Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
Само за регистроване кориснике
1994
Аутори
Foster, J.W.Dominguez-Steglich, M.A.
Guioli, S.
Kwok, C.
Weller, P.A.
Stevanović, Milena
Weissenbach, J.
Mansour, S.
Young, I.D.
Goodfellow, P.N.
Brook, J.D.
Schafer, A.J.
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
Извор:
Nature, 1994, 372, 6506, 525-530Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Foster, J.W. AU - Dominguez-Steglich, M.A. AU - Guioli, S. AU - Kwok, C. AU - Weller, P.A. AU - Stevanović, Milena AU - Weissenbach, J. AU - Mansour, S. AU - Young, I.D. AU - Goodfellow, P.N. AU - Brook, J.D. AU - Schafer, A.J. PY - 1994 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/87 AB - Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development. T2 - Nature T1 - Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene EP - 530 IS - 6506 SP - 525 VL - 372 DO - 10.1038/372525a0 ER -
@article{ author = "Foster, J.W. and Dominguez-Steglich, M.A. and Guioli, S. and Kwok, C. and Weller, P.A. and Stevanović, Milena and Weissenbach, J. and Mansour, S. and Young, I.D. and Goodfellow, P.N. and Brook, J.D. and Schafer, A.J.", year = "1994", abstract = "Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.", journal = "Nature", title = "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene", pages = "530-525", number = "6506", volume = "372", doi = "10.1038/372525a0" }
Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanović, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N., Brook, J.D.,& Schafer, A.J.. (1994). Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. in Nature, 372(6506), 525-530. https://doi.org/10.1038/372525a0
Foster J, Dominguez-Steglich M, Guioli S, Kwok C, Weller P, Stevanović M, Weissenbach J, Mansour S, Young I, Goodfellow P, Brook J, Schafer A. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. in Nature. 1994;372(6506):525-530. doi:10.1038/372525a0 .
Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanović, Milena, Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N., Brook, J.D., Schafer, A.J., "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene" in Nature, 372, no. 6506 (1994):525-530, https://doi.org/10.1038/372525a0 . .