Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

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

Krankheiten:

Fibrodysplasia ossificans progressiva
ACVR1

Referenzen:

1.

Virdi AS et al. (1999) Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.

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2.

Mathews LS et al. (1991) Expression cloning of an activin receptor, a predicted transmembrane serine kinase.

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3.

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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4.

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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5.

Kaplan FS et al. (2007) Hematopoietic stem-cell contribution to ectopic skeletogenesis.

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6.

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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7.

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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8.

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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9.

Yu PB et al. (2008) BMP type I receptor inhibition reduces heterotopic [corrected] ossification.

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10.

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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11.

Petrie KA et al. (2009) Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

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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.

Frame B et al. (1972) Polyostotic fibrous dysplasia and myositis ossificans progressiva. A report of coexistence.

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14.

Smith R et al. (1976) Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment.

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15.

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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16.

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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17.

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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18.

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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