50 results on '"Magré, Jocelyne"'
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2. La vie sans tissu adipeux : les lipodystrophies généralisées congénitales ; causes, physiopathologie et prise en charge thérapeutique
3. Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
4. Function of seipin: New insights from Bscl2/seipin knockout mouse models
5. Seipin regulates ER–lipid droplet contacts and cargo delivery
6. Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
7. Molecular mechanisms of human lipodystrophies: From adipocyte lipid droplet to oxidative stress and lipotoxicity
8. Not Enough Fat: Mouse Models of Inherited Lipodystrophy
9. Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease
10. Congenital Lipodystrophies and Dyslipidemias
11. Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia
12. Seipin deficiency alters fatty acid Δ9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy
13. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
14. Correction to:Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? (European Journal of Pediatrics, (2015), 174, 7, (975-980), 10.1007/s00431-015-2556-y)
15. Human Lipodystrophies: Genetic and Acquired Diseases of Adipose Tissue
16. Les syndromes lipodystrophiques : des adipopathies congénitales ou acquises
17. Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
18. Higher Adiponectin Levels in Patients with Berardinelli-Seip Congenital Lipodystrophy due to Seipin as compared with 1-Acylglycerol-3-Phosphate-O-Acyltransferase-2 Deficiency
19. Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
20. Leptin therapy for partial lipodystrophy linked to a PPAR-γ mutation
21. Genetic and acquired lipodystrophies: from fat redistribution to insulin resistance and aging
22. Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil
23. Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies
24. Molecular Analysis of Berardinelli-Seip Congenital Lipodystrophy in Oman: Evidence for Multiple Loci
25. Lamin A/C Gene: Sex-Determined Expression of Mutations in Dunnigan-Type Familial Partial Lipodystrophy and Absence of Coding Mutations in Congenital and Acquired Generalized Lipoatrophy
26. Chronic O-GlcNAcylation and Diabetic Cardiomyopathy: The Bitterness of Glucose
27. Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
28. Hormonal Receptor Plasticity in the Brain as Shown by In Vitro Quantitative Autoradiography
29. The Sodium–Glucose Cotransporter 2 Inhibitor Dapagliflozin Prevents Cardiomyopathy in a Diabetic Lipodystrophic Mouse Model
30. FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency
31. Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency
32. Stearoyl CoA desaturase 1 (SCD1) and Seipin: Important players in hepatic steatosis?
33. Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
34. Enfin un gène pour la lipodystrophie congénitale de Berardinelli-Seip
35. Syndromes d’insulino-resistance majeure : clinique et physiopathologie
36. Insulin Induction of Protein Kinase Cα Expression Is Independent of Insulin Receptor Tyr1162/1163 Residues and Involves Mitogen-Activated Protein Kinase Kinase 1 and Sustained Activation of Nuclear p44MAPK*
37. Human Hormone-Sensitive Lipase: Genetic Mapping, Identification of a New Dinucleotide Repeat, and Association With Obesity and NIDDM
38. Dominant Transmission of Insulin Resistance in a Type A Family Resulting From a Heterozygous Nonsense Mutation in the Insulin Receptor Gene and Associated With Decreased mRNA Level and Insulin Binding Sites
39. Genetic Exclusion of 14 Candidate Genes in Lipoatropic Diabetes Using Linkage Analysis in 10 Consanguineous Families1
40. Major Circadian Variations of Glucose Homeostasis in a Patient with Rabson-Mendenhall Syndrome and Primary Insulin Resistance Due to a Mutation(Cys284 → Tyr) in the Insulin Receptor α-Subunit
41. Mécanismes moléculaires et cellulaires de l'action de l'insuline. Application à la physiologie et à la pathologie
42. Insulin receptor autophosphorylation sites tyrosinea 1162 and 1163 control both insulin-dependent and insulin-independent receptor internalization pathways
43. Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis
44. Mutation of Tyrosine Residues 1162 and 1163 of the Insulin Receptor Affects Hormone and Receptor Internalization
45. Identification of the gene altered in Berardinelli?Seip congenital lipodystrophy on chromosome 11q13.
46. In vitro studies of insulin resistance in patients with lipoatrophic diabetes. Evidence for heterogeneous postbinding defects.
47. Major Circadian Variations of Glucose Homeostasis in a Patient with Rabson-Mendenhall Syndrome and Primary Insulin Resistance Due to a Mutation(Cys284→ Tyr) in the Insulin Receptor α-Subunit
48. Major Circadian Variations of Glucose Homeostasis in a Patient with Rabson-Mendenhall Syndrome and Primary Insulin Resistance Due to a Mutation(Cys284? Tyr) in the Insulin Receptor a-Subunit
49. Tyrosine-Kinase Defect of the Insulin Receptor in Cultured Fibroblasts from Patients with Lipoatropic Diabetes*
50. Evidence for the localization of 5HT1A binding sites on serotonin containing neurons in the raphe dorsalis and raphe centralis nuclei of the rat brain
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