Zobrazeno 1 - 10
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pro vyhledávání: '"M. L. Sobrier"'
Autor:
A, Pham, C, Selenou, E, Giabicani, V, Fontaine, S, Marteau, F, Brioude, L, David, D, Mitanchez, M L, Sobrier, I, Netchine
Publikováno v:
Clinical Epigenetics. 14
Background Parental imprinting is an epigenetic mechanism that leads to monoallelic expression of a subset of genes depending on their parental origin. Imprinting disorders (IDs), caused by disturbances of imprinted genes, are a set of rare congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db30835e9245cff837c75dd1137743e4
https://doi.org/10.1186/s13148-022-01410-8
https://doi.org/10.1186/s13148-022-01410-8
Akademický článek
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Autor:
Serge Amselem, F Dastol, Philippe Duquesnoy, M-L Sobrier, Michel Goossens, Bénédicte Duriez, S Vallex
Publikováno v:
Human Molecular Genetics. 2:355-359
Laron syndrome is an autosomul recessive growth resistance condition genetically linked to the growth hormone receptor (GHR) gene. In the course of an IGF-1 therapeutic trial, we have analyzed 15 unrelated patients from various ethnic origins by mean
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0871bd87697876e1e66489f25c17d9d
https://doi.org/10.1093/hmg/2.4.355
https://doi.org/10.1093/hmg/2.4.355
Akademický článek
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Akademický článek
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Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ddb62df268d8d92b1e1523807dd432a0
https://pubmed.ncbi.nlm.nih.gov/10904717
https://pubmed.ncbi.nlm.nih.gov/10904717
Publikováno v:
The Journal of clinical endocrinology and metabolism. 82(10)
The detection of pituitary stalk interruption syndrome (PSIS) by magnetic resonance imaging is a diagnostic marker of permanent GH deficiency (GHD), but the pathogenesis of PSIS is unknown. Fifty-one patients (27 males) with GHD and PSIS were classif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::597e9e655f96792ad1c9fb88ebbc6458
https://pubmed.ncbi.nlm.nih.gov/9329385
https://pubmed.ncbi.nlm.nih.gov/9329385
Publikováno v:
The Journal of clinical endocrinology and metabolism. 82(2)
The GH receptor (GHR) is a member of the cytokine receptor superfamily; GH binding protein is the solubilized extracellular domain of the GHR. Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::608fd4dce553a2e05d04e940cba82397
https://pubmed.ncbi.nlm.nih.gov/9024232
https://pubmed.ncbi.nlm.nih.gov/9024232
Autor:
Philippe Duquesnoy, Michel Goossens, Florence Dastot, M.A. Preece, M-L Sobrier, C.R. Buchanan, Bénédicte Duriez, C.T. Craescu, M.O. Savage, Yves Blouquit
Growth hormone (GH) elicits a variety of biological activities mainly mediated by the GH receptor (GHR), a transmembrane protein that, based on in vitro studies, seemed to function as a homodimer. To test this hypothesis directly, we investigated pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01fc7bb78ae067c1c86ef84cb66d0ce3
https://europepmc.org/articles/PMC394956/
https://europepmc.org/articles/PMC394956/
Publikováno v:
Insect Molecular Biology
Insect Molecular Biology, Wiley, 1993, 2 (1), pp.39-48. ⟨10.1111/j.1365-2583.1993.tb00124.x⟩
Insect Molecular Biology, 1993, 2 (1), pp.39-48. ⟨10.1111/j.1365-2583.1993.tb00124.x⟩
Insect Molecular Biology, Wiley, 1993, 2 (1), pp.39-48. ⟨10.1111/j.1365-2583.1993.tb00124.x⟩
Insect Molecular Biology, 1993, 2 (1), pp.39-48. ⟨10.1111/j.1365-2583.1993.tb00124.x⟩
In Drosophila Kc cells, the 60C beta3 tubulin transcription unit, whose expression is induced by 20-hydroxyecdysone (20-OHE), has the same structure as in Drosophila. This gene is characterized by an unusual 5' intron of regulating importance, by an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ff0bdd208690146e8c15e86f39ad1d
https://hal.inrae.fr/hal-02939583
https://hal.inrae.fr/hal-02939583