The Experts below are selected from a list of 28908 Experts worldwide ranked by ideXlab platform
V El-ghouzzi - One of the best experts on this subject based on the ideXlab platform.
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome
Journal of Neurosurgery, 2000Co-Authors: Dominique Renier, V El-ghouzzi, Jacky Bonaventure, Martine Le Merrer, Elizabeth LajeunieAbstract:A Recurrent Point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients.
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
Journal of Neurosurgery, 2000Co-Authors: Dominique Renier, V El-ghouzzi, Jacky Bonaventure, Martine Le Merrer, Elizabeth LajeunieAbstract:Object. A Recurrent Point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients. Methods. A DNA analysis was performed in 103 children suffering from apparently isolated coronal synostosis, 41 of whom had bilateral and 62 of whom had unilateral disease. There were 31 boys and 72 girls in the study group. Sixty cases were sporadic and 43 were familial; the 43 familial cases arose in 33 unrelated families. The mutation was found in seven (12%) of 60 sporadic cases and in 24 (73%) of the 33 families. The functional and morphological results were assessed in all surgically treated patients who had at least 1 year of follow up and who were...
Dominique Renier - One of the best experts on this subject based on the ideXlab platform.
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome
Journal of Neurosurgery, 2000Co-Authors: Dominique Renier, V El-ghouzzi, Jacky Bonaventure, Martine Le Merrer, Elizabeth LajeunieAbstract:A Recurrent Point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients.
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
Journal of Neurosurgery, 2000Co-Authors: Dominique Renier, V El-ghouzzi, Jacky Bonaventure, Martine Le Merrer, Elizabeth LajeunieAbstract:Object. A Recurrent Point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients. Methods. A DNA analysis was performed in 103 children suffering from apparently isolated coronal synostosis, 41 of whom had bilateral and 62 of whom had unilateral disease. There were 31 boys and 72 girls in the study group. Sixty cases were sporadic and 43 were familial; the 43 familial cases arose in 33 unrelated families. The mutation was found in seven (12%) of 60 sporadic cases and in 24 (73%) of the 33 families. The functional and morphological results were assessed in all surgically treated patients who had at least 1 year of follow up and who were...
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Sex related expressivity of the phenotype in coronal craniosynostosis caused by the Recurrent P250R FGFR3 mutation
Journal of medical genetics, 1999Co-Authors: Elizabeth Lajeunie, Jacky Bonaventure, V. El Ghouzzi, M. Le Merrer, Arnold Munnich, Dominique RenierAbstract:A Recurrent Point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis. Sixty-two patients with sporadic or familial forms of coronal craniosynostosis were investigated for the P250R FGFR3 mutation. It was identified in 20 probands originating from 27 unrelated families (74%), while only 6/35 sporadic cases (17%) harboured the mutation. In both familial and sporadic cases, females were significantly more severely affected than males. Hence, while 68% of females carrying the P250R mutation showed brachycephaly, only 35% of males had the same phenotype. In the most severe forms of the disease, the association of bicoronal craniosynostosis with hypertelorism and marked bulging of the temporal fossae were common hallmarks that might be helpful for clinical diagnosis. Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males. The sex related severity of the condition Points to the possible implication of modifier genes in this syndrome.
Elizabeth Lajeunie - One of the best experts on this subject based on the ideXlab platform.
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome
Journal of Neurosurgery, 2000Co-Authors: Dominique Renier, V El-ghouzzi, Jacky Bonaventure, Martine Le Merrer, Elizabeth LajeunieAbstract:A Recurrent Point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients.
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
Journal of Neurosurgery, 2000Co-Authors: Dominique Renier, V El-ghouzzi, Jacky Bonaventure, Martine Le Merrer, Elizabeth LajeunieAbstract:Object. A Recurrent Point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients. Methods. A DNA analysis was performed in 103 children suffering from apparently isolated coronal synostosis, 41 of whom had bilateral and 62 of whom had unilateral disease. There were 31 boys and 72 girls in the study group. Sixty cases were sporadic and 43 were familial; the 43 familial cases arose in 33 unrelated families. The mutation was found in seven (12%) of 60 sporadic cases and in 24 (73%) of the 33 families. The functional and morphological results were assessed in all surgically treated patients who had at least 1 year of follow up and who were...
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Sex related expressivity of the phenotype in coronal craniosynostosis caused by the Recurrent P250R FGFR3 mutation
Journal of medical genetics, 1999Co-Authors: Elizabeth Lajeunie, Jacky Bonaventure, V. El Ghouzzi, M. Le Merrer, Arnold Munnich, Dominique RenierAbstract:A Recurrent Point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis. Sixty-two patients with sporadic or familial forms of coronal craniosynostosis were investigated for the P250R FGFR3 mutation. It was identified in 20 probands originating from 27 unrelated families (74%), while only 6/35 sporadic cases (17%) harboured the mutation. In both familial and sporadic cases, females were significantly more severely affected than males. Hence, while 68% of females carrying the P250R mutation showed brachycephaly, only 35% of males had the same phenotype. In the most severe forms of the disease, the association of bicoronal craniosynostosis with hypertelorism and marked bulging of the temporal fossae were common hallmarks that might be helpful for clinical diagnosis. Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males. The sex related severity of the condition Points to the possible implication of modifier genes in this syndrome.
Sten Eirik W. Jacobsen - One of the best experts on this subject based on the ideXlab platform.
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Hierarchical Analysis Of Recurrent Point Mutations In SF3B1 and TET2 In RARS Stem Cells
Blood, 2013Co-Authors: Teresa Mortera-blanco, Marios Dimitriou, Petter S. Woll, Mohsen Karimi, Elli Papaemmanuil, Simona Conte, Oni Chowdhuri, Monika Jansson, Peter J. Campbell, Sten Eirik W. JacobsenAbstract:The MDS subgroup refractory anemia with ring sideroblasts (RARS) is characterised by aberrant mitochondrial ferritin accumulation in erythroblasts that fail to mature into erythrocytes. Recently, dominant mutations in SF3B1 , a core component of the spliceosome were demonstrated in >75% of RARS, but only in a minority of other MDS subtypes. Many RARS patients also carry other driver mutations, such as epigenetic mutations in DNMT3A and TET2, but the order of occurrence and cooperation between these mutations have not been established. We recently showed that SF3B1 suppresses the expression of the mitochondrial transporter protein ABCB7, which in turn mediates erythroid failure in RARS, but the link to clonal advantage of RARS hemopoietic stem cells (HSC) remains unclear. To explore this link, as well as the impact of additional mutations, we studied RARS with normal karyotype. Screening for 111 Recurrently mutated genes in myeloid malignancies revealed SF3B1 in 12 out of 13 patients, TET2 mutations in 3 of these patients ( Q916*, H1881Y, Q690*, and R1404* ), and DNMT3A mutations in 3 patients( E240fs*8, F414L, W305*, E285* ). Other mutations occurred only once. The frequencies of phenotypically defined RARS stem and myeloid-erythroid progenitor cells in the bone marrow (BM) did not differ from that of normal BM controls, whereas pro-B cells were significantly reduced in the RARS samples (p
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hierarchical analysis of Recurrent Point mutations in sf3b1 and tet2 in rars stem cells
Blood, 2013Co-Authors: Teresa Morterablanco, Marios Dimitriou, Petter S. Woll, Mohsen Karimi, Elli Papaemmanuil, Simona Conte, Oni Chowdhuri, Monika Jansson, Peter J. Campbell, Sten Eirik W. JacobsenAbstract:The MDS subgroup refractory anemia with ring sideroblasts (RARS) is characterised by aberrant mitochondrial ferritin accumulation in erythroblasts that fail to mature into erythrocytes. Recently, dominant mutations in SF3B1 , a core component of the spliceosome were demonstrated in >75% of RARS, but only in a minority of other MDS subtypes. Many RARS patients also carry other driver mutations, such as epigenetic mutations in DNMT3A and TET2, but the order of occurrence and cooperation between these mutations have not been established. We recently showed that SF3B1 suppresses the expression of the mitochondrial transporter protein ABCB7, which in turn mediates erythroid failure in RARS, but the link to clonal advantage of RARS hemopoietic stem cells (HSC) remains unclear. To explore this link, as well as the impact of additional mutations, we studied RARS with normal karyotype. Screening for 111 Recurrently mutated genes in myeloid malignancies revealed SF3B1 in 12 out of 13 patients, TET2 mutations in 3 of these patients ( Q916*, H1881Y, Q690*, and R1404* ), and DNMT3A mutations in 3 patients( E240fs*8, F414L, W305*, E285* ). Other mutations occurred only once. The frequencies of phenotypically defined RARS stem and myeloid-erythroid progenitor cells in the bone marrow (BM) did not differ from that of normal BM controls, whereas pro-B cells were significantly reduced in the RARS samples (p<0.005). However, functional in vitro analysis of sorted lineage-restricted RARS populations showed a 3-fold decrease in the number of granulocyte-macrophage progenitors (GMP) colonies (p<0.05) and a 5-fold decrease of megakaryocyte-erythroid progenitor (MEP) ( p <0.001) compared to normal. Colony forming-units picked from these sorted linage-restricted RARS populations and analysed by pyrosequencing revealed remarkable differences; TET2 mutated RARS samples showed 90% and 87% SF3B1 mutated GMP and MEP subpopulations, respectively, while TET2 wild-type samples had much lower SF3B1 mutational frequencies (26% and 45%) in these subpopulations. Long-term culture initiating cell assays showed that only CD34+CD38-CD90+CD45RA- RARS stem cells could sustain long-term (6-week) generation of myeloid progenitors. Pyrosequencing of the different RARS subpopulations colonies helped us to determine the hierarchy of mutations, suggesting that TET2 mutations precede SF3B1 mutations at the HSC level (n=15). Interestingly, patients that were not TET2 but SF3B1 mutated showed a heterogeneous patterns. In some cases the SF3B1 mutation appeared at the HSC level and in others at the differentiated progenitor level. These results, together with an increased 22-week engraftment of TET2 mutated RARS HSC in NOD/SCID mice compared to HSC carrying SF3B1 mutation only constitute the basis for future investigation involving DNA and RNA sequencing of the sorted stem and lineage restricted RARS populations, in order to further explore the mutational hierarchy, as well as studies of the potential for clonal expansion and functional differentiation into progenitor cells. Disclosures: No relevant conflicts of interest to declare.
César Ojeda - One of the best experts on this subject based on the ideXlab platform.
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Recurrent Point review models
International Joint Conference on Neural Network, 2020Co-Authors: Kostadin Cvejoski, Ramsés J. Sánchez, Bogdan Georgiev, Christian Bauckhage, César OjedaAbstract:Deep neural network models represent the state-of-the-art methodologies for natural language processing. Here we build on top of these methodologies to incorporate temporal information and model how review data changes with time. Specifically, we use the dynamic representations of Recurrent Point process models, which encode the history of how business or service reviews are received in time, to generate instantaneous language models with improved prediction capabilities. Simultaneously, our methodologies enhance the predictive power of our Point process models by incorporating summarized review content representations. We provide Recurrent network and temporal convolution solutions for modeling the review content. We deploy our methodologies in the context of recommender systems, effectively characterizing the change in preference and taste of users as time evolves. Source code is available at [1].
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IJCNN - Recurrent Point Review Models
2020 International Joint Conference on Neural Networks (IJCNN), 2020Co-Authors: Kostadin Cvejoski, Ramsés J. Sánchez, Bogdan Georgiev, Christian Bauckhage, César OjedaAbstract:Deep neural network models represent the state-of-the-art methodologies for natural language processing. Here we build on top of these methodologies to incorporate temporal information and model how review data changes with time. Specifically, we use the dynamic representations of Recurrent Point process models, which encode the history of how business or service reviews are received in time, to generate instantaneous language models with improved prediction capabilities. Simultaneously, our methodologies enhance the predictive power of our Point process models by incorporating summarized review content representations. We provide Recurrent network and temporal convolution solutions for modeling the review content. We deploy our methodologies in the context of recommender systems, effectively characterizing the change in preference and taste of users as time evolves. Source code is available at [1].
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Recurrent Point Processes for Dynamic Review Models.
arXiv: Learning, 2019Co-Authors: Kostadin Cvejoski, Ramsés J. Sánchez, Bogdan Georgiev, Jannis Schuecker, Christian Bauckhage, César OjedaAbstract:Recent progress in recommender system research has shown the importance of including temporal representations to improve interpretability and performance. Here, we incorporate temporal representations in continuous time via Recurrent Point process for a dynamical model of reviews. Our goal is to characterize how changes in perception, user interest and seasonal effects affect review text.