Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hämochromatose 1
BMP2
HFE

Referenzen:

1.

Nakashima K et al. (1999) Synergistic signaling in fetal brain by STAT3-Smad1 complex bridged by p300.

[^]
2.

White PM et al. (2001) Neural crest stem cells undergo cell-intrinsic developmental changes in sensitivity to instructive differentiation signals.

[^]
3.

Waite KA et al. (2003) BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels.

[^]
4.

Meyer RA et al. (2003) Gene expression in older rats with delayed union of femoral fractures.

[^]
5.

Hallahan AR et al. (2003) BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect.

[^]
6.

Cheng H et al. (2003) Osteogenic activity of the fourteen types of human bone morphogenetic proteins (BMPs).

[^]
7.

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.

[^]
8.

Styrkarsdottir U et al. (2003) Linkage of osteoporosis to chromosome 20p12 and association to BMP2.

[^]
9.

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.

[^]
10.

Kléber M et. al. (2005) Neural crest stem cell maintenance by combinatorial Wnt and BMP signaling.

[^]
11.

Kugimiya F et al. (2005) Involvement of endogenous bone morphogenetic protein (BMP) 2 and BMP6 in bone formation.

[^]
12.

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.

[^]
13.

Milet J et. al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

[^]
14.

Plikus MV et al. (2008) Cyclic dermal BMP signalling regulates stem cell activation during hair regeneration.

[^]
15.

Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

[^]
16.

Dickinson ME et al. (1990) Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci.

[^]
17.

Tabas JA et al. (1991) Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3.

[^]
18.

Kaplan FS et al. (1990) Fibrodysplasia ossificans progressiva: a clue from the fly?

[^]
19.

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.

[^]
20.

Sahoo T et al. (2011) Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.

[^]
21.

Wang EA et al. (1990) Recombinant human bone morphogenetic protein induces bone formation.

[^]
22.

Raspopovic J et al. (2014) Modeling digits. Digit patterning is controlled by a Bmp-Sox9-Wnt Turing network modulated by morphogen gradients.

[^]
23.

Wozney JM et al. (1988) Novel regulators of bone formation: molecular clones and activities.

[^]
24.

Freire-Maia N et al. (1980) Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred.

[^]
25.

Johnson RL et al. (1997) Molecular models for vertebrate limb development.

[^]

 

 
Ihre Nachricht: