-
1دورية أكاديمية
المؤلفون: Houzelstein, Denis, Eozenou, Caroline, Lagos, Carlos F, Elzaiat, Maëva, Bignon-Topalovic, Joelle, Gonzalez, Inma, Laville, Vincent, Schlick, Laurène, Wankanit, Somboon, Madon, Prochi, Kirtane, Jyotsna, Athalye, Arundhati, Buonocore, Federica, Bigou, Stéphanie, Conway, Gerard S, Bohl, Delphine, Achermann, John C, Bashamboo, Anu, McElreavey, Ken
المصدر: Nat Commun , 15 (1) , Article 2796. (2024)
مصطلحات موضوعية: Animals, Female, Humans, Male, Cell Line, Gonadal Dysgenesis, Mammals, Regulatory Sequences, Nucleic Acid, Sertoli Cells, Sex-Determining Region Y Protein, Steroidogenic Factor 1, Testis
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10190309Test/1/s41467-024-47162-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10190309Test/
الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10190309Test/1/s41467-024-47162-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10190309Test/ -
2دورية أكاديمية
المؤلفون: Bashamboo, Anu, Donohoue, Patricia, Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu, Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill, Mulukutla, Surya, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer, de Silva, Ksh, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos, McElreavey, Ken, Achermann, John
المصدر: Human Molecular Genetics. 25(16)
مصطلحات موضوعية: Adult, Androgen-Insensitivity Syndrome, Cell Lineage, Child, DNA-Binding Proteins, Disorder of Sex Development, 46, XY, Female, Gonads, Humans, Karyotype, Male, Mutation, Missense, Ovary, Pedigree, Primary Ovarian Insufficiency, Sex Determination Processes, Sexual Development, Steroidogenic Factor 1, Testis
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/61c4c8w9Test
-
3دورية أكاديمية
المؤلفون: Sablin, Elena P, Blind, Raymond D, Uthayaruban, Rubatharshini, Chiu, Hsiu-Ju, Deacon, Ashley M, Das, Debanu, Ingraham, Holly A, Fletterick, Robert J
المصدر: Journal of Structural Biology. 192(3)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Digestive Diseases, Liver Disease, Binding Sites, Crystallography, X-Ray, DAX-1 Orphan Nuclear Receptor, Humans, Models, Molecular, Phosphatidylinositols, Protein Binding, Protein Structure, Tertiary, Receptors, Cytoplasmic and Nuclear, Steroidogenic Factor 1, Nuclear receptor, Liver Receptor Homolog-1, LRH-1, NR5A2, Crystal structure, PIP3, Ligand, PIP(3), Zoology, Biophysics, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5g86n9z9Test
-
4دورية أكاديمية
المؤلفون: Blind, Raymond D, Sablin, Elena P, Kuchenbecker, Kristopher M, Chiu, Hsiu-Ju, Deacon, Ashley M, Das, Debanu, Fletterick, Robert J, Ingraham, Holly A
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 111(42)
مصطلحات موضوعية: Generic health relevance, Amino Acids, Animals, Biological Transport, Cell Nucleus, Chromatography, Computer Simulation, Crystallography, X-Ray, Electrons, Humans, Ligands, Lipids, Mice, Models, Molecular, Molecular Conformation, Mutation, Mutation, Missense, Peptides, Phosphatidylinositols, Signal Transduction, Solvents, Steroidogenic Factor 1, Surface Plasmon Resonance, Surface Properties, Temperature, Water, transcription, nucleus, crystallography, ligand dependent, lipid transport
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/74w2x3g8Test
-
5مؤتمر
المؤلفون: Xu, B, Yang, WH, Gerin, I, Hu, CD, Hammer, GD, Koenig, RJ
مصطلحات موضوعية: Adrenal Cortex, Amino Acid Sequence, Amino Acid Substitution, Animals, Cell Line, DAX-1 Orphan Nuclear Receptor, DNA-Binding Proteins, Humans, Intracellular Space, Male, Mice, Molecular Sequence Data, Mutant Proteins, Nuclear Receptor Coactivator 2, Phosphoproteins, Promoter Regions, Genetic, Protein Binding, Protein Transport, RNA, Long Noncoding, Small Interfering, Untranslated, Receptors, Retinoic Acid, Repressor Proteins, Steroidogenic Factor 1, Steroids, Testis, Trans-Activators
وصف الملف: application/pdf
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/19188450Test; https://hdl.handle.net/2027.42/191162Test; https://dx.doi.org/10.7302/21551Test; orcid:0000-0001-7429-3908; orcid:0000-0001-6843-3628; orcid:0000-0003-0021-4976; Xu, B; 0000-0001-7429-3908; Yang, WH; Gerin, I; Hu, CD; Hammer, GD; 0000-0001-6843-3628; Koenig, RJ; 0000-0003-0021-4976
الإتاحة: https://doi.org/10.1128/MCB.01010-08Test
https://doi.org/10.7302/21551Test
https://hdl.handle.net/2027.42/191162Test
https://www.ncbi.nlm.nih.gov/pubmed/19188450Test -
6دورية أكاديمية
المؤلفون: Blind, Raymond D, Suzawa, Miyuki, Ingraham, Holly A
المصدر: Science Signaling. 5(229)
مصطلحات موضوعية: Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Binding Sites, Blotting, Western, Cell Nucleus, Chromatin Immunoprecipitation, HEK293 Cells, Humans, Kinetics, Models, Molecular, Molecular Structure, Mutation, PTEN Phosphohydrolase, Phosphatidylinositol 3-Kinases, Phosphatidylinositol 4, 5-Diphosphate, Phosphatidylinositol Phosphates, Phosphorylation, Phosphotransferases (Alcohol Group Acceptor), Protein Binding, Protein Structure, Tertiary, RNA Interference, Signal Transduction, Steroidogenic Factor 1, Substrate Specificity, Biochemistry and Cell Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/63s4n3vdTest
-
7دورية أكاديمية
المؤلفون: Correa, Stephanie M, Washburn, Linda L, Kahlon, Ravi S, Musson, Michelle C, Bouma, Gerrit J, Eicher, Eva M, Albrecht, Kenneth H
المصدر: PLoS genetics. 8(4)
مصطلحات موضوعية: Ovary, Testis, X Chromosome, Y Chromosome, Animals, Mice, Inbred C57BL, Mice, Inbred DBA, Mice, Transgenic, Humans, Mice, WT1 Proteins, In Situ Hybridization, Gene Expression Regulation, Developmental, Gene Dosage, Alleles, Female, Male, Steroidogenic Factor 1, SOXB1 Transcription Factors, Sex Determination Processes, Wnt4 Protein, Gene Expression Regulation, Developmental, Inbred C57BL, Inbred DBA, Transgenic, Genetics, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9t69j0fcTest
-
8
المؤلفون: Ken Ichirou Morohashi, Takashi Baba, Miki Inoue
المصدر: Endocrinology and Metabolism
مصطلحات موضوعية: Steroidogenic factor 1, endocrine system, Knockout, Endocrinology, Diabetes and Metabolism, Cellular differentiation, Ad4BP, NR5A1, 030209 endocrinology & metabolism, Review Article, Adrenal glands, Biology, Steroidogenic Factor 1, Genome, Mice, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Animals, Humans, Gonads, Gene, Cell proliferation, Biological Phenomena, Mice, Knockout, Mechanism (biology), Cell growth, Cell Differentiation, Phenotype, Cell biology, 030220 oncology & carcinogenesis, Knockout mouse, Glycolysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f63b8855770cce805c899110711d9cdTest
https://doi.org/10.3803/enm.2020.402Test -
9
المصدر: Problems of Endocrinology. 66:62-69
مصطلحات موضوعية: Male, 0301 basic medicine, Steroidogenic factor 1, Heterozygote, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Gonadal dysgenesis, 030209 endocrinology & metabolism, Biology, Steroidogenic Factor 1, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, In patient, Disorders of sex development, Gene, Genetic Association Studies, Gonadal Dysgenesis, 46,XY, Adrenal failure, medicine.disease, Molecular analysis, 030104 developmental biology, Endocrinology, Nuclear receptor, Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34dcc692d352379b02ded671c477fb0bTest
https://doi.org/10.14341/probl12445Test -
10
المؤلفون: Yiming Ji, Yiping Cheng, Chao Xu, Xinli Zhou, Jing Chen, Jiangfei Yang
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Proband, endocrine system, NR5A1, MAP Kinase Kinase Kinase 1, MAP3K1, 030105 genetics & heredity, Biology, Steroidogenic Factor 1, Genetic analysis, 03 medical and health sciences, Plasmid, Exome Sequencing, Diagnosis, Humans, Pharmacology (medical), Gene, Genetics (clinical), Genetics, Disorder of Sex Development, 46,XY, Sexual Development, Research, Wild type, General Medicine, Transfection, Human genetics, Pedigree, XY differences in sex development, 030104 developmental biology, Mutation, embryonic structures, Medicine, Heterogeneity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb079efa6a703af462b9585d6b79a7d0Test
https://doaj.org/article/4f13136fc8874a948ec34eedb900949cTest