Search Results - "Mendola, Antonella"

Somatic Activating PIK3CA Mutations Cause Venous Malformation by Limaye, Nisha, Kangas, Jaakko, Mendola, Antonella, Godfraind, Catherine, Schlögel, Matthieu J., Helaers, Raphael, Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka

“…Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2, cause more than half of sporadically occurring unifocal venous…”
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Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma by Galot, Rachel, van Marcke, Cédric, Helaers, Raphaël, Mendola, Antonella, Goebbels, Rose-Marie, Caignet, Xavier, Ambroise, Jérôme, Wittouck, Kyril, Vikkula, Miikka, Limaye, Nisha, Machiels, Jean-Pascal H.

“…•ctDNA detection using targeted sequencing is feasible in metastatic HNSCC.•Targeted cfDNA sequencing does not reflect the complete mutation profile of a…”
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CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis by Khoury, Elsa, Maalouf, Hiba, Mendola, Antonella, Boutry, Simon, Camboni, Alessandra, D’Angiolella, Vincenzo, Choquet, Sylvain, Landman‐Parker, Judith, Besson, Caroline, Poirel, Hélène A., Limaye, Nisha

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Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects by Boscolo, Elisa, Limaye, Nisha, Huang, Lan, Kang, Kyu-Tae, Soblet, Julie, Uebelhoer, Melanie, Mendola, Antonella, Natynki, Marjut, Seront, Emmanuel, Dupont, Sophie, Hammer, Jennifer, Legrand, Catherine, Brugnara, Carlo, Eklund, Lauri, Vikkula, Miikka, Bischoff, Joyce, Boon, Laurence M

“…Venous malformations (VMs) are composed of ectatic veins with scarce smooth muscle cell coverage. Activating mutations in the endothelial cell tyrosine kinase…”
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RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation by Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J., Irvine, Alan D., Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R., Burrows, Patricia E., Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K., Wilson, Ashley, Gardiner, Carol A., Dwight, Yim, Lord, David J.E., Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria del C., Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E., Salhi, Aicha, Tan, Oon T., Wargon, Orli, Mulliken, John B., Vikkula, Miikka

“…ABSTRACT Capillary malformation–arteriovenous malformation (CM–AVM) is an autosomal‐dominant disorder, caused by heterozygous RASA1 mutations, and manifesting…”
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Tumour-agnostic plasma assay for circulating tumour DNA predicts outcome in recurrent and/or metastatic squamous cell carcinoma of the head and neck treated with a PD-1 inhibitor by Honoré, Natasha, van der Elst, Athenaïs, Dietz, Anna, van Marcke, Cédric, Helaers, Raphael, Mendola, Antonella, Dahou, Hajar, Marbaix, Etienne, Poncin, Renaud, Seront, Emanuel, Schmitz, Sandra, Limaye, Nisha, Galot, Rachel, Machiels, Jean-Pascal

“…BACKGROUNDOnly 15-20% of recurrent and/or metastatic squamous cell carcinoma of the head and neck (R/M SCCHN) patients derive long-term benefit from nivolumab…”
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Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB by Uebelhoer, Melanie, Nätynki, Marjut, Kangas, Jaakko, Mendola, Antonella, Nguyen, Ha-Long, Soblet, Julie, Godfraind, Catherine, Boon, Laurence M, Eklund, Lauri, Limaye, Nisha, Vikkula, Miikka

“…Mutations in the endothelial cell (EC) tyrosine kinase receptor TIE2 cause inherited and sporadic forms of venous malformation. The recurrent somatic mutation…”
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Tumor microenvironment modifications induced by afatinib in squamous cell carcinoma of the head and neck - a window-of-opportunity study (EORTC90111-24111) by Beyaert, Simon P, Loriot, Axelle E, Huyghe, Nicolas D, Goebbels, Rose M, Mendola, Antonella, Govaerts, Anne-Sophie, Fortpied, Catherine, Baldin, Pamela, Licitra, Lisa F, Lalami, Yassine, Clement, Paul M, Machiels, Jean-Pascal H, Schmitz, Sandra

“…The EORTC-90111-24111 phase II window study evaluated afatinib versus no preoperative treatment in patients with primary squamous cell carcinoma of the head…”
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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy by Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve

“…We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial…”
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Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas by Yao, Li, Schiavi, Francesca, Cascon, Alberto, Qin, Yuejuan, Inglada-Pérez, Lucia, King, Elizabeth E, Toledo, Rodrigo A, Ercolino, Tonino, Rapizzi, Elena, Ricketts, Christopher J, Mori, Luigi, Giacchè, Mara, Mendola, Antonella, Taschin, Elisa, Boaretto, Francesca, Loli, Paola, Iacobone, Maurizio, Rossi, Gian-Paolo, Biondi, Bernadette, Lima-Junior, José Viana, Kater, Claudio E, Bex, Marie, Vikkula, Miikka, Grossman, Ashley B, Gruber, Stephen B, Barontini, Marta, Persu, Alexandre, Castellano, Maurizio, Toledo, Sergio P. A, Maher, Eamonn R, Mannelli, Massimo, Opocher, Giuseppe, Robledo, Mercedes, Dahia, Patricia L. M

“…CONTEXT: Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest–derived neoplasms. We recently identified germline mutations of the…”
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Preclinical Evaluation of the Association of the Cyclin-Dependent Kinase 4/6 Inhibitor, Ribociclib, and Cetuximab in Squamous Cell Carcinoma of the Head and Neck by van Caloen, Gabrielle, Schmitz, Sandra, van Marcke, Cédric, Caignet, Xavier, Mendola, Antonella, Pyr Dit Ruys, Sébastien, Roger, Pierre P, Vertommen, Didier, Machiels, Jean-Pascal

“…Epidermal growth factor receptor (EGFR) overexpression is observed in 90% of human papillomavirus (HPV)-negative squamous cell carcinomas of the head and neck…”
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STK39 and WNK1 Are Potential Hypertension Susceptibility Genes in the BELHYPGEN Cohort by Persu, Alexandre, Evenepoel, Lucie, Jin, Yu, Mendola, Antonella, Ngueta, Gérard, Yang, Wen-Yi, Gruson, Damien, Horman, Sandrine, Staessen, Jan A., Vikkula, Miikka

“…The serine/threonine kinase With-No-Lysine (K) Kinase 1 (WNK1) activates the thiazide-sensitive Na(+)/Cl(-) cotransporter through phosphorylation of…”
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Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations by Soblet, Julie, Kangas, Jaakko, Nätynki, Marjut, Mendola, Antonella, Helaers, Raphaël, Uebelhoer, Melanie, Kaakinen, Mika, Cordisco, Maria, Dompmartin, Anne, Enjolras, Odile, Holden, Simon, Irvine, Alan D., Kangesu, Loshan, Léauté-Labrèze, Christine, Lanoel, Agustina, Lokmic, Zerina, Maas, Saskia, McAleer, Maeve A., Penington, Anthony, Rieu, Paul, Syed, Samira, van der Vleuten, Carine, Watson, Rosemarie, Fishman, Steven J., Mulliken, John B., Eklund, Lauri, Limaye, Nisha, Boon, Laurence M., Vikkula, Miikka

“…Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous…”
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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome by Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy J L, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka

“…Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable…”
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Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus by Christiaens, Antoine B., Deprez, Pierre M. L., Amyere, Mustapha, Mendola, Antonella, Bernard, Pierre, Gillerot, Yves, Clapuyt, Philippe, Godfraind, Catherine, Lengelé, Benoît G., Vikkula, Miikka, Nyssen-Behets, Catherine

“…Congenital limb anomalies occur in Europe with a prevalence of 3.81/1,000 births and can have a major impact on patients and their families. The present study…”
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