Morphogenes Knochenprotein 4
Das BMP4-Gen kodiert eine Hormon, welches an den TGF-bete-Rzeptor binden kann. Dieses Hormon reguliert die Ontogenese des Herzens und besitz auch eine Bedeutung bei der Ausbildung von Fettgewebe. Mutationen führen zur autosomal dominanten syndromischen Microphthalmie 6, die auch mit urogenitalen Fehlbildungen einhergehen kann. Diskretere nur faciale Dysmorphien werden als Lippen-Kiefer-Gaumenspalte 11 bezeichnet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zhu NL et al. (2004) NKX2.1 regulates transcription of the gene for human bone morphogenetic protein-4 in lung epithelial cells.
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2. |
Shore EM et al. (1998) The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation.
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3. |
Tucker AS et al. (1998) Transformation of tooth type induced by inhibition of BMP signaling.
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4. |
Thomas BL et al. (2000) Independent regulation of Dlx2 expression in the epithelium and mesenchyme of the first branchial arch.
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5. |
Dooley CA et al. (2000) Bone morphogenetic protein inhibits ovarian androgen production.
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6. |
Monsoro-Burq A et al. (2001) BMP4 plays a key role in left-right patterning in chick embryos by maintaining Sonic Hedgehog asymmetry.
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7. |
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8. |
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9. |
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11. |
Haramis AP et al. (2004) De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine.
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12. |
Tang QQ et al. (2004) Commitment of C3H10T1/2 pluripotent stem cells to the adipocyte lineage.
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14. |
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15. |
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17. |
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19. |
Wandzioch E et al. (2009) Dynamic signaling network for the specification of embryonic pancreas and liver progenitors.
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20. |
Cejalvo T et al. (2007) Bone morphogenetic protein-2/4 signalling pathway components are expressed in the human thymus and inhibit early T-cell development.
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21. |
Plikus MV et al. (2008) Cyclic dermal BMP signalling regulates stem cell activation during hair regeneration.
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22. |
Dickinson ME et al. (1990) Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci.
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23. |
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24. |
Shafritz AB et al. (1996) Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva.
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25. |
Wordinger RJ et al. (2007) Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma.
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26. |
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27. |
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28. |
Reis LM et al. (2011) BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
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29. |
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30. |
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31. |
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32. |
van den Wijngaard A et al. (1995) Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization.
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33. |
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34. |
None (1996) Fibrodysplasia ossificans progressiva -- lessons from rare maladies.
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35. |
Orphanet article
Orphanet ID 140047
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36. |
NCBI article
NCBI 652
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37. |
OMIM.ORG article
Omim 112262
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Update: 14. August 2020