Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Nadia Coudray"'
Autor:
Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Marie-Laure Kottler
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism. Patients may present with h
Externí odkaz:
https://doaj.org/article/1aa029400b4e4ef987c1856815b470cc
Autor:
Marie-Laure Kottler, Matthieu Decamp, Nadia Coudray, Céline Ballandonne, Claire Bracquemart, Cindy Colson, Nicolas Gruchy, Hervé Mittre, Arnaud Molin, Harald Jüppner, Rieko Takatani, Nicolas Richard
Publikováno v:
BONE
BONE, Elsevier, 2019, 123, pp.145-152. ⟨10.1016/j.bone.2019.03.023⟩
BONE, Elsevier, 2019, 123, pp.145-152. ⟨10.1016/j.bone.2019.03.023⟩
International audience; Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. PHP1B can follow an autosomal dominant mode of inheritance or occur sporadically (spor-PHP1B). These latter patients p
Autor:
Arnaud Molin, Nicolas Gruchy, Sylvie Paulien, Hervé Mittre, Sophie Naudion, Justine Bacchetta, Nicolas Richard, Laurence Faivre, Marion Gérard, Elise Schaefer, Sylvie Odent, Sarah Snanoudj, Marie-Laure Kottler, Bénédicte Demeer, Nadia Coudray, Cindy Colson, Alice Goldenberg
Publikováno v:
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
International audience; Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df982f6d6a0d3f76074da646d62ba810
https://hal.archives-ouvertes.fr/hal-02434917
https://hal.archives-ouvertes.fr/hal-02434917
Autor:
Nicolas Richard, Martin Kaufmann, Arnaud Wiedemann, Marie-Laure Kottler, Arthur Sorlin, Nick Demers, François Feillet, Georges Weryha, Hervé Mittre, Nadia Coudray, Jérémy Do Cao, Genevieve Abeguile, Brigitte Dousset, Arnaud Molin, Laurent Mainard, Glenville Jones, Pierre Journeau
Publikováno v:
Journal of Bone and Mineral Research. 32:1893-1899
Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of
Autor:
Nadia Coudray, Genevieve Abeguile, Mireille Castanet, Marie-Laure Kottler, Philippe Eckart, Arnaud Molin, Hervé Mittre, Nicolas Richard, Marie Nowoczyn, Celine Ballandone
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩
International audience; Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)2D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hype
Autor:
Arnaud Molin, Nicolas Richard, Harald Jüppner, Marie-Laure Kottler, Nadia Coudray, Pauline Rault-Guillaume
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 98:E1549-E1556
Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited. Recent studies have suggest
Autor:
P. Eckart, Georges Deschênes, Glenville Jones, Justine Bacchetta, Martin Kaufmann, M. Wraich, Nicolas Richard, Arnaud Molin, Amélie Ryckewaert, Jean-Claude Souberbielle, Marie-Christine Vantyghem, R. Baudoin, Q. Bonafiglia, Nadia Coudray, A. Tiulpakov, G. Kesler-Roussey, Marie-Laure Kottler
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2015, 100 (10), pp.E1343-E1352. ⟨10.1210/jc.2014-4387⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2015, 100 (10), pp.E1343-E1352. ⟨10.1210/jc.2014-4387⟩
Loss-of-function mutations of CYP24A1 (which encodes the 25-OH-D3-24-hydroxylase) have recently been reported to cause hypercalcemia.The aims of this study were: 1) to evaluate the frequency of CYP24A1 mutations in patients with medical history of hy
Autor:
Nicolas Gruchy, Genevieve Abeguile, Marie-Laure Kottler, Hervé Mittre, Nadia Coudray, Joris Andrieux, Pascal Cathebras, Nicolas Richard
Publikováno v:
The Journal of clinical endocrinology and metabolism. 97(5)
Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH, leading to hypocalcemia and hyperphosphatemia. PHP-1b is an imprinted human disorder associated with methylation changes at one or several differentially methylate