Search Results - "Hilde Brems"

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…”
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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…”
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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…”
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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…”
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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…”
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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…”
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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…”
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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,…”
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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…”
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Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies by Beyens, Aude, Dequeker, Laure, Brems, Hilde, Janssens, Sandra, Syryn, Hannes, D'Hooghe, Anne, De Paepe, Pascale, Vanwalleghem, Lieve, Stockman, Annelies, Vankwikelberge, Elena, De Schepper, Sofie, Goeteyn, Marleen, Delbeke, Patricia, Callewaert, Bert

“…Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in have been…”
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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1 by Ottenhoff, Myrthe J., Rietman, André B., Mous, Sabine E., Plasschaert, Ellen, Gawehns, Daniela, Brems, Hilde, Oostenbrink, Rianne, van Minkelen, Rick, Nellist, Mark, Schorry, Elizabeth, Legius, Eric, Moll, Henriette A., Elgersma, Ype

“…Purpose Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cognitive deficits. The NF1 cognitive phenotype is generally…”
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Legius syndrome, an Update. Molecular pathology of mutations in SPRED1 by Brems, Hilde, Legius, Eric

“…Multiple café-au-lait macules (CALMs) are the hallmark of Von Recklinghausen disease, or neurofibromatosis type 1 (NF1). In 2007 we reported that some…”
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MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders by Borrie, Sarah C, Plasschaert, Ellen, Callaerts-Vegh, Zsuzsanna, Yoshimura, Akihiko, D'Hooge, Rudi, Elgersma, Ype, Kushner, Steven A, Legius, Eric, Brems, Hilde

“…Background RASopathies are a group of disorders that result from mutations in genes coding for proteins involved in regulating the Ras-MAPK signaling pathway,…”
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Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 by Maertens, Ophélia, De Schepper, Sofie, Vandesompele, Jo, Brems, Hilde, Heyns, Ine, Janssens, Sandra, Speleman, Frank, Legius, Eric, Messiaen, Ludwine

“…Elucidation of the biological framework underlying the development of neurofibromatosis type 1 (NF1)–related symptoms has proved to be difficult. Complicating…”
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Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association by BREMS, Hilde, PARK, Caroline, SLOAN, Jennifer L, YAO, Lawrence, LEE, Chyi-Chia Richard, SCIOT, Raf, DE SMET, Luc, LEGIUS, Eric, STEWART, Douglas R, MAERTENS, Ophélia, PEMOV, Alexander, MESSIA, Ludwine, UPADHYAYA, Meena, CLAES, Kathleen, BEERT, Eline, PEETERS, Kristel, MAUTNER, Victor

“…Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but…”
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Multitumor Case Series of Germline BRCA1 , BRCA2 and CHEK2 -Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors by Kinget, Lisa, Bechter, Oliver, Punie, Kevin, Debruyne, Philip R, Brems, Hilde, Clement, Paul, Roussel, Eduard, Van Herck, Yannick, Albersen, Maarten, Baldewijns, Marcella, Schöffski, Patrick, Beuselinck, Benoit

“…In recent years, immune checkpoint inhibitors (ICPI) have become widely used for multiple solid malignancies. Reliable predictive biomarkers for selection of…”
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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants by Gallon, Richard, Brekelmans, Carlijn, Martin, Marie, Bours, Vincent, Schamschula, Esther, Amberger, Albert, Muleris, Martine, Colas, Chrystelle, Dekervel, Jeroen, De Hertogh, Gert, Coupier, Jérôme, Colleye, Orphal, Sepulchre, Edith, Burn, John, Brems, Hilde, Legius, Eric, Wimmer, Katharina

“…Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic germline…”
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Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules by Lovatt, Charlotte, Williams, Megan, Gibbs, Alex, Mukhtar, Abdullahi, Morgan, Huw J., Lanfredini, Simone, Olivero, Carlotta, Spurlock, Gill, Davies, Sally, Philpott, Charlotte, Tovell, Hannah, Turnpenny, Peter, Baban, Dilair, Knight, Sam, Brems, Hilde, Sampson, Julian R., Legius, Eric, Upadhyaya, Meena, Patel, Girish K.

“…Background RASopathies, which include neurofibromatosis type 1 (NF1), are defined by Ras/mitogen‐activated protein kinase (Ras/MAPK) pathway activation. They…”
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Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability by Vandewalle, Joke, Langen, Marion, Zschätzsch, Marlen, Zschaetzsch, Marlen, Nijhof, Bonnie, Kramer, Jamie M, Brems, Hilde, Bauters, Marijke, Lauwers, Elsa, Srahna, Mohammed, Marynen, Peter, Verstreken, Patrik, Schenck, Annette, Hassan, Bassem A, Froyen, Guy

“…We recently reported that duplication of the E3 ubiquitin ligase HUWE1 results in intellectual disability (ID) in male patients. However, the underlying…”
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Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis by Magallón-Lorenz, Miriam, Terribas, Ernest, Ortega-Bertran, Sara, Creus-Bachiller, Edgar, Fernández, Marco, Requena, Gerard, Rosas, Inma, Mazuelas, Helena, Uriarte-Arrazola, Itziar, Negro, Alex, Lausová, Tereza, Castellanos, Elisabeth, Blanco, Ignacio, DeVries, George, Kawashima, Hiroyuki, Legius, Eric, Brems, Hilde, Mautner, Viktor, Kluwe, Lan, Ratner, Nancy, Wallace, Margaret, Fernández-Rodriguez, Juana, Lázaro, Conxi, Fletcher, Jonathan A., Reuss, David, Carrió, Meritxell, Gel, Bernat, Serra, Eduard

“…Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the peripheral nervous system that develop either sporadically or in the context…”
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