Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

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

Pseudo-hypoparathyroïdie et ses variants

Autor: Marie-Laure Kottler

Publikováno v: médecine/sciences. 38:655-662

Les pseudohypoparathyroïdies (PHP) sont des maladies rares, caractérisées par une résistance à l’action rénale de la parathormone. Le défaut génétique est localisé au locus GNAS, qui code la sous-unité alpha stimulatrice des protéines G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52e0ff64eed5697a4c2aae2ff7fea2b0
https://doi.org/10.1051/medsci/2022103

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

Autor: Marie Laure Kottler, Slawomir Wolczynski, Geneviève Abeguile, Cyril Eboue, Naama Marcus-Braun, Monika Zbucka-Kretowska, Peter Von Theobald

Publikováno v: Folia Histochemica et Cytobiologica, Vol 49, Iss 3, Pp 521-527 (2011)

The precise role of estrogen in the pathogenesis of pelvic organ prolapse (POP) is still unclear, while the results concerning the effect of selective estrogen receptor modulators on pelvic organ prolapse are contradictory. Our aim was to test whethe

Externí odkaz: https://doaj.org/article/0ea660b828ae4b139c24413d41f37ace

Maternal transmission ratio distortion of GNAS loss‐of‐function mutations

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⟩

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

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0775581cdc0b30beefd8e5fa144e0b72
https://doi.org/10.1002/jbmr.3181