Zobrazeno 1 - 10
of 541
pro vyhledávání: '"Bernard, Grandchamp"'
Autor:
Mélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, Delphine Detaint, Nadine Hanna, Hyacintha d'Indya, Janine-Sophie Lequintrec, Philippe Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean-Pierre Laissy, Pierre Koch, Christine Muti, Joelle Roume, Veronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric LeGuern, Thomas Papo, Catherine Boileau, Guillaume Jondeau
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96387 (2014)
BackgroundSevere osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.MethodsAll SMAD3 gene mutation carriers coming to our centre and thei
Externí odkaz:
https://doaj.org/article/b258039fa84e4152889b19fb87594881
Autor:
Raphael Borie, Bruno Crestani, Philippe Dieude, Hilario Nunes, Yannick Allanore, Caroline Kannengiesser, Paolo Airo, Marco Matucci-Cerinic, Benoit Wallaert, Dominique Israel-Biet, Jacques Cadranel, Vincent Cottin, Steven Gazal, Anna L Peljto, John Varga, David A Schwartz, Dominique Valeyre, Bernard Grandchamp
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e70621 (2013)
A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotyped the MUC5B promoter in the first 142 patients of th
Externí odkaz:
https://doaj.org/article/e4f3f0a63d2a4ce1aad9e5e92605ab27
Autor:
Marie Courbebaisse, Christine Leroy, Naziha Bakouh, Christine Salaün, Laurent Beck, Bernard Grandchamp, Gabrielle Planelles, Randy A Hall, Gérard Friedlander, Dominique Prié
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34764 (2012)
BackgroundThe sodium-hydrogen exchanger regulatory factor 1 (NHERF1) binds to the main renal phosphate transporter NPT2a and to the parathyroid hormone (PTH) receptor. We have recently identified mutations in NHERF1 that decrease renal phosphate reab
Externí odkaz:
https://doaj.org/article/0255d0a5a6ce4c6c89a90858da2ad581
Autor:
Roberto Zanetti, Lydia Deschamps, Lidia Sacchetto, Nadem Soufir, M. Benfodda, Armand Bensussan, Nicole Basset-Seguin, Steven Gazal, Céleste Lebbé, Maria Scatolini, Philippe Saiag, Vincent Descamps, Bernard Grandchamp, Giovanna Chiorino, Luc Thomas
Publikováno v:
Genes, Chromosomes and Cancer. 57:294-303
Genetic predisposition to cutaneous malignant melanoma (CMM) involves highly penetrant predisposing genes and low and intermediate penetrant predisposing alleles. However, the missing heritability in (CMM) is still high. For such and in order to iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4094798162365c1441bee52632f784b9
https://doi.org/10.1002/gcc.22528
https://doi.org/10.1002/gcc.22528
Autor:
Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May
Publikováno v:
Haematologica, Vol 96, Iss 6 (2011)
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-
Externí odkaz:
https://doaj.org/article/9c21bc4fe67449bcaf85e6bfc090a92d
Autor:
Patricia Aguilar-Martinez, Bernard Grandchamp, Séverine Cunat, Estelle Cadet, François Blanc, Marlène Nourrit, Kaiss Lassoued, Jean-François Schved, Jacques Rochette
Publikováno v:
Haematologica, Vol 96, Iss 4 (2011)
Background Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE
Externí odkaz:
https://doaj.org/article/a60284fbab63424ba4f5ec1dc31e33cd
Autor:
Carole Brasse-Lagnel, Maura Poli, Céline Lesueur, Bernard Grandchamp, Alain Lavoinne, Carole Beaumont, Soumeya Bekri
Publikováno v:
Haematologica, Vol 95, Iss 12 (2010)
Background Hemojuvelin, a critical regulator of iron homeostasis, is involved in the regulation of hepcidin expression and iron homeostasis. It is expressed both as a membrane-bound form and as a soluble one. Serum hemojuvelin can be produced by secr
Externí odkaz:
https://doaj.org/article/2ef425fbd20b45b0be6b9c9ba5128953
Autor:
Caroline Kannengiesser, Anne-Marie Jouanolle, Gilles Hetet, Annick Mosser, Françoise Muzeau, Dominique Henry, Edouard Bardou-Jacquet, Martine Mornet, Pierre Brissot, Yves Deugnier, Bernard Grandchamp, Carole Beaumont
Publikováno v:
Haematologica, Vol 94, Iss 3 (2009)
Background Elevated serum ferritin levels are frequently encountered in clinical situations and once iron overload or inflammation has been ruled out, many cases remain unexplained. Genetic causes of hyperferritinemia associated to early cataract inc
Externí odkaz:
https://doaj.org/article/06c64fc91f304069becefeb258335c2d
Autor:
Gloria Ribas, Rajesh Kumar, Nicole Basset-Seguin, P. Sivaramakishna Rachkonda, Soufir Nadem, Steven Gazal, Matías Mayor, Vincent Descamps, M. Benfodda, Eduardo Nagore, Philippe Saiag, Dirk Schadendorf, Mickaël Guedj, Martine Bagot, Armand Bensussan, Manuel Martin-Gonzalez, Bernard Grandchamp, Hui-Han Hu, Maider Ibarrola-Villava, Jian Guan
Publikováno v:
International Journal of Cancer. 136:2109-2119
Multifactorial predisposition to melanoma includes genes involved in pigmentation, immunity and DNA repair. Nonetheless, missing heritability in melanoma is still important. We studied the role of 335 candidate SNPs in melanoma susceptibility by usin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1a6d91b4c466cd549acbd308931ddc9
https://doi.org/10.1002/ijc.29257
https://doi.org/10.1002/ijc.29257
Autor:
Katell Peoc'h, Joëlle Marie, Carole Beaumont, Bernard Grandchamp, Hervé Puy, Zoubida Karim, Caroline Schmitt, Jean-Charles Deybach, Laurent Gouya, Hubert de Verneuil, François Moreau-Gaudry, Arienne Mirmiran, Said Lyoumi, Rima Soaid, Véronique Guyonnet-Dupérat, Vincent Oustric, Sarah Ducamp, Hana Manceau
Publikováno v:
The American Journal of Human Genetics. 94:611-617
In 90% of people with erythropoietic protoporphyria (EPP), the disease results from the inheritance of a common hypomorphic FECH allele, encoding ferrochelatase, in trans to a private deleterious FECH mutation. The activity of the resulting FECH enzy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a41ebf4b53c3f5c1c1bc94b847871b0
https://doi.org/10.1016/j.ajhg.2014.02.010
https://doi.org/10.1016/j.ajhg.2014.02.010