Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

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

Krankheiten:

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.

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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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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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17.

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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18.

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

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19.

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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20.

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

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21.

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

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22.

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

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23.

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

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24.

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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25.

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

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26.

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

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27.

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

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28.

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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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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