Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblastenwachstumsfaktor 8

Das FGF8-Gen kodiert ein androgen-induzierten Wachstumsfaktor. Mutationen führen zur dominantem oder rezessivem hypogonadotropischem Hypogonadismus mit oder ohne Anosmie.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Hypogonadotropischer Hypogonadismus mit oder ohne Anosmie
FGF8

Referenzen:

1.

Johnson RL et. al. (1997) Molecular models for vertebrate limb development.

[^]
2.

Thomas BL et. al. (2000) Independent regulation of Dlx2 expression in the epithelium and mesenchyme of the first branchial arch.

[^]
3.

Copeland NG et. al. (1993) A genetic linkage map of the mouse: current applications and future prospects.

[^]
4.

Riley BM et. al. (2007) Impaired FGF signaling contributes to cleft lip and palate.

[^]
5.

Jung J et. al. (1999) Initiation of mammalian liver development from endoderm by fibroblast growth factors.

[^]
6.

Falardeau J et. al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

[^]
7.

Neugebauer JM et. al. (2009) FGF signalling during embryo development regulates cilia length in diverse epithelia.

[^]
8.

Tanaka A et. al. (1995) Human androgen-induced growth factor in prostate and breast cancer cells: its molecular cloning and growth properties.

[^]
9.

Mattei MG et. al. (1995) Mouse Fgf7 (fibroblast growth factor 7) and Fgf8 (fibroblast growth factor 8) genes map to chromosomes 2 and 19 respectively.

[^]
10.

Lorenzi MV et. al. (1995) Expression cloning, developmental expression and chromosomal localization of fibroblast growth factor-8.

[^]
11.

White RA et. al. (1995) Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region.

[^]
12.

Gemel J et. al. (1996) Structure and sequence of human FGF8.

[^]
13.

Payson RA et. al. (1996) The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells.

[^]
14.

Ghosh AK et. al. (1996) Molecular cloning and characterization of human FGF8 alternative messenger RNA forms.

[^]
15.

Yoshiura K et. al. (1997) Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes.

[^]
16.

Meyers EN et. al. (1998) An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination.

[^]
17.

Meyers EN et. al. (1999) Differences in left-right axis pathways in mouse and chick: functions of FGF8 and SHH.

[^]
18.

Sun X et. al. (1999) Targeted disruption of Fgf8 causes failure of cell migration in the gastrulating mouse embryo.

[^]
19.

Sun X et. al. (2000) Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development.

[^]
20.

Streit A et. al. (2000) Initiation of neural induction by FGF signalling before gastrulation.

[^]
21.

Moon AM et. al. (2000) Fgf8 is required for outgrowth and patterning of the limbs.

[^]
22.

Lewandoski M et. al. (2000) Fgf8 signalling from the AER is essential for normal limb development.

[^]
23.

Dubrulle J et. al. (2001) FGF signaling controls somite boundary position and regulates segmentation clock control of spatiotemporal Hox gene activation.

[^]
24.

Fukuchi-Shimogori T et. al. (2001) Neocortex patterning by the secreted signaling molecule FGF8.

[^]
25.

Trainor PA et. al. (2002) Role of the isthmus and FGFs in resolving the paradox of neural crest plasticity and prepatterning.

[^]
26.

Zammit C et. al. (2002) Fibroblast growth factor 8 is expressed at higher levels in lactating human breast and in breast cancer.

[^]
27.

Sun X et. al. (2002) Functions of FGF signalling from the apical ectodermal ridge in limb development.

[^]
28.

Dudley AT et. al. (2002) A re-examination of proximodistal patterning during vertebrate limb development.

[^]
29.

Storm EE et. al. (2003) Dosage of Fgf8 determines whether cell survival is positively or negatively regulated in the developing forebrain.

[^]
30.

Gunhaga L et. al. (2003) Specification of dorsal telencephalic character by sequential Wnt and FGF signaling.

[^]
31.

Fukuchi-Shimogori T et. al. (2003) Emx2 patterns the neocortex by regulating FGF positional signaling.

[^]
32.

Dubrulle J et. al. (2004) fgf8 mRNA decay establishes a gradient that couples axial elongation to patterning in the vertebrate embryo.

[^]
33.

Ladher RK et. al. (2005) FGF8 initiates inner ear induction in chick and mouse.

[^]
34.

Martinez-Morales JR et. al. (2005) Differentiation of the vertebrate retina is coordinated by an FGF signaling center.

[^]
35.

Tanaka Y et. al. (2005) FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination.

[^]
36.

Olsen SK et. al. (2006) Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain.

[^]
37.

Mariani FV et. al. (2008) Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning.

[^]
38.

Verheyden JM et. al. (2008) An Fgf/Gremlin inhibitory feedback loop triggers termination of limb bud outgrowth.

[^]
39.

Yu SR et. al. (2009) Fgf8 morphogen gradient forms by a source-sink mechanism with freely diffusing molecules.

[^]
40.

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.

[^]
41.

Arauz RF et. al. (2010) A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

[^]
42.

Nowak M et. al. (2011) Interpretation of the FGF8 morphogen gradient is regulated by endocytic trafficking.

[^]
43.

Naiche LA et. al. (2011) FGF4 and FGF8 comprise the wavefront activity that controls somitogenesis.

[^]
44.

Cooper KL et. al. (2011) Initiation of proximal-distal patterning in the vertebrate limb by signals and growth.

[^]
45.

Roselló-Díez A et. al. (2011) Diffusible signals, not autonomous mechanisms, determine the main proximodistal limb subdivision.

[^]
46.

Boulet AM et. al. (2012) Signaling by FGF4 and FGF8 is required for axial elongation of the mouse embryo.

[^]
47.

Nacu E et. al. (2016) FGF8 and SHH substitute for anterior-posterior tissue interactions to induce limb regeneration.

[^]

 

 
Ihre Nachricht: