Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblasten-Wachstumsfaktor-Rezeptor 1

Das FGFR1-Gen kodiert einen Fibroblasten-Wachstumsfaktor-Rezeptor, der verschiedene Fibroblasten-Wachstumsfaktoren binden kann. Von besonderer Bedeutung ist der Faktor FGF23 der an proximalen Tubuluszellen zusammen mit Klotho eine Signalkaskade in Gang setzt die für die Steuerung der Phosphathomöostase immens wichtig ist. Aktivierende Mutationen führen zur autosomal dominanten Erkrankung der osteoglophonen Dysplasie. Weitere Erkrankungen, die mit Mutationen dieses Rezeptors in Verbindung gebracht werden sind Pfeiffer-Syndrom, Jackson-Weiss-Syndrom, Antley-Bixler-Syndrom und Kallmann-Syndrom 2.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic 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:

Osteoglophone Dysplasie
FGFR1

Referenzen:

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2.

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39.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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56.

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58.

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59.

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60.

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61.

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62.

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63.

Hanchate NK et. al. (2012) SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

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64.

Miraoui H et. al. (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

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65.

Simonis N et. al. (2013) FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

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66.

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67.

Ding BS et. al. (2014) Divergent angiocrine signals from vascular niche balance liver regeneration and fibrosis.

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