نتائج البحث - "steroidogenic factor 1"

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

9

A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?

المؤلفون: Aristeidis Giannakopoulos, Amalia Sertedaki, Dionisios Chrysis

المصدر: European journal of human genetics : EJHG. 30(10)

مصطلحات موضوعية: LIM-Homeodomain Proteins, Forkhead Transcription Factors, Blepharophimosis, Primary Ovarian Insufficiency, Steroidogenic Factor 1, Mice, Pituitary Gland, Genetics, Animals, Humans, Female, Genes, Developmental, Genetics (clinical), Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf4b1b81fd279d0bcff26b1981adabcTest
https://pubmed.ncbi.nlm.nih.gov/35277652Test

10

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

المؤلفون: Amaia Rodríguez-Estévez, Luis Castaño, Amaia Vela, Milagros Alonso, Idoia Martínez de LaPiscina, Christa E. Flück, Jose Manuel Rial-Rodriguez, Ines Costa, Isabel Esteva, Rana Aa Mahmoud, Kay-Sara Sauter

المصدر: Martínez de LaPiscina, Idoia; Mahmoud, Rana Aa; Sauter, Kay-Sara; Esteva, Isabel; Alonso, Milagros; Costa, Ines; Rial-Rodriguez, Jose Manuel; Rodríguez-Estévez, Amaia; Vela, Amaia; Castano, Luis; Flück, Christa E. (2020). Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1. International journal of molecular sciences, 21(22) MDPI 10.3390/ijms21228554 <http://dx.doi.org/10.3390/ijms21228554Test>
Addi. Archivo Digital para la Docencia y la Investigación
instname
International Journal of Molecular Sciences, Vol 21, Iss 8554, p 8554 (2020)
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
International Journal of Molecular Sciences
Volume 21
Issue 22

مصطلحات موضوعية: 0301 basic medicine, Steroidogenic factor 1, Male, Multifactorial Inheritance, DSD, NR5A1/SF1, lcsh:Chemistry, Transactivation, disorder/difference of sex development, difference of sex development, 0302 clinical medicine, Sex hormone-binding globulin, AMH, nuclear receptor, Disorders of sex development, Child, 610 Medicine & health, lcsh:QH301-705.5, Spectroscopy, Genetics, biology, STAR, Inheritance (genetic algorithm), General Medicine, genotype–phenotype correlation, disorder, Phenotype, FOG2, Computer Science Applications, genotype–, DNA-Binding Proteins, SF1, Child, Preschool, SF-1, Female, adrenal insufficiency, transcription, Heterozygote, endocrine system, Adolescent, Receptors, Peptide, 030209 endocrinology & metabolism, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, medicine, Humans, In patient, Physical and Theoretical Chemistry, gene, Molecular Biology, Gene, Disorder of Sex Development, 46,XY, sex development, Organic Chemistry, Infant, Newborn, Genetic Variation, Infant, steroidogenic factor 1, medicine.disease, Phosphoproteins, mutations, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, phenotype correlation, binding domain, biology.protein, oligogenic disorders, 570 Life sciences, Receptors, Transforming Growth Factor beta, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e664dc1ec32426a9b1bacbd811c7a12cTest
https://boris.unibe.ch/150407Test/1/ijms-21-08554.pdf

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