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/

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

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

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

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

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

المؤلفون: Ruggiero, Carmen, Doghman, Mabrouka, Lalli, Enzo

المساهمون: Institut de Pharmacologie Moleculaire et Cellulaire CNRS, Valbonne 06560, France (CR, MD, EL), Associated International Laboratory (LIA) NEOGENEX CNRS, Valbonne 06560, France (CR, MD, EL), University of Nice-Sophia-Antipolis, Valbonne 06560, France (CR, MD, EL)

مصطلحات موضوعية: NR5A1, Genes Section, XY Disorders of Sex Development/*genetics, XX Disorders of Sex Development/complications/*genetics, Humans, Animals, Steroidogenic Factor 1/genetics/*metabolism, Male, Mice, Steroidogenic Factor 1/*genetics, Female, Cell Line, Tumor, Molecular Sequence Data

الوقت: 46

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Genes/NR5A1ID45858ch9q33.htmlTest; Carmen, Ruggiero; Mabrouka, Doghman; Enzo, Lalli. NR5A1 (nuclear receptor subfamily 5, group A, member 1). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2015, 8, p. 522-534; http://hdl.handle.net/2042/62260Test; https://doi.org/10.4267/2042/62260Test

الإتاحة: https://doi.org/10.4267/2042/62260Test
http://hdl.handle.net/2042/62260Test

المساهمون: Yun-Yong Park, Han-Jong Kim, Hueng-Sik Choi, Kyoung-Hee Kim, Minho Shong, Kang-Yeol Yu, Ki Cheol Park, Kwang-Hoon Song, Mi-Young Kim, Joon-Young Kim, Kim, Mi Young

مصطلحات موضوعية: Amino Acid Sequence, Animals, COS Cells, Cercopithecus aethiops, DAX-1 Orphan Nuclear Receptor, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Gene Expression Regulation, Humans, Models, Molecular, Molecular Sequence Data, Mutation/genetics, Receptors, Cytoplasmic and Nuclear/genetics, Cytoplasmic and Nuclear/metabolism, Retinoic Acid/genetics, Retinoic Acid/metabolism, Repressor Proteins/genetics, Repressor Proteins/metabolism, Steroidogenic Factor 1, Trans-Activators/genetics, Transcription, Genetic, Tumor Cells, Cultured, X Chromosome/genetics, X Chromosome/metabolism

وصف الملف: 1082~1095

العلاقة: MOLECULAR ENDOCRINOLOGY; J02257; OAK-2004-01980; https://ir.ymlib.yonsei.ac.kr/handle/22282913/111173Test; http://dx.doi.org/10.1210/me.2003-0339Test; T200404825; MOLECULAR ENDOCRINOLOGY , Vol.18(5) : 1082-1095, 2004

الإتاحة: https://doi.org/10.1210/me.2003-0339Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111173Test

المساهمون: John C Achermann, Jeffrey Weiss, Eun-Jig Lee, J.Larry Jameson, Lee, Eun Jig

مصطلحات موضوعية: Animals, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Disorders of Sex Development/genetics, Disorders of Sex Development/metabolism, Female, Fushi Tarazu Transcription Factors, Gametogenesis/physiology, Gonadotropin-Releasing Hormone/genetics, Gonadotropin-Releasing Hormone/metabolism, Gonadotropins/genetics, Gonadotropins/metabolism, Homeodomain Proteins, Humans, Kallmann Syndrome/genetics, Kallmann Syndrome/physiopathology, Male, Mutation/genetics, Pituitary Gland, Anterior/growth & development, Anterior/physiopathology, Receptors, Cytoplasmic and Nuclear, Steroidogenic Factor 1, Transcription Factors/genetics, Transcription Factors/metabolism, DAX-1, GnRH, Gonadotropins, Kallmann

وصف الملف: 89~96

العلاقة: MOLECULAR AND CELLULAR ENDOCRINOLOGY; J02244; OAK-2001-01073; https://ir.ymlib.yonsei.ac.kr/handle/22282913/142953Test; http://www.sciencedirect.com/science/article/pii/S0303720701004749Test; T200103422; MOLECULAR AND CELLULAR ENDOCRINOLOGY, Vol.179(1-2) : 89-96, 2001

الإتاحة: https://doi.org/10.1016/S0303-7207Test(01)00474-9
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142953Test
http://www.sciencedirect.com/science/article/pii/S0303720701004749Test

المؤلفون: Janse, Femi, de With, Larissa M, Duran, Karen J, Kloosterman, Wigard P, Goverde, Angelique J, Lambalk, Cornelius B, Laven, Joop S E, Fauser, Bart C J M, Giltay, Jacques C, Hoek, Annemieke

المصدر: Janse , F , de With , L M , Duran , K J , Kloosterman , W P , Goverde , A J , Lambalk , C B , Laven , J S E , Fauser , B C J M , Giltay , J C , Dutch Primary Ovarian Insufficiency Consortium & Hoek , A 2012 , ' Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI) ' , Fertility and sterility , vol. 97 , no. 1 , pp. 141-6.e2 . https://doi.org/10.1016/j.fertnstert.2011.10.032Test

مصطلحات موضوعية: Adolescent, Adult, Cross-Sectional Studies, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Middle Aged, Phenotype, Point Mutation, Primary Ovarian Insufficiency, RNA Splice Sites, Steroidogenic Factor 1, Young Adult

العلاقة: https://research.rug.nl/en/publications/7d93d868-2513-4504-931a-ccb5fe5a455aTest

الإتاحة: https://doi.org/10.1016/j.fertnstert.2011.10.032Test
https://hdl.handle.net/11370/7d93d868-2513-4504-931a-ccb5fe5a455aTest
https://research.rug.nl/en/publications/7d93d868-2513-4504-931a-ccb5fe5a455aTest