نتائج البحث - "Jacqueline Van Sande"

31

Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci

المؤلفون: Gilbert Vassart, Daniel Metzger, Roy E. Weiss, Aviva Mimouni-Bloch, Samuel Refetoff, Marc Mimouni, Hussein Abdullatif, Helmut Grasberger, Marie-Christine Vantyghem, Neal H. Scherberg, Catherine Rydlewski, Guy Van Vliet, Marc Abramowicz, Jacqueline Van Sande, Paolo Emidio Macchia

المساهمون: Grasberger, H., MIMOUNI BLOCH, A., Vantyghem, M. C., VAN VLIET, G., Abramowicz, M., Metzger, D. L., Abdullatif, H., Rydlewski, C., Macchia, PAOLO EMIDIO, Scherberg, N. H., VAN SANDE, J., Mimouni, M., Weiss, R. E., Vassart, G., Refetoff, S.

المصدر: The Journal of clinical endocrinology and metabolism. 90(7)

مصطلحات موضوعية: Male, Thyroid Hormone Resistance Syndrome, endocrine system, medicine.medical_specialty, endocrine system diseases, Genetic Linkage, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Thyrotropin, Context (language use), Gene mutation, Biology, Biochemistry, PAX8 Transcription Factor, Endocrinology, Genetic linkage, Internal medicine, medicine, Humans, Paired Box Transcription Factors, Euthyroid, Expressivity (genetics), education, Genes, Dominant, Genetics, education.field_of_study, Biochemistry (medical), Nuclear Proteins, medicine.disease, Penetrance, Congenital hypothyroidism, Pedigree, DNA-Binding Proteins, Trans-Activators, Female, hormones, hormone substitutes, and hormone antagonists

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e910d24383a6be5d6ef16e375d3a97dTest
https://pubmed.ncbi.nlm.nih.gov/15870119Test

32

Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor

المؤلفون: Shioko Kimura, Xiao Hui Liao, Lars C. Moeller, Takashi Kusakabe, Jacqueline Van Sande, Samuel Refetoff

المصدر: Molecular endocrinology (Baltimore, Md.). 17(11)

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Adolescent, Thyroid Transcription Factor 1, Thyroid Nuclear Factor 1, Thyrotropin, Biology, Thyroid Function Tests, Thyrotropin receptor, Mice, Endocrinology, Hypothyroidism, Internal medicine, medicine, Animals, Humans, RNA, Messenger, Child, Molecular Biology, Transcription factor, Mice, Knockout, Messenger RNA, Base Sequence, Thyroid, Infant, Newborn, Infant, Nuclear Proteins, Liter, Receptors, Thyrotropin, General Medicine, Thyroid stimulating hormone receptor, medicine.anatomical_structure, Phenotype, Child, Preschool, Female, Haploinsufficiency, hormones, hormone substitutes, and hormone antagonists, Gene Deletion, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea2668d0719bd478d9aa881f9436e2bTest
https://pubmed.ncbi.nlm.nih.gov/12907760Test

33

A conserved Asn in TM7 of the thyrotropin receptor is a common requirement for activation by both mutations and its natural agonist

المؤلفون: Leonardo Pardo, Gilbert Vassart, Cédric Govaerts, Sabine Costagliola, Anne Lefort, Sylvie Claeysen, Jacqueline Van Sande

المساهمون: Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université libre de Bruxelles (ULB), University of California [San Francisco] (UCSF), University of California, Universitat Autònoma de Barcelona (UAB), S. Claeysen is a fellow of Francqui Foundation. This study was supported by the Belgian State, Prime Minister's office, Service for Sciences, Technology and Culture. Also supported by grants from the FRSM, FNRS and Association Recherche Biomédicale et Diagnostic.

المصدر: FEBS Letters
FEBS Letters, Wiley, 2002, 517 (1-3), pp.195-200. ⟨10.1016/s0014-5793(02)02620-0⟩

مصطلحات موضوعية: Agonist, Protein Conformation, medicine.drug_class, Mutant, Biophysics, Thyrotropin, Biology, natural mutations, Biochemistry, Thyrotropin receptor, 03 medical and health sciences, Structural Biology, Chlorocebus aethiops, Cyclic AMP, Genetics, medicine, Animals, Natural mutation, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, G protein-coupled receptor, Binding site, Receptor, Molecular Biology, constitutive activity, Thyroid-Stimulating Hormone receptor, 030304 developmental biology, 0303 health sciences, Binding Sites, Membrane Glycoproteins, COS cells, 030302 biochemistry & molecular biology, Receptors, Thyrotropin, Cell Biology, activation mechanism, Cell biology, Hormone receptor, COS Cells, Mutagenesis, Site-Directed, Asparagine, G Protein Coupled Receptor