Search Results - "BRULARD, Céline"
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Chromosome Instability Accounts for Reverse Metastatic Outcomes of Pediatric and Adult Synovial Sarcomas
Published in Journal of clinical oncology (10-02-2013)“…Synovial sarcoma (SS) occurs in both children and adults, although metastatic events are much more common in adults. Whereas the importance of the t(X;18)…”
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Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease
Published in International journal of molecular sciences (08-08-2024)“…Post-translational modifications (PTMs) affecting proteins during or after their synthesis play a crucial role in their localization and function. The…”
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Mitotic Checkpoints and Chromosome Instability Are Strong Predictors of Clinical Outcome in Gastrointestinal Stromal Tumors
Published in Clinical cancer research (01-02-2012)“…The importance of KIT and PDGFRA mutations in the oncogenesis of gastrointestinal stromal tumors (GIST) is well established, but the genetic basis of GIST…”
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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1
Published in International journal of molecular sciences (09-01-2023)“…The ubiquitin pathway, one of the main actors regulating cell signaling processes and cellular protein homeostasis, is directly involved in the pathophysiology…”
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Dysregulations of Expression of Genes of the Ubiquitin/SUMO Pathways in an In Vitro Model of Amyotrophic Lateral Sclerosis Combining Oxidative Stress and SOD1 Gene Mutation
Published in International journal of molecular sciences (11-02-2021)“…Protein aggregates in affected motor neurons are a hallmark of amyotrophic lateral sclerosis (ALS), but the molecular pathways leading to their formation…”
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6
Recurrent TRIO Fusion in Nontranslocation-Related Sarcomas
Published in Clinical cancer research (01-02-2017)“…Despite various differences, nontranslocation-related sarcomas (e.g., comprising undifferentiated pleomorphic sarcoma, leiomyosarcoma, myxofibrosarcoma) are…”
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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype
Published in Annals of neurology (01-02-2018)“…We read with great interest the recent article published by Yooet al1reporting 4 additional Rett-like (RTT) patients with therecurring…”
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression
Published in Nature communications (22-09-2021)“…Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor in the developing retina. Little is known on…”
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Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome
Published in Neurobiology of aging (01-01-2021)“…More than 40 human diseases, mainly diseases affecting the central nervous system, are caused by the expansion of unstable nucleotide repeats. Repeats of…”
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RNA sequencing validation of the Complexity INdex in SARComas prognostic signature
Published in European journal of cancer (1990) (01-04-2016)“…Abstract Background Prognosis of metastatic outcome in soft tissue sarcomas is an important clinical challenge since these tumours can be very aggressive (up…”
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Robust gene expression signature is not merely a significant P value
Published in European journal of cancer (1990) (01-08-2013)Get full text
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12
Uterine smooth muscle tumor analysis by comparative genomic hybridization: a useful diagnostic tool in challenging lesions
Published in Modern pathology (01-07-2015)“…The diagnosis and management of uterine smooth muscle tumors with uncertain malignant potential (STUMP) is often challenging, and genomic data on these lesions…”
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Genomic index predicts clinical outcome of intermediate-risk gastrointestinal stromal tumours, providing a new inclusion criterion for imatinib adjuvant therapy
Published in European journal of cancer (1990) (01-01-2015)“…Abstract Purpose Imatinib mesylate is the front-line targeted therapy for gastrointestinal stromal tumours (GISTs). Patient’s eligibility to adjuvant imatinib…”
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Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01-02-2018)“…Mutations in the TAR-DNA Binding Protein-43 (TDP-43) encoding the TARDBP gene are present in amyotrophic lateral sclerosis (ALS). TDP-43 is the major component…”
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Genetic Profiling Identifies Two Classes of Soft-Tissue Leiomyosarcomas with Distinct Clinical Characteristics
Published in Clinical cancer research (01-03-2013)“…Data about the prognostic factors of soft-tissue leiomyosarcomas and their correlation with molecular profile are limited. From 1990 to 2010, 586 adult…”
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Deep sequencing is an appropriate tool for the selection of unique Hepatitis C virus (HCV) variants after single genomic amplification
Published in PloS one (31-03-2017)“…Hepatitis C virus (HCV) evolves rapidly in a single host and circulates as a quasispecies wich is a complex mixture of genetically distinct virus's but closely…”
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RCBTB1 Deletion Is Associated with Metastatic Outcome and Contributes to Docetaxel Resistance in Nontranslocation-Related Pleomorphic Sarcomas
Published in Cancers (11-01-2019)“…Half of soft-tissue sarcomas are tumors with complex genomics, which display no specific genetic alterations and respond poorly to treatment. It is therefore…”
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Recurrent \textitTRIO Fusion in Nontranslocation\textendashRelated Sarcomas
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Abstract 3829: Genomic index is a strong predictor of metastatic outcome in intermediate gastrointestinal stromal tumors and an inclusion criteria for imatinib adjuvant therapy
Published in Cancer research (Chicago, Ill.) (01-10-2014)“…Gastrointestinal stroma tumors (GISTs) harboring a cKIT / PDGFRA activating mutation in 90% of cases benefit from the Imatinib mesylate (Glivec®) targeted…”
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Effect of familial clustering in the genetic screening of 235 French ALS families
Published in Journal of neurology, neurosurgery and psychiatry (01-05-2021)“…ObjectivesTo determine whether the familial clustering of amyotrophic lateral sclerosis (ALS) cases and the phenotype of the disease may help identify the…”
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