Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Florence A. Arts"'
Autor:
Florence A. Arts, Jean-Baptiste Demoulin, Boutaina Boulouadnine, Guillaume Dachy, Emilie Guérit
Publikováno v:
Cellular and molecular life sciences : CMLS, Vol. 78, no.8, p. 3867-3881 (2021)
PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas,
Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling
Autor:
Audrey Nédélec, Emilie M. Guérit, Guillaume Dachy, Sandrine Lenglez, Lok San Wong, Florence A. Arts, Jean‐Baptiste Demoulin
Publikováno v:
Journal of cellular and molecular medicine, Vol. 26, no.99, p. 99 (2022)
Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet-derived growth factor (PDGF) receptor beta (encoded by the PDGFRB proto-oncogene) and characterized by a prematurely aged appearance with lipoatrophy, skin lesions, thin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53094c1640192046fc6a26f23b342732
https://hdl.handle.net/2078.1/261936
https://hdl.handle.net/2078.1/261936
Autor:
Maria Debiec-Rychter, Bénédicte Brichard, Ann Van Damme, Raf Sciot, Amélie I. Velghe, Miikka Vikkula, Florence A. Arts, Guillaume Dachy, Christine Galant, Hélène Poirel, Laura A. Noël, Raphaël Helaers, Nisha Limaye, Marleen Renard, Audrey de Rocca Serra, Jean-Baptiste Demoulin
Publikováno v:
Human Molecular Genetics. 26:1801-1810
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A few familial cases have been linked to mutations in various genes inc
Autor:
Miikka Vikkula, Pascal Brouillard, Suma B Hoffman, Ronald R. de Krijger, Ivan Théate, Bénédicte Brichard, Sylvie Fraitag, Guillaume Dachy, Louis Libbrecht, Florence A. Arts, Nisha Limaye, Jean-Baptiste Demoulin
Publikováno v:
JAMA Dermatology, 155(8), 946. American Medical Association
JAMA dermatology, Vol. 155, no. 8, p. 946-950 (2019)
JAMA dermatology, Vol. 155, no. 8, p. 946-950 (2019)
Importance Myofibroma is the most frequent fibrous tumor in children. Multicentric myofibroma (referred to as infantile myofibromatosis) is a life-threatening disease. Objective To determine the frequency, spectrum, and clinical implications of mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0cc6a8f022d08bd2434a812b525f3c0
https://dspace.library.uu.nl/handle/1874/392070
https://dspace.library.uu.nl/handle/1874/392070
Autor:
Robert Ta, John J. O'Leary, Lisa Keogh, Noreen Gleeson, Sharon O'Toole, Paul Smyth, Richard Flavin, Florence A. Arts, Orla Sheils
Publikováno v:
Human pathology. 70
Ovarian cancer is the fifth most common cancer in women worldwide and has the highest mortality amongst gynecological cancers. miRNAs are a class of non-coding RNAs, approximately 22 nt long, that negatively regulate gene expression and have roles in
Autor:
Jean-Baptiste Demoulin, Nancy J. Mendelsohn, Florence A. Arts, Yoav H. Messinger, Dinel A. Pond, Gunter Scharer
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
Heterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a germ-line PDGFRB p.N666H mutation who responded to the tyrosine kinase inhibitor imatinib by inhibi
Autor:
Jan Cools, Catherine Y. Marbehant, Olga Gielen, Carmen P. Montano-Almendras, Luk Cox, Laura A. Noël, Florence A. Arts, Federica Toffalini, Jean-Baptiste Demoulin
Publikováno v:
Molecular Oncology. 8:728-740
Activated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutan
Publikováno v:
OncoTarget, Vol. 8, no.13, p. 20523-20524 (2017)
Autor:
Stefan N. Constantinescu, Bengt Hallberg, Florence A. Arts, Christian Pecquet, Jean-Baptiste Demoulin, Amélie Velghe, D Chand
Publikováno v:
Oncogene. 35(25)
Recently, germline and somatic heterozygous mutations in the platelet-derived growth factor receptor β (PDGFRB) have been associated with familial infantile myofibromatosis (IM), which is characterized by soft tissue tumors, and overgrowth syndrome,
Autor:
Laura A. Noël, Bénédicte Brichard, Jean-Baptiste Demoulin, An Van Damme, Miikka Vikkula, Marleen Renard, Maria Debiec-Rychter, Raphaël Helaers, Nisha Limaye, Amélie I. Velghe, Hélène Poirel, Raf Sciot, Florence A. Arts, Christine Galant
Publikováno v:
Cancer Research. 77:534-534
Myofibromas and infantile myofibromatosis are among the most prevalent soft tissue tumors of infancy and childhood. They are characterized by the presence of solitary or multiple nodules in the skin, subcutaneous soft tissues, bones, muscles and visc