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المؤلفون: Ping Yin, Edmond Confino, You Hong Cheng, Qing Xue, Zhihong Lin, Serdar E. Bulun, Magdy P. Milad, Scott Reierstad
المصدر: The Journal of clinical endocrinology and metabolism. 92(8)
مصطلحات موضوعية: Steroidogenic factor 1, Transcriptional Activation, medicine.medical_specialty, Stromal cell, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Blotting, Western, Endometriosis, Receptors, Cytoplasmic and Nuclear, Context (language use), Biology, Endometrium, Decitabine, Steroidogenic Factor 1, Transfection, Biochemistry, Endocrinology, Aromatase, Genes, Reporter, Internal medicine, medicine, Humans, Immunoprecipitation, Enzyme Inhibitors, Luciferases, Cells, Cultured, Homeodomain Proteins, Aromatase Inhibitors, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), Methylation, DNA Methylation, medicine.disease, Chromatin, medicine.anatomical_structure, CpG site, DNA methylation, Azacitidine, RNA, CpG Islands, Female, Plasmids, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b319c0c9267a7a3e2699d4976c0cfd4Test
https://pubmed.ncbi.nlm.nih.gov/17519303Test -
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المؤلفون: Iwona J. Bujalska, William E. Rainey, Mary H. Bassett, Paul M. Stewart, Khurram Rehman, Bobbie A. Mayhew, Giorgio Arnaldi, Perrin C. White, Franco Mantero
المصدر: The Journal of clinical endocrinology and metabolism. 90(9)
مصطلحات موضوعية: Aldosterone synthase, Steroidogenic factor 1, Adenoma, medicine.medical_specialty, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Steroidogenic Factor 1, Biochemistry, Gene Expression Regulation, Enzymologic, chemistry.chemical_compound, Endocrinology, Adrenal Cortex Hormones, Computer Systems, Internal medicine, medicine, Humans, RNA, Messenger, Steroid 11-beta-hydroxylase, Aldosterone, Oligonucleotide Array Sequence Analysis, biology, Adrenal cortex, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), Adrenal Cortex Neoplasms, Enzymes, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, chemistry, Case-Control Studies, biology.protein, HSD3B2, medicine.drug, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ca4ec1dce0b3755085e5975f898da9Test
https://pubmed.ncbi.nlm.nih.gov/15985477Test -
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المؤلفون: Adela Voican, Jérôme Dulon, Anne Bachelot, Marc Lombès, Jérôme Bouligand, Bruno Francou, Philippe Touraine, Anne Guiochon-Mantel
المصدر: The Journal of clinical endocrinology and metabolism. 98(5)
مصطلحات موضوعية: Adult, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Primary ovarian insufficiency, Molecular Sequence Data, Mutation, Missense, Context (language use), Biology, Primary Ovarian Insufficiency, medicine.disease_cause, Steroidogenic Factor 1, Biochemistry, Cohort Studies, Young Adult, Endocrinology, Africa, Northern, Genes, Reporter, Internal medicine, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Genetic Association Studies, Family Health, Transcriptional activity, Mutation, Biochemistry (medical), NR5A1 gene, Significant difference, Reproducibility of Results, Recombinant Proteins, Europe, Amino Acid Substitution, Female, Sequence Alignment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032b3ee707791dbfa2b2b4128e814a53Test
https://pubmed.ncbi.nlm.nih.gov/23543655Test -
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المؤلفون: L. Castaño, Nuria Toran, E. García-García, Pilar Andaluz, Primus E. Mullis, A. Carrascosa, Laura Audí, Marco Janner, Núria Camats, Francisca Moreno, Teoman Akcay, R. Gracia, Mónica Fernández-Cancio, Manuel Nistal, M. T. Muñoz, Abdullah Bereket, Amit V. Pandey, Christa E. Flück
المساهمون: Camats, N., Pandey, A. V., Fernandez-Cancio, M., Andaluz, P., Janner, M., Toran, N., Moreno, F., Bereket, A., Akcay, T., Garcia-Garcia, E., Munoz, M. T., Gracia, R., Nistal, M., Castano, L., Mullis, P. E., Carrascosa, A., Audi, L., Flueck, C. E.
المصدر: The Journal of clinical endocrinology and metabolism
Camats Tarruella, Núria; Pandey, Amit Vikram; Fernández-Cancio, M.; Andaluz, P.; Janner, Marco; Torán, N.; Moreno, F.; Bereket, A.; Akcay, T.; García-García, E.; Muñoz, M. T.; Gracia, R.; Nistal, M.; Castaño, L.; Mullis, Primus-Eugen; Carrascosa, A.; Audí, L.; Flück Pandey, Christa Emma (2012). Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Journal of clinical endocrinology and metabolism, 97(7), E1294-306. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-3169 <http://dx.doi.org/10.1210/jc.2011-3169Test>مصطلحات موضوعية: Male, Steroidogenic factor 1, 46, XX Disorders of Sex Development, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Primary Ovarian Insufficiency, Steroidogenic Factor 1, medicine.disease_cause, STEROIDOGENIC FACTOR-I, Biochemistry, 0302 clinical medicine, Endocrinology, Young adult, Child, 0303 health sciences, Mutation, Phenotype, 3. Good health, SF1, Child, Preschool, SF-1, Female, XY GONADAL-DYSGENESIS, medicine.medical_specialty, endocrine system, Adolescent, Molecular Sequence Data, 030209 endocrinology & metabolism, Context (language use), 610 Medicine & health, Biology, PATIENT, Young Adult, 03 medical and health sciences, HETEROZYGOUS MUTATION, Internal medicine, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Gene, 030304 developmental biology, Disorder of Sex Development, 46,XY, Base Sequence, Point mutation, Biochemistry (medical), Heterozygote advantage, FACTOR-1, GLY146ALA POLYMORPHISM, DNA-BINDING DOMAIN, ADRENAL INSUFFICIENCY
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9aef72c141816e92e211c8403081abTest