Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The WNT4 encodes a secreted signal peptide which in particular is involved in sexual development. Mutations cause autosomal recessive SERKAL syndrome or dominant Müllerian aplasia and hyperandrogenism.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Tomizuka K et al. (2008) R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling. 
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| 2. |
Naillat F et al. (2010) Wnt4/5a signalling coordinates cell adhesion and entry into meiosis during presumptive ovarian follicle development.
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| 3. |
Ottolenghi C et al. (2007) Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
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| 4. |
Garnis C et al. (2005) Involvement of multiple developmental genes on chromosome 1p in lung tumorigenesis.
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| 5. |
Jordan BK et al. (2001) Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.
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| 6. |
Brisken C et al. (2000) Essential function of Wnt-4 in mammary gland development downstream of progesterone signaling.
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| 7. |
Huguet EL et al. (1994) Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue.
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| 8. |
Stark K et al. (1994) Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4.
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| 9. |
Mandel H et al. (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
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| 10. |
Vainio S et al. (1999) Female development in mammals is regulated by Wnt-4 signalling.
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| 11. |
Philibert P et al. (2008) Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.
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| 12. |
Biason-Lauber A et al. (2007) WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.
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| 13. |
Biason-Lauber A et al. (2004) A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.
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| 14. |
Gavin BJ et al. (1990) Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.
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| 15. |
Chassot AA et al. (2008) Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.
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| 16. |
Guo X et al. (2004) Wnt/beta-catenin signaling is sufficient and necessary for synovial joint formation.
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| 17. |
NCBI article NCBI 54361
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| 18. |
OMIM.ORG article Omim 603490
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| 19. |
Orphanet article Orphanet ID 120540
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| 20. |
Wikipedia article Wikipedia EN (WNT4)
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