Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Syndromische Microphthalmie 6
BMP4
Lippen-Kiefer-Gaumenspalte 11
BMP4

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

Kan L et al. (2004) Transgenic mice overexpressing BMP4 develop a fibrodysplasia ossificans progressiva (FOP)-like phenotype.

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6.

Shafritz AB et al. (1996) Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva.

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7.

Wordinger RJ et al. (2007) Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma.

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8.

Piccirillo SG et al. (2006) Bone morphogenetic proteins inhibit the tumorigenic potential of human brain tumour-initiating cells.

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9.

Bakrania P et al. (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

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10.

Reis LM et al. (2011) BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

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11.

Liu W et al. (2005) Distinct functions for Bmp signaling in lip and palate fusion in mice.

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12.

Suzuki S et al. (2009) Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

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13.

Furuta Y et al. (1998) BMP4 is essential for lens induction in the mouse embryo.

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14.

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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15.

Tabas JA et al. (1993) Chromosomal assignment of the human gene for bone morphogenetic protein 4.

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16.

van den Wijngaard A et al. (1996) Genomic organization of the human bone morphogenetic protein-4 gene: molecular basis for multiple transcripts.

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17.

None (1996) Fibrodysplasia ossificans progressiva -- lessons from rare maladies.

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18.

Shore EM et al. (1998) The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation.

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19.

Tucker AS et al. (1998) Transformation of tooth type induced by inhibition of BMP signaling.

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20.

Thomas BL et al. (2000) Independent regulation of Dlx2 expression in the epithelium and mesenchyme of the first branchial arch.

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21.

Dooley CA et al. (2000) Bone morphogenetic protein inhibits ovarian androgen production.

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22.

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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23.

Chen Y et al. (2002) In vivo new bone formation by direct transfer of adenoviral-mediated bone morphogenetic protein-4 gene.

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24.

Paez-Pereda M et al. (2003) Involvement of bone morphogenetic protein 4 (BMP-4) in pituitary prolactinoma pathogenesis through a Smad/estrogen receptor crosstalk.

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25.

Jiao K et al. (2003) An essential role of Bmp4 in the atrioventricular septation of the mouse heart.

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26.

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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27.

Haramis AP et al. (2004) De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine.

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28.

Tang QQ et al. (2004) Commitment of C3H10T1/2 pluripotent stem cells to the adipocyte lineage.

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29.

Bowers RR et al. (2006) Stable stem cell commitment to the adipocyte lineage by inhibition of DNA methylation: role of the BMP-4 gene.

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30.

Fuller ML et al. (2007) Bone morphogenetic proteins promote gliosis in demyelinating spinal cord lesions.

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31.

Wang X et al. (2008) Type IV collagens regulate BMP signalling in Drosophila.

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32.

Bénazet JD et al. (2009) A self-regulatory system of interlinked signaling feedback loops controls mouse limb patterning.

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33.

Wandzioch E et al. (2009) Dynamic signaling network for the specification of embryonic pancreas and liver progenitors.

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34.

Goldman DC et al. (2009) BMP4 regulates the hematopoietic stem cell niche.

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35.

Orphanet article

Orphanet ID 140047 [^]
36.

NCBI article

NCBI 652 [^]
37.

OMIM.ORG article

Omim 112262 [^]
Update: 9. Mai 2019