Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Malformationen der Rechts-Links-Achse

Malformationen der Rechts-Links-Achse finden sich bei dominanten Mutationen des LEFTY2-Gens.

Gliederung

Ziliopathie
COACH-Syndrom
Joubert-Syndrom
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
LEFTY2
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
Senior-Loken-Syndrom

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.

[^]
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.

[^]
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.

[^]
5.

Meno C et. al. (1999) Mouse Lefty2 and zebrafish antivin are feedback inhibitors of nodal signaling during vertebrate gastrulation.

[^]
6.

Burdine RD et. al. (2000) Conserved and divergent mechanisms in left-right axis formation.

[^]
7.

Tabibzadeh S et. al. (2000) Dysregulated expression of ebaf, a novel molecular defect in the endometria of patients with infertility.

[^]
8.

Meno C et. al. (2001) Diffusion of nodal signaling activity in the absence of the feedback inhibitor Lefty2.

[^]