Activinrezeptor 1
Das Gen kodiert einen membranständiges Protein, min einer wichtigen Funktion in der Signalkaskade während der Zelldifferenzierung. So führen Mutationen des Gens zu der autosomal dominanten Erkrankung Fibrodysplasia ossificans progressiva.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lin GT et al. (2006) De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.
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2. |
Röijer E et al. (1998) Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors.
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3. |
ten Dijke P et al. (1993) Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
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4. |
Matsuzaki K et al. (1993) A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor.
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5. |
Attisano L et al. (1993) Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.
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6. |
Frame B et al. (1972) Polyostotic fibrous dysplasia and myositis ossificans progressiva. A report of coexistence.
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7. |
Yu PB et al. (2008) BMP type I receptor inhibition reduces heterotopic [corrected] ossification.
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8. |
Kaplan FS et al. (2007) Hematopoietic stem-cell contribution to ectopic skeletogenesis.
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9. |
Mathews LS et al. (1991) Expression cloning of an activin receptor, a predicted transmembrane serine kinase.
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10. |
Virdi AS et al. (1999) Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.
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11. |
Smith R et al. (1976) Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment.
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12. |
Barnett CP et al. (2011) Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.
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13. |
Petrie KA et al. (2009) Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
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14. |
Kaplan FS et al. (2009) Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
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15. |
Bocciardi R et al. (2009) Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.
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16. |
Furuya H et al. (2008) A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).
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17. |
Nakajima M et al. (2007) The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
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18. |
Shore EM et al. (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
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19. |
NCBI article
NCBI 90
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20. |
OMIM.ORG article
Omim 102576
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21. |
Orphanet article
Orphanet ID 117759
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Update: 14. August 2020