The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman
Open accessAbstract
WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess--a phenotype resembling the Mayer-Rokitansky-Küster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice. A genetic evaluation revealed a loss-of-function mutation in the WNT4 gene. WNT4 appears to be important in the development and maintenance of the female phenotype in women, by means of the regulation of müllerian-duct formation and control of ovarian steroidogenesis.
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Citations
Cites
Wnt proteins are lipid-modified and can act as stem cell growth factors
Willert, K., Brown, J. D., Danenberg, E., Duncan, A. W., Weissman, I. L., Reya, T., Yates, J. R., & Nusse, R. (2003) · Nature · doi:10.1038/nature01611 · Cited by 2,257
Female development in mammals is regulated by Wnt-4 signalling
Vainio, S., Heikkilä, M., Kispert, A., Chin, N., & McMahon, A. P. (1999) · Nature · doi:10.1038/17068 · Cited by 1,271
Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4
Stark, K., Vainio, S., Vassileva, G., & McMahon, A. P. (1994) · Nature · doi:10.1038/372679a0 · Cited by 1,071
Hamilton, T. C., Young, R. C., McKoy, W. M., Grotzinger, K. R., Green, J. A., Chu, E. W., Whang‐Peng, J., Rogan, A. M., Green, W. R., & Ozols, R. F. (1983) · PubMed · Cited by 539
Essential function of Wnt-4 in mammary gland development downstream of progesterone signaling
Brisken, C., Heineman, A., Chavarria, T., Elenbaas, B., Tan, J., Dey, S. K., McMahon, J. A., McMahon, A. P., & Weinberg, R. A. (2000) · Genes & Development · doi:10.1101/gad.14.6.650 · Cited by 489
Sex Determination and Differentiation
MacLaughlin, D. T., & Donahoe, P. K. (2004) · New England Journal of Medicine · doi:10.1056/nejmra022784 · Cited by 454
Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans
Jordan, B. K., Mohammed, M., Ching, S. T., Délot, E., Chen, X.-N., Dewing, P., Swain, A., Rao, P. N., Elejalde, B. R., & Vilain, E. (2001) · The American Journal of Human Genetics · doi:10.1086/320125 · Cited by 374
Lindner, T. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.11.2001 · Cited by 367
Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad
Jeays-Ward, K., Hoyle, C., Brennan, J., Dandonneau, M., Alldus, G., Capel, B., & Swain, A. (2003) · Development · doi:10.1242/dev.00591 · Cited by 346
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Cited by
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
MacDonald, B. T., Tamai, K., & He, X. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.06.016 · Cited by 5,583
Wnt/β-catenin signaling and disease
Clevers, H., & Nusse, R. (2012) · Cell · doi:10.1016/j.cell.2012.05.012 · Cited by 5,554
Disorders of sex development: a new definition and classification
Hughes, I. A. (2008) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2007.11.001 · Cited by 438
Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene
Biason-Lauber, A., Konrad, D., Meyer, M., deBeaufort, C., & Schoenle, E. J. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.016 · Cited by 296
Self-citationAdaimy, L., Chouery, E., Mégarbané, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., & Mégarbané, A. (2007) · The American Journal of Human Genetics · doi:10.1086/520064 · Cited by 248
Metadata
- Authors
- Biason-Lauber, A., Konrad, D., Navratil, F., & Schoenle, E. J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2004-08-19
- Volume
- 351
- Issue
- 8
- Pages
- 792-798
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2041369790
- Cited by
- 438
- References
- 15
- FWCI
- 4.59
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Biason-Lauber, A., Konrad, D., Navratil, F., & Schoenle, E. J. (2004). A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman. New England Journal of Medicine. https://doi.org/10.1056/nejmoa040533
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
