Knochenmatrix-protein 2
Das BMP2-Gen kodiert eine Protein, welches eine Bedeutung bei der Regulation des Eisenstoffwechsels zu besitzen scheint, so dass Mutationen die Schwere eine Hämochromatose modifizieren können.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Su P et al. (2011) A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.
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2. |
Johnson RL et al. (1997) Molecular models for vertebrate limb development.
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3. |
Wozney JM et al. (1988) Novel regulators of bone formation: molecular clones and activities.
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4. |
Raspopovic J et al. (2014) Modeling digits. Digit patterning is controlled by a Bmp-Sox9-Wnt Turing network modulated by morphogen gradients.
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5. |
Wang EA et al. (1990) Recombinant human bone morphogenetic protein induces bone formation.
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6. |
Sahoo T et al. (2011) Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
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7. |
Kaplan FS et al. (1990) Fibrodysplasia ossificans progressiva: a clue from the fly?
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8. |
Tabas JA et al. (1991) Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3.
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9. |
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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10. |
Plikus MV et al. (2008) Cyclic dermal BMP signalling regulates stem cell activation during hair regeneration.
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11. |
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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12. |
Kugimiya F et al. (2005) Involvement of endogenous bone morphogenetic protein (BMP) 2 and BMP6 in bone formation.
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13. |
Kléber M et al. (2005) Neural crest stem cell maintenance by combinatorial Wnt and BMP signaling.
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14. |
Rao VV et al. (1992) The gene for bone morphogenetic protein 2A (BMP2A) is localized to human chromosome 20p12 by radioactive and nonradioactive in situ hybridization.
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15. |
Styrkarsdottir U et al. (2003) Linkage of osteoporosis to chromosome 20p12 and association to BMP2.
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16. |
Lories RJ et al. (2003) Bone morphogenetic proteins 2 and 6, expressed in arthritic synovium, are regulated by proinflammatory cytokines and differentially modulate fibroblast-like synoviocyte apoptosis.
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17. |
Cheng H et al. (2003) Osteogenic activity of the fourteen types of human bone morphogenetic proteins (BMPs).
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18. |
Hallahan AR et al. (2003) BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect.
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19. |
Meyer RA et al. (2003) Gene expression in older rats with delayed union of femoral fractures.
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20. |
Waite KA et al. (2003) BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels.
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21. |
White PM et al. (2001) Neural crest stem cells undergo cell-intrinsic developmental changes in sensitivity to instructive differentiation signals.
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22. |
Nakashima K et al. (1999) Synergistic signaling in fetal brain by STAT3-Smad1 complex bridged by p300.
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23. |
Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
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24. |
Freire-Maia N et al. (1980) Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred.
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25. |
Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
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26. |
Orphanet article
Orphanet ID 179459
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27. |
NCBI article
NCBI 650
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28. |
OMIM.ORG article
Omim 112261
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Update: 14. August 2020