Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Lydie Da Costa"'
Autor:
Noémi B. A. Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria del Mar Mañú-Pereira, Elisa Fermo, Immacolata Andolfo, Barnaby Clark, Melanie Proven, Mayka Sanchez, Richard van Wijk, Bert van der Zwaag, Mark Layton, David Rees, Achille Iolascon, on behalf of the British Society for Haematology and the European Hematology Association
Publikováno v:
HemaSphere, Vol 6, Iss 6, p e739 (2022)
Externí odkaz:
https://doaj.org/article/9374bbd49e7c4657be3e9a7c2dd0e7d2
Autor:
Jean-Philippe Bertocchio, Sandrine Genetet, Lydie Da Costa, Stephen B. Walsh, Bertrand Knebelmann, Julie Galimand, Lucie Bessenay, Corinne Guitton, Renaud De Lafaille, Rosa Vargas-Poussou, Dominique Eladari, Isabelle Mouro-Chanteloup
Publikováno v:
Kidney International Reports, Vol 5, Iss 3, Pp 348-357 (2020)
Introduction: Anion exchanger 1 (AE1) (SLC4A1 gene product) is a membrane protein expressed in both kidney and red blood cells (RBCs): it exchanges extracellular bicarbonate (HCO3–) for intracellular chloride (Cl–) and participates in acid−base
Externí odkaz:
https://doaj.org/article/79ff7ef222314bfb9509f28ea7aa4c2c
Autor:
Annalisa Lonetti, Valentina Indio, Irma Dianzani, Ugo Ramenghi, Lydie Da Costa, Dagmar Pospíšilová, Anna Rita Migliaccio
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
NR3C1, the gene encoding the glucocorticoid receptor, is polymorphic presenting numerous single nucleotide polymorphisms (SNPs) some of which are emerging as leading cause in the variability of manifestation and/or response to glucocorticoids in huma
Externí odkaz:
https://doaj.org/article/1462818fb870486fb96eee9b1dedf86e
Autor:
Elia Colin, Geneviève Courtois, Chantal Brouzes, Juliette Pulman, Marion Rabant, Agnès Rötig, Hélène Taffin, Mathilde Lion-Lambert, Sylvie Fabrega, Lydie Da Costa, Mariane De Montalembert, Rémi Salomon, Olivier Hermine, Lucile Couronné
Publikováno v:
Haematologica, Vol 106, Iss 12 (2021)
Externí odkaz:
https://doaj.org/article/fe87a5e2aabb4a94bf6c272721a8745e
Autor:
Valentine Brousse, Corinne Pondarre, Manoelle Kossorotoff, Cecile Arnaud, Annie Kamdem, Mariane de Montalembert, Benedicte Boutonnat-Faucher, Slimane Allali, Hélène Bourdeau, Keyne Charlot, Sebastien Bertil, Lydie da Costa, Philippe Connes, David Grévent, Suzanne Verlhac
Publikováno v:
Haematologica, Vol 107, Iss 4 (2021)
Despite its high prevalence in children with sickle cell anemia (SCA), the pathophysiology of silent cerebral infarcts (SCI) remains elusive. The main objective of this study was to explore the respective roles of major determinants of brain perfusio
Externí odkaz:
https://doaj.org/article/968055d9b80d4960b3e0f41232181235
Autor:
Birgit van Dooijeweert, Sima Kheradmand Kia, Niklas Dahl, Odile Fenneteau, Roos Leguit, Edward Nieuwenhuis, Wouter van Solinge, Richard van Wijk, Lydie Da Costa, Marije Bartels
Publikováno v:
Genes, Vol 13, Iss 3, p 447 (2022)
Diamond–Blackfan anemia (DBA) is one of the inherited bone marrow failure syndromes marked by erythroid hypoplasia. Underlying variants in ribosomal protein (RP) genes account for 80% of cases, thereby classifying DBA as a ribosomopathy. In additio
Externí odkaz:
https://doaj.org/article/c9eb054f073e453e9cf6d6da81c238c0
Autor:
Magalie Faivre, Céline Renoux, Amel Bessaa, Lydie Da Costa, Philippe Joly, Alexandra Gauthier, Philippe Connes
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Despite the fact that Red Blood Cells (RBCs) have been intensively studied in the past 50 years to characterize mechanical phenotypes associated with both healthy and pathological states, only ektacytometry (i.e., laser diffractometry) is currently u
Externí odkaz:
https://doaj.org/article/081a79b2997e467099b07b14ffa973e5
Autor:
D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Publikováno v:
Haematologica, Vol 106, Iss 5 (2020)
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Externí odkaz:
https://doaj.org/article/6dcaa279444c45d49f67d28d56e40b5d
Autor:
Valentine Brousse, Corinne Pondarre, Cecile Arnaud, Annie Kamden, Mariane de Montalembert, Benedicte Boutonnat-Faucher, Hélène Bourdeau, Keyne Charlot, David Grévent, Suzanne Verlhac, Lydie da Costa, Philippe Connes
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1, p 133 (2020)
Perceived exertion is an important self-limiting factor influencing functional capacity in patients with sickle cell anemia (SCA). Exercise-related hemoglobin desaturation (EHD) may occur during a six-minute walking test (6MWT) and could influence th
Externí odkaz:
https://doaj.org/article/5c91b21241824fd6ba289748e1e0cd0a
Publikováno v:
F1000Research, Vol 7 (2018)
Diamond–Blackfan anemia (DBA) is a rare congenital hypoplastic anemia characterized by a block in erythropoiesis at the progenitor stage, although the exact stage at which this occurs remains to be fully defined. DBA presents primarily during infan
Externí odkaz:
https://doaj.org/article/1a70fbed50d048859cb4c49536d6488b