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Center for Nephrology and Metabolic Disorders
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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 Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemochromatosis 1
BMP2
HFE

References:

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 external link
27.

NCBI article

NCBI 650 external link
28.

OMIM.ORG article

Omim 112261 external link
29.

Wikipedia article

Wikipedia EN (Bone_morphogenetic_protein_2) external link
Update: Aug. 14, 2020
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