Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Marie-Laure Sobrier"'
Autor:
Eloïse Giabicani, Aurélie Pham, Céline Sélénou, Marie-Laure Sobrier, Caroline Andrique, Julie Lesieur, Agnès Linglart, Anne Poliard, Catherine Chaussain, Irène Netchine
Publikováno v:
International Journal of Oral Science, Vol 14, Iss 1, Pp 1-8 (2022)
Abstract Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting diseases are characterized by growth and metabolic issues starting from birth to adulthood. They a
Externí odkaz:
https://doaj.org/article/9a988a1be4c44aa7ba3015d2d49b8cff
Autor:
Aurelie Pham, Delphine Mitanchez, Anne Forhan, Laurence Perin, Yves Le Bouc, Frederic Brioude, Marie-Laure Sobrier, Barbara Heude, Irene Netchine
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Detecting SGA (small for gestational age) during pregnancy improves the fetal and neonatal prognosis. To date, there is no valid antenatal biomarker of SGA used in clinical practice. Maternal circulating DLK1 (delta-like non-canonical notch ligand 1)
Externí odkaz:
https://doaj.org/article/54434e9b12d244b4afc959af61b29a70
Publikováno v:
Cells, Vol 11, Iss 12, p 1886 (2022)
In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2) knockout mouse models, we have learnt much about the structure of this protein, its role and regulation. Indeed, many animal and human studies involv
Externí odkaz:
https://doaj.org/article/a746b99110ee4c9eb8d95958d314f495
Autor:
Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle
Publikováno v:
EBioMedicine, Vol 36, Iss , Pp 390-400 (2018)
Background: Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We aimed to assess their mutation frequency and clinical relevance in children with severe G
Externí odkaz:
https://doaj.org/article/eb38d45a2af84fb1a420e9f01ae4ca4c
Autor:
Keren Borensztajn, Marie-Laure Sobrier, Philippe Duquesnoy, Anne-Marie Fischer, Jacqueline Tapon-Bretaudière, Serge Amselem
Publikováno v:
PLoS Genetics, Vol 2, Iss 9, p e138 (2006)
Splice site selection is a key element of pre-mRNA splicing. Although it is known to involve specific recognition of short consensus sequences by the splicing machinery, the mechanisms by which 5' splice sites are accurately identified remain controv
Externí odkaz:
https://doaj.org/article/4c6bbe7e7c014188a6e4d1c6aad461f0
Autor:
Aurélie Pham, Frédéric Brioude, Marilyne Le Jules Fernandes, Marie-Laure Sobrier, Eloise Giabicani, Irène Netchine, Delphine Mitanchez
Publikováno v:
Eur J Hum Genet
Silver–Russell syndrome (SRS) is a rare imprinting disorder associated with prenatal and postnatal growth retardation. Loss of methylation (LOM) on chromosome 11p15 is observed in 40 to 60% of patients and maternal uniparental disomy (mUPD) for chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f543d2a7a3de94e626ecad1b7bbeb6
https://doi.org/10.1038/s41431-021-00927-5
https://doi.org/10.1038/s41431-021-00927-5
Autor:
Ana Cristina Victorino Krepischi, Vinicius Nahime Brito, Mariana F A Funari, Alexander A. L. Jorge, Carla Rosenberg, Luciana Ribeiro Montenegro, Lucas Santos de Santana, Virginie Steunou, Chong Ae Kim, Lorna C Gilligan, Jan Idkowiak, Francis de Zegher, Ana Pinheiro Machado Canton, Ana Claudia Latronico, Rachel Sayuri Honjo, Berenice B. Mendonca, Marie-Laure Sobrier, Irène Netchine, Silvia Figueiredo Costa, Wiebke Arlt
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
STUDY QUESTION Is there an (epi)genetic basis in patients with central precocious puberty (CPP) associated with multiple anomalies that unmasks underlying mechanisms or reveals novel genetic findings related to human pubertal control? SUMMARY ANSWER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587aa4afb11114d3fd90155d02d81cce
https://pubmed.ncbi.nlm.nih.gov/33313884
https://pubmed.ncbi.nlm.nih.gov/33313884
Autor:
Ana Pinheiro-Machado Canton, Virginie Steunou, Alexander A. L. Jorge, Danielle S Bessa, Berenice B. Mendonca, Marie-Laure Sobrier, Ana Claudia Latronico, Vinicius Nahime Brito, Luciana Ribeiro Montenegro, Irène Netchine, Larissa G. Gomes
Publikováno v:
Journal of the Endocrine Society
Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations affecting mainly the coding region of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc873b81ff23a95f49a83fbfba78c25
https://doi.org/10.1210/jendso/bvaa046.847
https://doi.org/10.1210/jendso/bvaa046.847
Autor:
Merih Berberoğlu, Régis Coutant, Şenay Savaş Erdeve, Cécile Brachet, Caroline Thalassinos, Frédéric Brioude, Michel Polak, Erdal Kurnaz, Sabrina Belkacem, Claudine Heinrichs, Aude Soleyan, Zeynep Şıklar, Nathalie Collot, Philippe Chanson, Jean-Claude Carel, Zehra Aycan, Marie-Laure Sobrier, Serge Amselem, Géraldine Viot, Noureddine Kaffel, Stanislas Lyonnet, Philippe Duquesnoy, Eliane Khallouf, Marie Legendre, Enzo Cohen, Soumeya Fedala, Sophie Rose, Florence Dastot, Frédérique Gatelais
Publikováno v:
Human Mutation
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
International audience; Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013fc4132e589725e8cbefc8344e1c72
https://www.hal.inserm.fr/inserm-03712902/document
https://www.hal.inserm.fr/inserm-03712902/document
Autor:
Marie-Laure Sobrier, Serge Amselem, Heike Pfäffle, Cheri Deal, Charmian A. Quigley, Jurgen Klammt, John S. Parks, Ron G. Rosenfeld, Alan Zimmerman, Roland Pfäffle, Gordon B. Cutler, Marie Legendre, Marie-Pierre Luton, Christine Jones, Werner F. Blum, Christopher J. Child, Jan Lebl
Publikováno v:
EBioMedicine
EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩
EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩
Background: Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We aimed to assess their mutation frequency and clinical relevance in children with severe G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfb5b1181c353f4200992c8440734f3
https://pubmed.ncbi.nlm.nih.gov/30266296
https://pubmed.ncbi.nlm.nih.gov/30266296