Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Renata, Kozyraki"'
Autor:
Cláudio Rodrigues Rezende Costa, Rym Chalgoumi, Amina Baker, Clément Guillou, Paulo Marcio Yamaguti, Victor Simancas Escorcia, Lilia Abbad, Bruna Rabelo Amorin, Caroline Lourenço de Lima, Vidjea Cannaya, Mourad Benassarou, Ariane Berdal, Christos Chatziantoniou, Olivier Cases, Pascal Cosette, Renata Kozyraki, Ana Carolina Acevedo
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-24 (2024)
Abstract Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the
Externí odkaz:
https://doaj.org/article/9aa2eb1bfd614d948b1a01bc52bdd27a
Autor:
Alban Desoutter, Olivier Cases, Pierre Yves Collart Dutilleul, Victor Simancas Escorcia, Vidjea Cannaya, Frédéric Cuisinier, Renata Kozyraki
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Enamel Renal Syndrome (ERS) is a rare genetic disorder caused by biallelic mutations in Family with sequence similarity 20A (FAM20A) gene encoding the secretory pathway pseudokinase FAM20A. ERS is characterized by hypoplastic amelogenesis imperfecta
Externí odkaz:
https://doaj.org/article/d59d52c65fbe42bab538f7bb319d6f36
Autor:
Victor Simancas Escorcia, Clément Guillou, Lilia Abbad, Louise Derrien, Claudio Rodrigues Rezende Costa, Vidjea Cannaya, Mourad Benassarou, Christos Chatziantoniou, Ariane Berdal, Ana Carolina Acevedo, Olivier Cases, Pascal Cosette, Renata Kozyraki
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
The enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis imperfecta, gingival fibromatosis and nephrocalcinosis. ERS is caused by bi-allelic mutations in the secretory pathway pseudokinase FAM20A. How mutations in FAM20A may modify
Externí odkaz:
https://doaj.org/article/ba501b066ef74343a191805841009ed8
Autor:
Victor Simancas Escorcia, Abdoulaziz Diarra, Adrien Naveau, Arnaud Dessombz, Rufino Felizardo, Vidjeacoumary Cannaya, Christos Chatziantoniou, Mickaël Quentric, Miikka Vikkula, Olivier Cases, Ariane Berdal, Muriel De La Dure-Molla, Renata Kozyraki
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in FAM20A (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed
Externí odkaz:
https://doaj.org/article/406c84b6f3bc4895964e613dd15074e0
Autor:
Guilhem Lignon, Fleur Beres, Mickael Quentric, Stephan Rouzière, Raphael Weil, Muriel De La Dure-Molla, Adrien Naveau, Renata Kozyraki, Arnaud Dessombz, Ariane Berdal
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of ename
Externí odkaz:
https://doaj.org/article/acf8b6b1584e4edc9845bf93a9d70eb4
Publikováno v:
Vitamins and Hormones ISBN: 9780323992237
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c0b235d8b5c114ea724efbe5d5a2890
https://doi.org/10.1016/bs.vh.2022.01.005
https://doi.org/10.1016/bs.vh.2022.01.005
Autor:
Olivier Cases, Antoine Joseph, Antoine Obry, Mathieu D Santin, Sirine Ben-Yacoub, Michel Pâques, Sabine Amsellem-Levera, Ana Bribian, Manuel Simonutti, Sébastien Augustin, Thomas Debeir, José Alain Sahel, Annabel Christ, Fernando de Castro, Stéphane Lehéricy, Pascal Cosette, Renata Kozyraki
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129518 (2015)
Myopia is a common ocular disorder generally due to increased axial length of the eye-globe. Its extreme form high myopia (HM) is a multifactorial disease leading to retinal and scleral damage, visual impairment or loss and is an important health iss
Externí odkaz:
https://doaj.org/article/7cb50aef3a594c39b4e88744e38346f4
Autor:
Vincent Lelievre, Olivier Cases, Jérôme Collignon, Anna-Katerina Hadjantonakis, Renata Kozyraki, Aitana Perea-Gomez, Maria V. Pulina
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-46559-0⟩
Scientific Reports, 2019, 9 (1), pp.10168. ⟨10.1038/s41598-019-46559-0⟩
Scientific Reports, Nature Publishing Group, 2019, 9 (1), pp.10168. ⟨10.1038/s41598-019-46559-0⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-46559-0⟩
Scientific Reports, 2019, 9 (1), pp.10168. ⟨10.1038/s41598-019-46559-0⟩
Scientific Reports, Nature Publishing Group, 2019, 9 (1), pp.10168. ⟨10.1038/s41598-019-46559-0⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
The visceral endoderm is a polarized epithelial monolayer necessary for early embryonic development in rodents. A key feature of this epithelium is an active endocytosis and degradation of maternal nutrients, in addition to being the source of variou
Autor:
Fabiano Montiani-Ferreira, Takeshi Yoshida, Natsuko Nagaoka, Tae Yokoi, Kritchai Vutipongsatorn, Koju Kamoi, Shintaro Horie, Jost B. Jonas, Kengo Uramoto, Simon M. Petersen-Jones, Laurence M. Occelli, Olivier Cases, Akira Hirata, Kyoko Ohno-Matsui, Renata Kozyraki
Publikováno v:
RETINA
RETINA, Lippincott, Williams & Wilkins, 2019, 39 (4), pp.621-635. ⟨10.1097/IAE.0000000000002426⟩
RETINA, Lippincott, Williams & Wilkins, 2019, 39 (4), pp.621-635. ⟨10.1097/IAE.0000000000002426⟩
To analyze the hallmark features of pathologic myopia developed in animal models and compare them with those seen in patients.A literature review was performed to identify animal models that exhibited key features of pathologic myopia, namely posteri
Autor:
Renata Kozyraki, Olivier Cases
Publikováno v:
Current Medicinal Chemistry
Current Medicinal Chemistry, Bentham Science Publishers, 2020, 27 (19), pp.3123-3150. ⟨10.2174/0929867325666181008143945⟩
Current Medicinal Chemistry, Bentham Science Publishers, 2018, 25, ⟨10.2174/0929867325666181008143945⟩
Current Medicinal Chemistry, Bentham Science Publishers, 2020, 27 (19), pp.3123-3150. ⟨10.2174/0929867325666181008143945⟩
Current Medicinal Chemistry, Bentham Science Publishers, 2018, 25, ⟨10.2174/0929867325666181008143945⟩
Gp280/Intrinsic factor-vitamin B12 receptor/Cubilin (CUBN) is a large endocytic receptor serving multiple functions in vitamin B12 homeostasis, renal reabsorption of protein or toxic substances including albumin, vitamin D-binding protein or cadmium.