Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bone morphogenetic protein 2

BMP2 gene encodes a protein that is involves in iron metabolism regulation. Mutation are important modifiers of hemochromatosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemochromatosis 1
BMP2
HFE

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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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.

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8.

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

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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.

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10.

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

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11.

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

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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.

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13.

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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14.

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

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15.

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

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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.

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17.

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

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18.

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

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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.

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20.

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

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21.

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

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22.

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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23.

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

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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.

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

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Update: Sept. 26, 2018