Recht-Links-Determinationsfaktor 2
Das LEFTY2-Gen kodiert einen Liganden für das TGF-beta. Es besitzt eine besondere Bedeutung für die Rechts-Links-Asymetrie insbesondere von Lunge und Herz. Mutatonen können zu Situs inversus und ähnlichen Fehlbildungen führen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Meno C et al. (1996) Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos.
|
2. |
Kothapalli R et al. (1997) Detection of ebaf, a novel human gene of the transforming growth factor beta superfamily association of gene expression with endometrial bleeding.
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3. |
Meno C et al. (1997) Two closely-related left-right asymmetrically expressed genes, lefty-1 and lefty-2: their distinct expression domains, chromosomal linkage and direct neuralizing activity in Xenopus embryos.
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4. |
Kosaki K et al. (1999) Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.
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5. |
Meno C et al. (1999) Mouse Lefty2 and zebrafish antivin are feedback inhibitors of nodal signaling during vertebrate gastrulation.
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6. |
Burdine RD et al. (2000) Conserved and divergent mechanisms in left-right axis formation.
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7. |
Tabibzadeh S et al. (2000) Dysregulated expression of ebaf, a novel molecular defect in the endometria of patients with infertility.
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8. |
Meno C et al. (2001) Diffusion of nodal signaling activity in the absence of the feedback inhibitor Lefty2.
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9. |
OMIM.ORG article
Omim 601877
|
10. |
Orphanet article
Orphanet ID 168165
|
11. |
NCBI article
NCBI 7044
|
Update: 14. August 2020