Search Results - "Eric, Legius"

Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways by Borrie, Sarah C, Brems, Hilde, Legius, Eric, Bagni, Claudia

“…The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as cancer regulatory pathways but have now been demonstrated to be critical for…”
Get full text

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling by Melki, Isabelle, MD, Rose, Yoann, BSc, Uggenti, Carolina, PhD, Van Eyck, Lien, MD, Frémond, Marie-Louise, MD, Kitabayashi, Naoki, BSc, Rice, Gillian I., PhD, Jenkinson, Emma M., PhD, Boulai, Anaïs, BSc, Jeremiah, Nadia, PhD, Gattorno, Marco, MD, Volpi, Sefano, MD, PhD, Sacco, Olivero, MD, Terheggen-Lagro, Suzanne W.J., MD, Tiddens, Harm A.W.M., MD, PhD, Meyts, Isabelle, MD, PhD, Morren, Marie-Anne, MD, De Haes, Petra, MD, PhD, Wouters, Carine, MD, PhD, Legius, Eric, MD, PhD, Corveleyn, Anniek, PhD, Rieux-Laucat, Frederic, PhD, Bodemer, Christine, MD, PhD, Callebaut, Isabelle, PhD, Rodero, Mathieu P., PhD, Crow, Yanick J., MD, PhD

“…Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type…”
Get full text

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 by Brems, Hilde, MSc, Beert, Eline, MSc, de Ravel, Thomy, MD, Legius, Eric, Dr, Prof

“…Summary Neurofibromatosis type 1 (NF1) is a familial tumour syndrome. Malignant tumours can arise in the nervous and non-nervous system in either childhood or…”
Get full text

Legius Syndrome and its Relationship with Neurofibromatosis Type 1 by Denayer, Ellen, Legius, Eric

“…Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant…”
Get full text

SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila by Mariano, Vittoria, Kanellopoulos, Alexandros K., Aiello, Giuseppe, Lo, Adrian C., Legius, Eric, Achsel, Tilmann, Bagni, Claudia

“…Sleep behavior is conserved throughout evolution, and sleep disturbances are a frequent comorbidity of neuropsychiatric disorders. However, the molecular basis…”
Get full text

Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor by Vanden Bempt, Isabelle, Vander Borght, Sara, Sciot, Raf, Spans, Lien, Claerhout, Sofie, Brems, Hilde, Lehnert, Stefan, Dehaspe, Luc, Fransis, Sabine, Neuville, Bart, Topal, Baki, Schöffski, Patrick, Legius, Eric, Debiec‐Rychter, Maria

“…Mutational analysis guides therapeutic decision making in patients with advanced‐stage gastrointestinal stromal tumors (GISTs). We evaluated three targeted…”
Get full text

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors by Higham, Christine S, Dombi, Eva, Rogiers, Aljosja, Bhaumik, Sucharita, Pans, Steven, Connor, Steve E J, Miettinen, Markku, Sciot, Raf, Tirabosco, Roberto, Brems, Hilde, Baldwin, Andrea, Legius, Eric, Widemann, Brigitte C, Ferner, Rosalie E

“…Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in…”
Get full text

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future by Reilly, Karlyne M, Kim, AeRang, Blakely, Jaishri, Ferner, Rosalie E, Gutmann, David H, Legius, Eric, Miettinen, Markku M, Randall, R Lor, Ratner, Nancy, Jumbé, N L, Bakker, Annette, Viskochil, David, Widemann, Brigitte C, Stewart, Douglas R

“…Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma for which the only effective therapy is surgery. In 2016, an international…”
Get full text

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA by Che, Huiwen, Villela, Darine, Dimitriadou, Eftychia, Melotte, Cindy, Brison, Nathalie, Neofytou, Maria, Van Den Bogaert, Kris, Tsuiko, Olga, Devriendt, Koen, Legius, Eric, Esteki, Masoud Zamani, Voet, Thierry, Vermeesch, Joris Robert

“…Purpose Whereas noninvasive prenatal screening for aneuploidies is widely implemented, there is an increasing need for universal approaches for noninvasive…”
Get full text

The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities by Brosseau, Jean-Philippe, Pichard, Dominique C, Legius, Eric H, Wolkenstein, Pierre, Lavker, Robert M, Blakeley, Jaishri O, Riccardi, Vincent M, Verma, Sharad K, Brownell, Isaac, Le, Lu Q

“…OBJECTIVEA group of experts in dermatology, genetics, neuroscience, and regenerative medicine collaborated to summarize current knowledge on the defined…”
Get full text

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors by Beert, Eline, Brems, Hilde, Daniëls, Bruno, De Wever, Ivo, Van Calenbergh, Frank, Schoenaers, Joseph, Debiec-Rychter, Maria, Gevaert, Olivier, De Raedt, Thomas, Van Den Bruel, Annick, de Ravel, Thomy, Cichowski, Karen, Kluwe, Lan, Mautner, Victor, Sciot, Raf, Legius, Eric

“…Benign peripheral nerve sheath tumors (PNSTs) are a characteristic feature of neurofibromatosis type I (NF1) patients. NF1 individuals have an 8–13% lifetime…”
Get full text

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype by Somers, Riet, De Schepper, Sofie, Denayer, Ellen, Cools, Jan, Legius, Eric, Thomas, Gilles, Brems, Hilde, Sahbatou, Mourad, Taniguchi, Koji, Kato, Reiko, Messiaen, Ludwine, Fryns, Jean-Pierre, Yoshimura, Akihiko, Marynen, Peter, Chmara, Magdalena

“…We report germline loss-of-function mutations in SPRED1 in a newly identified autosomal dominant human disorder. SPRED1 is a member of the SPROUTY/SPRED family…”
Get full text

Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning by Plasschaert, Ellen, Van Eylen, Lien, Descheemaeker, Mie-Jef, Noens, Ilse, Legius, Eric, Steyaert, Jean

“…The aim of this study was to provide a broad picture of Executive Functioning (EF) in NF1 children, while taking into account their lower average IQ and…”
Get full text

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1 by Hirata, Yasuko, Brems, Hilde, Suzuki, Mayu, Kanamori, Mitsuhiro, Okada, Masahiro, Morita, Rimpei, Llano-Rivas, Isabel, Ose, Toyoyuki, Messiaen, Ludwine, Legius, Eric, Yoshimura, Akihiko

“…Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple…”
Get full text

The NF1 Tumor Suppressor Critically Regulates TSC2 and mTOR by Johannessen, Cory M., Reczek, Elizabeth E., James, Marianne F., Brems, Hilde, Legius, Eric, Cichowski, Karen, Cantley, Lewis C.

“…Loss-of-function mutations in the NF1 tumor suppressor gene underlie the familial cancer syndrome neurofibromatosis type I (NF1). The NF1-encoded protein,…”
Get full text

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing by Amant, Frédéric, Verheecke, Magali, Wlodarska, Iwona, Dehaspe, Luc, Brady, Paul, Brison, Nathalie, Van Den Bogaert, Kris, Dierickx, Daan, Vandecaveye, Vincent, Tousseyn, Thomas, Moerman, Philippe, Vanderstichele, Adriaan, Vergote, Ignace, Neven, Patrick, Berteloot, Patrick, Putseys, Katrien, Danneels, Lode, Vandenberghe, Peter, Legius, Eric, Vermeesch, Joris Robert

“…Noninvasive prenatal testing (NIPT) for fetal aneuploidy by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a major prenatal genetic test…”
Get more information

Identifying challenges in neurofibromatosis: a modified Delphi procedure by Dhaenens, Britt A E, Ferner, Rosalie E, Bakker, Annette, Nievo, Marco, Evans, D Gareth, Wolkenstein, Pierre, Potratz, Cornelia, Plotkin, Scott R, Heimann, Guenter, Legius, Eric, Oostenbrink, Rianne

“…Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are rare conditions with pronounced variability of clinical…”
Get full text

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia by Kjell, Van Royen, Hilde, Brems, Eric, Legius, Johan, Lammens, Armand, Laumen

“…A strong relationship between congenital pseudarthrosis of the tibia (CPT) and neurofibromatosis type 1 (NF1) has been suggested, but prevalence varies widely…”
Get full text

Challenges in Treating Genodermatoses: New Therapies at the Horizon by Morren, Marie-Anne, Legius, Eric, Giuliano, Fabienne, Hadj-Rabia, Smail, Hohl, Daniel, Bodemer, Christine

“…Genodermatoses are rare inherited skin diseases that frequently affect other organs. They often have marked effects on wellbeing and may cause early death…”
Get full text

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study by Vandenberghe, Peter, Prof, Wlodarska, Iwona, Prof, Tousseyn, Thomas, Prof, Dehaspe, Luc, PhD, Dierickx, Daan, Prof, Verheecke, Magali, MD, Uyttebroeck, Anne, Prof, Bechter, Oliver, Prof, Delforge, Michel, Prof, Vandecaveye, Vincent, Prof, Brison, Nathalie, PhD, Verhoef, Gregor EG, Prof, Legius, Eric, Prof, Amant, Frederic, Prof, Vermeesch, Joris R, Prof

“…Summary Background Hodgkin's lymphoma is one of the most common lymphoid neoplasms in young adults, but the low abundance of neoplastic Hodgkin/Reed-Sternberg…”
Get full text