2 results match your criteria: "Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286[Affiliation]"
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
Eur J Endocrinol
June 2016
Aix-Marseille UniversitéCNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, FranceDepartment of EndocrinologyAPHM, Hôpital La Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, 13385 cedex 5 Marseille, FranceCentre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY13385 cedex 15 Marseille, FranceAPHMHôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, 13385 cedex 5 Marseille, FranceAPHMHôpital de la Conception, Laboratoire de Biologie Moléculaire, 13005 Marseille, France Aix-Marseille UniversitéCNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, FranceDepartment of EndocrinologyAPHM, Hôpital La Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, 13385 cedex 5 Marseille, FranceCentre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY13385 cedex 15 Marseille, FranceAPHMHôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, 13385 cedex 5 Marseille, FranceAPHMHôpital de la Conception, Laboratoire de Biologie Moléculaire, 13005 Marseille, France Aix-Marseille UniversitéCNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, FranceDepartment of EndocrinologyAPHM, Hôpital La Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, 13385 cedex 5 Marseille, FranceCentre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY13385 cedex 15 Marseille, FranceAPHMHôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, 13385 cedex 5 Marseille, FranceAPHMHôpital de la Conception, Laboratoire de Biologie Moléculaire, 13005 Marseille, France
Article Synopsis
- Over the past 5 years, new factors related to the development of combined pituitary hormone deficiency (CPHD) have been discovered, including specific glycoproteins, GPCRs, transcription factors, and signaling molecules.
- New genetic inheritance patterns have been identified for these transcription factor mutations, suggesting a broader range of influences on CPHD than previously understood.
- The findings indicate that previously identified genetic factors may contribute to a variety of conditions beyond their known specific phenotypes, highlighting the complexity of diagnosing and understanding these diseases.
Combined pituitary hormone deficiency: current and future status.
J Endocrinol Invest
January 2015
Aix-Marseille Université, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, cedex 15, 13344, Marseille, France.
Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a well-defined phenotype without extra-pituitary malformation, several other genetic defects of transcription factors have been reported with variable degrees of phenotype-genotype correlations. However, to date, despite the identification of an increased number of genetic causes of isolated or multiple pituitary deficiencies, the etiology of most (80-90 %) congenital cases of hypopituitarism remains unsolved.
View Article and Find Full Text PDF