Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

SERKAL-Syndrom
WNT4
Aplasie des Müllerschen Ganges und Hyperandrogenismus
WNT4

Referenzen:

1.

Guo X et. al. (2004) Wnt/beta-catenin signaling is sufficient and necessary for synovial joint formation.

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2.

Tomizuka K et. al. (2008) R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.

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3.

Chassot AA et. al. (2008) Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.

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4.

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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5.

Stark K et. al. (1994) Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4.

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6.

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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7.

Vainio S et. al. (1999) Female development in mammals is regulated by Wnt-4 signalling.

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8.

Brisken C et. al. (2000) Essential function of Wnt-4 in mammary gland development downstream of progesterone signaling.

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9.

Jordan BK et. al. (2001) Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

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10.

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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11.

Garnis C et. al. (2005) Involvement of multiple developmental genes on chromosome 1p in lung tumorigenesis.

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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.

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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14.

Mandel H et. al. (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

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15.

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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16.

Naillat F et. al. (2010) Wnt4/5a signalling coordinates cell adhesion and entry into meiosis during presumptive ovarian follicle development.

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