4GeneProductENSG00000160867 (Ensembl)
FZD10GeneProductENSG00000111432 (Ensembl)
FZD1GeneProductENSG00000157240 (Ensembl)
FZD2GeneProductENSG00000180340 (Ensembl)
FZD3GeneProductENSG00000104290 (Ensembl)
FZD4GeneProductENSG00000174804 (Ensembl)
FZD5GeneProductENSG00000163251 (Ensembl)
FZD6GeneProductENSG00000164930 (Ensembl)
FZD7GeneProductENSG00000155760 (Ensembl)
FZD8GeneProductENSG00000177283 (Ensembl)
FZD9GeneProductENSG00000188763 (Ensembl)
GLI2GeneProductENSG00000074047 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
GeneProductGeneProduct
HES2GeneProductENSG00000069812 (Ensembl)
HES3GeneProductENSG00000173673 (Ensembl)
HES6GeneProductENSG00000144485 (Ensembl)
HEY1GeneProductENSG00000164683 (Ensembl)
HEY2GeneProductENSG00000135547 (Ensembl)
IHHGeneProductENSG00000163501 (Ensembl)
JAG1GeneProductENSG00000101384 (Ensembl)
JAG2GeneProductENSG00000184916 (Ensembl)
LRP5GeneProductENSG00000162337 (Ensembl)
LRP6GeneProductENSG00000070018 (Ensembl)
MAPK10GeneProductENSG00000109339 (Ensembl)
MAPK11GeneProductENSG00000185386 (Ensembl)
MAPK12GeneProductENSG00000188130 (Ensembl)
MAPK13GeneProductENSG00000156711 (Ensembl)
MAPK14GeneProductENSG00000112062 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MAPK4GeneProductENSG00000141639 (Ensembl)
MAPK6GeneProductENSG00000069956 (Ensembl)
MAPK7GeneProductENSG00000166484 (Ensembl)
MAPK8GeneProductENSG00000107643 (Ensembl)
MAPK9GeneProductENSG00000050748 (Ensembl)
MYOD1GeneProductENSG00000129152 (Ensembl)
NOTCH1GeneProductENSG00000148400 (Ensembl)
NOTCH2GeneProductENSG00000134250 (Ensembl)
NOTCH3GeneProductENSG00000074181 (Ensembl)
NOTCH4GeneProductENSG00000204301 (Ensembl)
PIK3C2AGeneProductENSG00000011405 (Ensembl)
PIK3C2BGeneProductENSG00000133056 (Ensembl)
PIK3C2GGeneProductENSG00000139144 (Ensembl)
PIK3C3GeneProductENSG00000078142 (Ensembl)
PIK3CAGeneProductENSG00000121879 (Ensembl)
PIK3CBGeneProductENSG00000051382 (Ensembl)
PIK3CDGeneProductENSG00000171608 (Ensembl)
PIK3CGGeneProductENSG00000105851 (Ensembl)
PIK3R1GeneProductENSG00000145675 (Ensembl)
PIK3R2GeneProductENSG00000105647 (Ensembl)
PIK3R3GeneProductENSG00000117461 (Ensembl)
PIK3R4GeneProductENSG00000196455 (Ensembl)
PIK3R5GeneProductENSG00000141506 (Ensembl)
PIK3R6GeneProductENSG00000276231 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PRKCAGeneProductENSG00000154229 (Ensembl)
PRKCBGeneProductENSG00000166501 (Ensembl)
PRKCDGeneProductENSG00000163932 (Ensembl)
PRKCEGeneProductENSG00000171132 (Ensembl)
PRKCGGeneProductENSG00000126583 (Ensembl)
PRKCHGeneProductENSG00000027075 (Ensembl)
PRKCIGeneProductENSG00000163558 (Ensembl)
PRKCQGeneProductENSG00000065675 (Ensembl)
PRKCZGeneProductENSG00000067606 (Ensembl)
PRKD1GeneProductENSG00000184304 (Ensembl)
PRKDCGeneProductENSG00000253729 (Ensembl)
PTCH1GeneProductENSG00000185920 (Ensembl)
RBPJGeneProductENSG00000168214 (Ensembl)
RUNX2GeneProductENSG00000124813 (Ensembl)
SMAD1GeneProductENSG00000170365 (Ensembl)
SMAD4GeneProductENSG00000141646 (Ensembl)
SMAD5GeneProductENSG00000113658 (Ensembl)
SMAD9GeneProductENSG00000120693 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SOX9GeneProductENSG00000125398 (Ensembl)
STAT1GeneProductENSG00000115415 (Ensembl)
WNT10AGeneProductENSG00000135925 (Ensembl)
WNT10BGeneProductENSG00000169884 (Ensembl)
WNT11GeneProductENSG00000085741 (Ensembl)
WNT16GeneProductENSG00000002745 (Ensembl)
WNT1GeneProductENSG00000125084 (Ensembl)
WNT2BGeneProductENSG00000134245 (Ensembl)
WNT2GeneProductENSG00000105989 (Ensembl)
WNT3AGeneProductENSG00000154342 (Ensembl)
WNT3GeneProductENSG00000108379 (Ensembl)
WNT4GeneProductENSG00000162552 (Ensembl)
WNT5AGeneProductENSG00000114251 (Ensembl)
WNT5BGeneProductENSG00000111186 (Ensembl)
WNT6GeneProductENSG00000115596 (Ensembl)
WNT7AGeneProductENSG00000154764 (Ensembl)
WNT7BGeneProductENSG00000188064 (Ensembl)
WNT8AGeneProductENSG00000061492 (Ensembl)
WNT8BGeneProductENSG00000075290 (Ensembl)
WNT9AGeneProductENSG00000143816 (Ensembl)
WNT9BGeneProductENSG00000158955 (Ensembl)

Annotated Interactions

No annotated interactions

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