Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Protein Wnt-4

Das WNT4-Gen kodiert ein sezerniertes Signalpeptid welches eine bedeutung insbesondere für die Sexualentwicklung hat. Mutationen führen zum autosomal rezessiven SERKAL-Syndrom oder zur dominanten Aplasie des Müllerschen Ganges und Hyperandrogenismus.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

SERKAL-Syndrom
WNT4
Aplasie des Müllerschen Ganges und Hyperandrogenismus
WNT4

Referenzen:

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 external link
18.

OMIM.ORG article

Omim 603490 external link
19.

Orphanet article

Orphanet ID 120540 external link
Update: 14. August 2020
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