Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Louisa M Ludbrook"'
Autor:
Kevin C Knower, Sabine Kelly, Louisa M Ludbrook, Stefan Bagheri-Fam, Helena Sim, Pascal Bernard, Ryohei Sekido, Robin Lovell-Badge, Vincent R Harley
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17751 (2011)
BackgroundIn human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-spe
Externí odkaz:
https://doaj.org/article/bea90a38f7f8408cb1c98344a5605be2
Autor:
Vincent R. Harley, Louisa M. Ludbrook
Publikováno v:
Trends in Endocrinology and Metabolism. 15:116-121
Traditionally, DAX1 was considered an 'anti-testis' gene because DAX1 duplications in XY individuals cause male-to-female sex reversal: dosage-sensitive sex reversal (DSS). In DSS, two active DAX1 genes on one X chromosome can abrogate testis formati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58faa37d873d2235387dbea16fb4acaa
https://doi.org/10.1016/j.tem.2004.02.002
https://doi.org/10.1016/j.tem.2004.02.002
Autor:
Louisa M. Ludbrook, Ryohei Sekido, Robin Lovell-Badge, Pascal Bernard, Vincent R. Harley, Janelle Ryan, Dagmar Wilhelm, Stefan Bagheri-Fam
Publikováno v:
Endocrinology. 153(4)
Human DAX1 duplications cause dosage-sensitive sex reversal (DSS) whereby chromosomally XY individuals can develop as females due to gonadal dysgenesis. However, the mechanism of DSS-adrenal hypoplasia congenita on X, gene 1 (DAX1) action in the feta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6091ffe7d38b47d553bf3013ea43e9e0
https://pubmed.ncbi.nlm.nih.gov/22294746
https://pubmed.ncbi.nlm.nih.gov/22294746
Autor:
Vincent R. Harley, Louisa M. Ludbrook
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781441980014
Genetic changes in key sex-determining genes lead to 46,XY disorders of sex development (DSD) in humans. Loss-of-function mutation in the sex-determining region on Y (SRY), steroidogenic factor 1 (SF1), and SRY-Box gene 9 (SOX9) genes causes varying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::757d3d1d804b79420e58c2abc21de992
https://doi.org/10.1007/978-1-4419-8002-1_19
https://doi.org/10.1007/978-1-4419-8002-1_19
Autor:
Dagmar Wilhelm, Peter Koopman, Louisa M. Ludbrook, Pascal Bernard, Vincent R. Harley, Andrew H. Sinclair, Janelle Ryan
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 5(1)
Mammalian sex determination is a dynamic process involving balanced gene expression leading to the development of either a testis or an ovary. Candidate sex-determining genes have been identified through microarray-based studies of gonadal gene expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b5c99ecc5f597bb4f4c8fe825390559
https://pubmed.ncbi.nlm.nih.gov/21099207
https://pubmed.ncbi.nlm.nih.gov/21099207
Autor:
Vincent R. Harley, Andrew H. A. Clayton, Sabine Kelly, Kieran A Rimmer, Louisa M. Ludbrook, Helena Sim
Publikováno v:
Molecular endocrinology (Baltimore, Md.). 19(7)
The sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, as mutations in SRY can cause XY sex reversal. Although some SRY missense mutations affect DNA binding and bending activities, it is unclear how others
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3bfdc24fca67bd60e2bbc2d776f6365
https://pubmed.ncbi.nlm.nih.gov/15746192
https://pubmed.ncbi.nlm.nih.gov/15746192
Autor:
Robin Lovell-Badge, Kevin Christopher Knower, Stefan Bagheri-Fam, Helena Yin Yee Sim, Pascal Bernard, Louisa M. Ludbrook, Sabine Kelly, Vincent R. Harley, Ryohei Sekido
Publikováno v:
PLoS ONE
PLoS ONE, Vol 6, Iss 3, p e17751 (2011)
PLoS ONE, Vol 6, Iss 3, p e17751 (2011)
BackgroundIn human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375c1ca5f117f19405d6683a90dff610
https://doi.org/10.1371/journal.pone.0017751
https://doi.org/10.1371/journal.pone.0017751
Publikováno v:
Reproduction, Fertility and Development. 21:95
The DAX1 protein is an orphan nuclear hormone receptor expressed in developing and adult hypothalamic, pituitary, adrenal and gonadal tissues. In humans, duplication of the DAX1 gene at locus Xp21 causes Disorders of Sex Development (DSD), whereby XY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::034b5376c11e053c39a35d95ce275157
https://doi.org/10.1071/srb09abs177
https://doi.org/10.1071/srb09abs177