Search Results - "Kannengiesser, Caroline"

Somatic genetic rescue in Mendelian haematopoietic diseases by Revy, Patrick, Kannengiesser, Caroline, Fischer, Alain

“…Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing…”
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Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy ( TMEM173 Mutation) by Picard, Cécile, MD, Thouvenin, Guillaume, MD, Kannengiesser, Caroline, MD, PhD, Dubus, Jean-Christophe, MD, PhD, Jeremiah, Nadia, PhD, Rieux-Laucat, Frédéric, PhD, Crestani, Bruno, MD, PhD, Belot, Alexandre, MD, PhD, Thivolet-Béjui, Françoise, MD, PhD, Secq, Véronique, MD, PhD, Ménard, Christelle, Reynaud-Gaubert, Martine, MD, PhD, Reix, Philippe, MD, PhD

“…We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical…”
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The genetics of interstitial lung diseases by Borie, Raphael, Le Guen, Pierre, Ghanem, Mada, Taillé, Camille, Dupin, Clairelyne, Dieudé, Philippe, Kannengiesser, Caroline, Crestani, Bruno

“…Interstitial lung diseases (ILDs) are a set of heterogeneous lung diseases characterised by inflammation and, in some cases, fibrosis. These lung conditions…”
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The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population by Borie, Raphael, Crestani, Bruno, Dieude, Philippe, Nunes, Hilario, Allanore, Yannick, Kannengiesser, Caroline, Airo, Paolo, Matucci-Cerinic, Marco, Wallaert, Benoit, Israel-Biet, Dominique, Cadranel, Jacques, Cottin, Vincent, Gazal, Steven, Peljto, Anna L, Varga, John, Schwartz, David A, Valeyre, Dominique, Grandchamp, Bernard

“…A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with…”
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Iron refractory iron deficiency anemia by De Falco, Luigia, Sanchez, Mayka, Silvestri, Laura, Kannengiesser, Caroline, Muckenthaler, Martina U, Iolascon, Achille, Gouya, Laurent, Camaschella, Clara, Beaumont, Carole

“…Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a…”
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Management of suspected monogenic lung fibrosis in a specialised centre by Borie, Raphael, Kannengiesser, Caroline, Sicre de Fontbrune, Flore, Gouya, Laurent, Nathan, Nadia, Crestani, Bruno

“…At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific…”
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria by Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y, Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

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Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer by Legendre, Marie, Butt, Afifaa, Borie, Raphaël, Debray, Marie-Pierre, Bouvry, Diane, Filhol-Blin, Emilie, Desroziers, Tifenn, Nau, Valérie, Copin, Bruno, Dastot-Le Moal, Florence, Héry, Mélanie, Duquesnoy, Philippe, Allou, Nathalie, Bergeron, Anne, Bermudez, Julien, Cazes, Aurélie, Chene, Anne-Laure, Cottin, Vincent, Crestani, Bruno, Dalphin, Jean-Charles, Dombret, Christine, Doray, Bérénice, Dupin, Clairelyne, Giraud, Violaine, Gondouin, Anne, Gouya, Laurent, Israël-Biet, Dominique, Kannengiesser, Caroline, Le Borgne, Aurélie, Leroy, Sylvie, Longchampt, Elisabeth, Lorillon, Gwenaël, Nunes, Hilario, Picard, Clément, Reynaud-Gaubert, Martine, Traclet, Julie, de Vuyst, Paul, Coulomb L'Hermine, Aurore, Clement, Annick, Amselem, Serge, Nathan, Nadia

“…Interstitial lung diseases (ILDs) can be caused by mutations in the and genes, which encode the surfactant protein (SP) complex SP-A. Only 11 or mutations have…”
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TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region by Pakmanesh, Hamid, Anvari, Omid, Forey, Nathalie, Weiderpass, Elisabete, Malekpourafshar, Reza, Iranpour, Maryam, Shahesmaeili, Armita, Ahmadi, Nahid, Bazrafshan, Azam, Zendehdel, Kazem, Kannengiesser, Caroline, Ba, Ibrahima, McKay, James, Zvereva, Maria, Hosen, Md Ismail, Sheikh, Mahdi, Calvez-Kelm, Florence Le

“…Bladder cancer (BC) is the 10th most common cancer in the world. While there are FDA-approved urinary assays to detect BC, none have demonstrated sufficient…”
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Severe hematologic complications after lung transplantation in patients with telomerase complex mutations by Borie, Raphael, MD, Kannengiesser, Caroline, PharmD, PhD, Hirschi, Sandrine, MD, Le Pavec, Jérôme, MD, PhD, Mal, Hervé, MD, Bergot, Emmanuel, MD, PhD, Jouneau, Stéphane, MD, PhD, Naccache, Jean-Marc, MD, Revy, Patrick, PhD, Boutboul, David, MD, PhD, Peffault de la Tour, Régis, MD, PhD, Wemeau-Stervinou, Lidwine, MD, Philit, Francois, MD, Cordier, Jean-François, MD, Thabut, Gabriel, MD, PhD, Crestani, Bruno, MD, PhD, Cottin, Vincent, MD, PhD

“…Background Mutations in the telomerase complex ( TERT and TR ) are associated with pulmonary fibrosis and frequent hematologic manifestations. The aim of this…”
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Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation by Justet, Aurélien, Thabut, Gabriel, Manali, Effrosyni, Molina Molina, Maria, Kannengiesser, Caroline, Cadranel, Jacques, Cottin, Vincent, Gondouin, Anne, Nunes, Hilario, Magois, Eline, Tromeur, Cécile, Prevot, Grégoire, Papiris, Spyros, Marchand-Adam, Sylvain, Gamez, Anne Sophie, Reynaud-Gaubert, Martine, Wemeau, Lidwine, Crestani, Bruno, Borie, Raphael

“…The most frequent mutations in familial pulmonary fibrosis (FPF) involve genes of the telomerase complex such as TERT, TERC, RTEL1, PARN or DKC1 [1]. Mutations…”
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Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations by Nunes, Hilario, Jeny, Florence, Bouvry, Diane, Picard, Clément, Bernaudin, Jean-François, Ménard, Christelle, Brillet, Pierre-Yves, Kannengiesser, Caroline, Valeyre, Dominique, Kambouchner, Marianne

“…We read with great interest the article by Newton et al. [1]. They found that mutations in the telomere maintenance machinery genes (telomerase reverse…”
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Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis by Borie, Raphael, Kannengiesser, Caroline, Gouya, Laurent, Dupin, Clairelyne, Amselem, Serge, Ba, Ibrahima, Bunel, Vincent, Bonniaud, Philippe, Bouvry, Diane, Cazes, Aurélie, Clement, Annick, Debray, Marie Pierre, Dieude, Philippe, Epaud, Ralph, Fanen, Pascale, Lainey, Elodie, Legendre, Marie, Plessier, Aurélie, Sicre de Fontbrune, Flore, Wemeau-Stervinou, Lidwine, Cottin, Vincent, Nathan, Nadia, Crestani, Bruno

“…Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about…”
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Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes by Sanchez, Manuel, Kannengiesser, Caroline, Hoang, Sophie, Potier, Louis, Fumeron, Frédéric, Venteclef, Nicolas, Scheen, André, Gautier, Jean-François, Hadjadj, Samy, Marre, Michel, Roussel, Ronan, Mohammedi, Kamel, Velho, Gilberto

“…Abstract Background Type 1 diabetes is associated with accelerated vascular aging and advanced atherosclerosis resulting in increased rates of cardiovascular…”
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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) by Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia J., Klaassen, Robert J., Chakraborty, Pranesh, Geraghty, Michael T., Major-Cook, Nathalie, Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Fleming, Mark D., Wynn, Robert F.

“…Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear…”
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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism by Ka, Chandran, Guellec, Julie, Pepermans, Xavier, Kannengiesser, Caroline, Ged, Cécile, Wuyts, Wim, Cassiman, David, de Ledinghen, Victor, Varet, Bruno, de Kerguenec, Caroline, Oudin, Claire, Gourlaouen, Isabelle, Lefebvre, Thibaud, Férec, Claude, Callebaut, Isabelle, Le Gac, Gérald

“…Hemochromatosis type 4 is one of the most common causes of primary iron overload, after -related hemochromatosis. It is an autosomal dominant disorder,…”
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Pneumocystosis revealing immunodeficiency secondary to TERC mutation by Borie, Raphael, Kannengiesser, Caroline, Sicre de Fontbrune, Flore, Boutboul, David, Tabeze, Laure, Brunet-Possenti, Florence, Lainey, Elodie, Debray, Marie Pierre, Cazes, Aurélie, Crestani, Bruno

“…Telomerase-related gene (TRG) mutations are evidenced in about 25% of patients with familial pulmonary fibrosis, and less frequently in sporadic interstitial…”
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Hematologically important mutations: X-linked chronic granulomatous disease (third update) by Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Roesler, Joachim, Lopez, Juan Alvaro, Ariga, Tadashi, Avcin, Tadej, de Boer, Martin, Bustamante, Jacinta, Condino-Neto, Antonio, Di Matteo, Gigliola, He, Jianxin, Hill, Harry R., Holland, Steven M., Kannengiesser, Caroline, Köker, M. Yavuz, Kondratenko, Irina, van Leeuwen, Karin, Malech, Harry L., Marodi, László, Nunoi, Hiroyuki, Stasia, Marie-José, Ventura, Anna Maria, Witwer, Carl T., Wolach, Baruch, Gallin, John I.

“…Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide…”
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Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update) by Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Bustamante, Jacinta, Kannengiesser, Caroline, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Wolach, Baruch, Roesler, Joachim, Malech, Harry L., Holland, Steven M., Gallin, John I., Stasia, Marie-José

“…Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes…”
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Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison by Papiris, Spyros A, Tsirigotis, Panagiotis, Kannengiesser, Caroline, Kolilekas, Lykourgos, Gkirkas, Konstantinos, Papaioannou, Andriana I, Revy, Patrick, Giouleka, Paschalina, Papadaki, Georgia, Kagouridis, Konstantinos, Pappa, Vassiliki, Borie, Raphael, Boileau, Catherine, Bouros, Demosthenes, Crestani, Bruno, Manali, Effrosyni D

“…Previous studies have shown that the co-existence of bone marrow failure and pulmonary fibrosis in a single patient or in a family is suggestive of telomere…”
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