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المؤلفون: Anthony Daniel Bird, Andrew H. Sinclair, Vincent R. Harley, Brittany Croft, Faustine Declosmenil, Peter Koopman, Louisa Mabel Ludbrook, Francis Poulat, Ken McElreavey, Kevin Christopher Knower, Brett Daniel Fisher, Janelle Ryan, Anu Bashamboo, Rajini Sreenivasan
المساهمون: University of Melbourne, Monash University [Victoria, Australia], Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hudson Institute of Medical Research [Clayton], Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP), Murdoch Children’s Research Institute [Melbourne, Australia], Institute for Molecular Bioscience, University of Queensland [Brisbane], This work was supported by the National Health and Medical Research Council of Australia (NHMRC) Program Grants 334314 and 546517 to V.H., P.K., and A.S. and by the Victorian Government's Operational Infrastructure Support Program (OIS). R.S. was supported by an Australian Postgraduate Award. B.C. is supported by an Australian Government Research Training Program Scholarship, through Monash University. V.H., P.K.. and A.S. are supported by NHMRC Research Fellowships.
المصدر: Human Mutation
Human Mutation, 2018, 39 (12), pp.1861-1874. ⟨10.1002/humu.23603⟩مصطلحات موضوعية: Male, 0301 basic medicine, Steroidogenic factor 1, MESH: Sequence Analysis, DNA, testis-specific enhancer of SOX9, Mutant, sex determination, DSD, Ligands, Steroidogenic Factor 1, medicine.disease_cause, 0302 clinical medicine, MESH: Child, MESH: Ligands, Disorders of sex development, Child, Genetics (clinical), Regulation of gene expression, Genetics, Mutation, MESH: Infant, Newborn, MESH: Disorder of Sex Development, 46,XY, SOX9 Transcription Factor, MESH: Infant, MESH: Gene Expression Regulation, Enhancer Elements, Genetic, Testis determining factor, MESH: HEK293 Cells, Child, Preschool, SF-1, SOX9, Protein Binding, Adult, MESH: Mutation, Adolescent, 030209 endocrinology & metabolism, Biology, MESH: SOX9 Transcription Factor, 03 medical and health sciences, MESH: Computer Simulation, medicine, MESH: Protein Binding, Humans, Computer Simulation, Enhancer, MESH: Adolescent, MESH: Humans, Disorder of Sex Development, 46,XY, MESH: Child, Preschool, Infant, Newborn, Infant, MESH: Adult, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Sequence Analysis, DNA, MESH: Steroidogenic Factor 1, medicine.disease, MESH: Male, HEK293 Cells, 030104 developmental biology, Gene Expression Regulation, MESH: Enhancer Elements, Genetic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85bf3bb6c1222048f9bebd0d6dd26b0bTest
https://doi.org/10.1002/humu.23603Test -
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المصدر: Endocrine-Related Cancer. 21:T33-T55
مصطلحات موضوعية: Cancer Research, Endocrinology, Diabetes and Metabolism, Population, Breast Neoplasms, Phytoestrogens, Mammary gland formation, Endocrine Disruptors, Biology, Bioinformatics, Article, Epigenesis, Genetic, chemistry.chemical_compound, Endocrinology, Breast cancer, medicine, Animals, Humans, Endocrine system, Epigenetics, Aromatase, skin and connective tissue diseases, education, Life Style, Genetics, education.field_of_study, Genome, Epigenome, medicine.disease, Oncology, chemistry, biology.protein, Environmental Pollutants, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02bf55c6aa51be7a890242525d5bdc9aTest
https://doi.org/10.1530/erc-13-0513Test -
3
المؤلفون: Rajini Sreenivasan, Pascal Bernard, Ryohei Sekido, Kevin Christopher Knower, Stefan Bagheri-Fam, Walter Just, Vincent R. Harley, Robin Lovell-Badge
المصدر: Chromosome Research. 20:191-199
مصطلحات موضوعية: Male, endocrine system, Gonad, Genetic Vectors, Molecular Sequence Data, Y chromosome, Conserved sequence, Evolution, Molecular, Mice, Y Chromosome, Testis, Genetics, medicine, Animals, Humans, Cloning, Molecular, Enhancer, Conserved Sequence, Sequence Deletion, Regulation of gene expression, Binding Sites, Base Sequence, Models, Genetic, biology, Arvicolinae, Genetic Variation, SOX9 Transcription Factor, Sequence Analysis, DNA, Sex Determination Processes, biology.organism_classification, Ellobius, HEK293 Cells, Testis determining factor, medicine.anatomical_structure, Gene Expression Regulation, Mutagenesis, Site-Directed, Ellobius tancrei, Female, Sequence Alignment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a3ed27ef0328cd93f20d34ad8eb0c6Test
https://doi.org/10.1007/s10577-011-9269-5Test -
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المؤلفون: Dale McAninch, Vincent R. Harley, Valerie A. Arboleda, Paul Q. Thomas, Henrik Bengtsson, Eric Vilain, Jennie Slee, Karine Rizzoti, Ryohei Sekido, João Gonçalves, Edwina Sutton, Jacqueline Tan, Helen J. Eyre, Robin Lovell-Badge, D L Bruno, James N. Hughes, Erin Turbitt, Kevin Christopher Knower, Stefan J. White, L. Rowley, Nicholas Rogers, Andrew H. Sinclair
المصدر: Journal of Clinical Investigation. 121:328-341
مصطلحات موضوعية: Male, 46, XX Testicular Disorders of Sex Development, Male sex determination, Reversão Sexual, Regulatory Sequences, Nucleic Acid, Mice, 0302 clinical medicine, Pregnancy, Testis, Gene Rearrangement, Regulation of gene expression, Genetics, 0303 health sciences, Sex Reversal, Gene Expression Regulation, Developmental, SOX9 Transcription Factor, General Medicine, Sex reversal, Doença Genéticas, Up-Regulation, medicine.anatomical_structure, Testis determining factor, SOX3, Female, SOX9, Research Article, Homem XX, Adult, Gonad, Transgene, Mice, Transgenic, Biology, Y chromosome, Aldehyde Dehydrogenase 1 Family, 03 medical and health sciences, SRY, medicine, Animals, Humans, DNA Primers, 030304 developmental biology, Sertoli Cells, Base Sequence, SOXB1 Transcription Factors, Infant, Retinal Dehydrogenase, Sex Determination, Gene rearrangement, Aldehyde Dehydrogenase, XX Male, Mice, Inbred C57BL, Disease Models, Animal, Mice, Inbred CBA, Determinação do Sexo, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7d43b1ba659bbd810739b244eaa5e2Test
https://doi.org/10.1172/jci42580Test -
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المؤلفون: Ina Georg, Kevin Christopher Knower, Gerd Scherer, Vincent R. Harley, Stefan Bagheri-Fam, Peter Wieacker
المصدر: Sexual Development. 4:321-325
مصطلحات موضوعية: Genetics, Embryology, Mutation, Endocrinology, Diabetes and Metabolism, Point mutation, Gonadal dysgenesis, SOX9, Sex reversal, Biology, medicine.disease_cause, medicine.disease, XY gonadal dysgenesis, Campomelic dysplasia, Testis determining factor, medicine, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2ff42145cba33997bce892cec763db99Test
https://doi.org/10.1159/000320142Test -
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المؤلفون: Kevin Christopher Knower, Sarah Quynh Giao To, Ashwini L. Chand, Nde Cb Magne, Colin Clyne, Zhe Zhao, Kyren A. Lazarus
المصدر: Atlas of Genetics and Cytogenetics in Oncology and Haematology.
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, medicine.drug_class, Estrogen receptor, Hematology, Biology, medicine.disease, GREB1, chemistry.chemical_compound, Endocrinology, Breast cancer, Oncology, chemistry, Estrogen, Internal medicine, Genetics, medicine, skin and connective tissue diseases, Estrogen receptor alpha, Gene, Estrogen receptor beta, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb833e0524aa993cddff97a967729b41Test
https://doi.org/10.4267/2042/48754Test -
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المؤلفون: Josephine Bowles, Peter J. McClive, Helena Yin Yee Sim, Andrew H. Sinclair, Kevin Christopher Knower, Peter Koopman, Vincent R. Harley
المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 1(2)
مصطلحات موضوعية: Male, Embryology, Cell type, Sex Differentiation, Endocrinology, Diabetes and Metabolism, Urogenital System, Biology, Embryonal carcinoma, Carcinoma, Embryonal, Cell Line, Tumor, Testis, medicine, Humans, Gonads, Gene, Desert hedgehog, Regulation of gene expression, Genetics, Sertoli Cells, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Ovary, Gene Expression Regulation, Developmental, Leydig Cells, Sex Determination Processes, medicine.disease, Cell biology, Gene expression profiling, Gene Expression Regulation, Neoplastic, Testis determining factor, Germ Cells, Cell culture, Female, Developmental Biology, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c7cae3463eb3d1d681e5a99f58b965Test
https://pubmed.ncbi.nlm.nih.gov/18391522Test -
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المؤلفون: Kevin Christopher Knower, Vincent R. Harley, Sabine Kelly
المصدر: Cytogenetic and genome research. 101(3-4)
مصطلحات موضوعية: Male, Gonad, health care facilities, manpower, and services, Biology, medicine.disease_cause, Y chromosome, Mice, parasitic diseases, Genetic model, Genetics, medicine, Animals, Humans, SOX9 Transcription Factor, Genes, sry, Molecular Biology, Gene, Genetics (clinical), Mammals, Mutation, Models, Genetic, High Mobility Group Proteins, Nuclear Proteins, social sciences, Sex Determination Processes, Phenotype, Sex-Determining Region Y Protein, DNA-Binding Proteins, Testis determining factor, medicine.anatomical_structure, population characteristics, geographic locations, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71fe76a898e1fd293cddc8fa44b1c62Test
https://pubmed.ncbi.nlm.nih.gov/14684982Test -
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المؤلفون: N. Moreno-Mendoza, S. Aoyama, E. De Baere, M. Nakamura, M.H. Bogart, R.P. Teasdale, N.R. Bromage, Richard R. Behringer, D.K. Griffin, G.-C. Wu, N. Servel, Y.-H. Lee, V.A. Lance, M. Takase, Q. Yu, S.C. Harvey, P Penman, C. Santucciu, Annemiek Beverdam, Peter Koopman, Marilyn B. Renfree, T. Kobayashi, R. Campos-Ramos, Frank Grützner, L.-T. Sun, H. Merchant-Larios, V.R. Harley, Vincent R. Harley, J.-L. Du, M. Pannetier, J. Cocquet, A. Chesnel, M.T. Ezaz, C.-L. He, R.A. Veitia, S. Kuntz, C. Murdock, I. Grillier-Vuissoz, K. Matsui, J.A. Marchal, Sabine Kelly, Andrew J Pask, Stéphane Flament, L. Yue, N. Besnard, T. Taketo, X. Xia, A. Sánchez, Mónica Bullejos, C. Boonphakdee, R. Zhou, Eric Pailhoux, Kevin Christopher Knower, Y. Guo, H. Cheng, Jo Bowles, S. Tokunaga, M.J. Acosta, Marc Fellous, S. Takada, M. Gareil, H.W. Lau, C.-F. Chang, Y.-F.C. Lau, T. Wibbels, Y. Nagahama, K. Shibata, D. Chardard, Jennifer A. Marshall Graves, Y. Li, D.R. Carvalho-Silva, C. Cotinot, Kristy M. James, L.G. Kömüves, Dagmar Wilhelm, H. Kajiura-Kobayashi, R. Díaz de la Guardia
المصدر: Cytogenetic and Genome Research. 101:323-324
مصطلحات موضوعية: Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::66e66b60334299984ede6adf2d81d3daTest
https://doi.org/10.1159/000075682Test -
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المؤلفون: Andrew J Pask, J.A. Marchal, Kevin Christopher Knower, Frank Grützner, D. Chardard, R.A. Veitia, H. Merchant-Larios, Jennifer A. Marshall Graves, C. Boonphakdee, N. Besnard, S. Aoyama, R. Díaz de la Guardia, N. Moreno-Mendoza, Kristy M. James, J.-L. Du, R. Campos-Ramos, M.J. Acosta, S. Takada, C.-L. He, T. Wibbels, J. Cocquet, Eric Pailhoux, X. Xia, K. Matsui, M. Nakamura, C. Cotinot, R.P. Teasdale, H. Cheng, N.R. Bromage, D.K. Griffin, R. Zhou, M. Gareil, Annemiek Beverdam, E. De Baere, H.W. Lau, Q. Yu, T. Taketo, Stéphane Flament, Jo Bowles, L. Yue, G.-C. Wu, Marc Fellous, Peter Koopman, N. Servel, Sabine Kelly, V.R. Harley, Vincent R. Harley, C. Santucciu, A. Chesnel, Marilyn B. Renfree, T. Kobayashi, Mónica Bullejos, C.-F. Chang, S. Kuntz, D.R. Carvalho-Silva, M.H. Bogart, Y.-F.C. Lau, Y. Guo, K. Shibata, Y. Li, A. Sánchez, Richard R. Behringer, L.-T. Sun, L.G. Kömüves, Dagmar Wilhelm, V.A. Lance, Y.-H. Lee, M. Takase, S. Tokunaga, H. Kajiura-Kobayashi, Y. Nagahama, M. Pannetier, S.C. Harvey, P Penman, M.T. Ezaz, C. Murdock, I. Grillier-Vuissoz
المصدر: Cytogenetic and Genome Research. 101:321-322
مصطلحات موضوعية: Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b5b83122e50f56bec6bace5eb3da4364Test
https://doi.org/10.1159/000075681Test