Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblastenwachstumsfaktor 10

Das FGF10-Gen kodiert einen Fibroblastenwachstumsfaktor der bei der Entwicklung von Gehirns, Lunge und Extremitäten sowie bei der Wundheilung beteiligt ist. Mutationen führen zu autosomal dominanten Erkrankungen Tränen- und Speicheldrüsenaplasie und Lakrimo-aurikulo-dento-digitales Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research 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:

Tränen- und Speicheldrüsenaplasie
FGF10
Lakrimo-aurikulo-dento-digitales Syndrom
FGF10

Referenzen:

1.

Rohmann E et. al. (2006) Mutations in different components of FGF signaling in LADD syndrome.

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2.

Rice R et. al. (2004) Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate.

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3.

Watanabe Y et. al. (2010) Role of mesodermal FGF8 and FGF10 overlaps in the development of the arterial pole of the heart and pharyngeal arch arteries.

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4.

Emoto H et. al. (1997) Structure and expression of human fibroblast growth factor-10.

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5.

Min H et. al. (1998) Fgf-10 is required for both limb and lung development and exhibits striking functional similarity to Drosophila branchless.

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6.

Sekine K et. al. (1999) Fgf10 is essential for limb and lung formation.

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7.

None (1999) Morphogenesis.

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8.

Suzuki K et. al. (2000) Defective terminal differentiation and hypoplasia of the epidermis in mice lacking the Fgf10 gene.

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9.

Kelly RG et. al. (2001) The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm.

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10.

Bagai S et. al. (2002) Fibroblast growth factor-10 is a mitogen for urothelial cells.

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11.

Sakaue H et. al. (2002) Requirement of fibroblast growth factor 10 in development of white adipose tissue.

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12.

Umemori H et. al. (2004) FGF22 and its close relatives are presynaptic organizing molecules in the mammalian brain.

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13.

Entesarian M et. al. (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

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14.

Milunsky JM et. al. (2006) LADD syndrome is caused by FGF10 mutations.

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15.

Entesarian M et. al. (2007) FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

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16.

Nechiporuk A et. al. (2008) FGF-dependent mechanosensory organ patterning in zebrafish.

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17.

Frenz DA et. al. (2010) Retinoid signaling in inner ear development: A "Goldilocks" phenomenon.

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18.

Klar J et. al. (2011) Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease.

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19.

Gros J et. al. (2014) Vertebrate limb bud formation is initiated by localized epithelial-to-mesenchymal transition.

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