The Experts below are selected from a list of 2571 Experts worldwide ranked by ideXlab platform
Alexandre Reymond - One of the best experts on this subject based on the ideXlab platform.
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Williams–Beuren Syndrome TRIM50 encodes an E3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams–Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50 , TRIM73 and TRIM74 , belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
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Williams Beuren Syndrome trim50 encodes an e3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams-Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
Carmela Fusco - One of the best experts on this subject based on the ideXlab platform.
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A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
Molecular syndromology, 2013Co-Authors: L.m. Delgado, Carmela Fusco, Bartolomeo Augello, Lucia Micale, Giuseppe Merla, Maximiliano G. Gutierrez, E.a. PasteneAbstract:Williams-Beuren Syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren Syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
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eLS - Molecular Genetics of Williams–Beuren Syndrome
eLS, 2012Co-Authors: Giuseppe Merla, Carmela Fusco, Lucia Micale, Maria Nicla LoviglioAbstract:The Williams–Beuren Syndrome is a rare genomic disorder caused by a hemizygous microdeletion of approximately 30 genes at 7q11.23 occurring by nonallelic homologous recombination between low copy repeats flanking that region. The 7q11.23 region has been also found duplicated, triplicated and inverted in patients with different and, in some instances, reciprocal phenotypes. Complementary strategies including mouse models, functional and biochemical studies have been pursued in the recent years to delineate the individual and/or combined contribution of hemizygous genes to the wide spectrum of phenotypes that characterises this Syndrome. Haploinsufficiency of several of these genes has been reported to account for parts of the overall phenotypes, suggesting their sensitivity to gene dosage. Notably, MLXIPL, GTF2IRD1 and GTF2I hemizygous genes act as transcription factors, therefore is likely that their haploinsufficiency is responsible for some of clinical features by regulating gene expression of a wide number of target genes. Key Concepts: Williams–Beuren Syndrome is a genomic disorder characterised by a unique cognitive profile and it involves approximately 30 hemizygous genes at 7q11.23. The 7q11.23 Williams–Beuren Syndrome region has been found deleted, duplicated, triplicated and inverted in patients with different phenotypes. Patients with atypical deletions and mouse models have provided insights about the genotype–phenotype correlations. Haploinsufficiency of the Williams–Beuren Syndrome genes is correlated with the clinical signs. BAZ1B has been linked to cardiac, craniofacial and hypercalcemia defects; hemizygosity of MLXIPL could be related to the diabetic phenotype of Williams–Beuren Syndrome patients through regulation of glucose metabolism. The GTF2IRD1 transcription factor modulates genes involved in tissue development and differentiation and is a strong candidate for the craniofacial and neurobehavioral features. Keywords: Williams–Beuren Syndrome; 7q11.23; haploinsufficiency; genotype–phenotype correlation; neurodevelopmental disorder; segmental duplication; low copy repeats; nonallelic homologous recombination
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Williams–Beuren Syndrome TRIM50 encodes an E3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams–Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50 , TRIM73 and TRIM74 , belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
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Williams Beuren Syndrome trim50 encodes an e3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams-Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
Lucia Micale - One of the best experts on this subject based on the ideXlab platform.
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A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
Molecular syndromology, 2013Co-Authors: L.m. Delgado, Carmela Fusco, Bartolomeo Augello, Lucia Micale, Giuseppe Merla, Maximiliano G. Gutierrez, E.a. PasteneAbstract:Williams-Beuren Syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren Syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
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eLS - Molecular Genetics of Williams–Beuren Syndrome
eLS, 2012Co-Authors: Giuseppe Merla, Carmela Fusco, Lucia Micale, Maria Nicla LoviglioAbstract:The Williams–Beuren Syndrome is a rare genomic disorder caused by a hemizygous microdeletion of approximately 30 genes at 7q11.23 occurring by nonallelic homologous recombination between low copy repeats flanking that region. The 7q11.23 region has been also found duplicated, triplicated and inverted in patients with different and, in some instances, reciprocal phenotypes. Complementary strategies including mouse models, functional and biochemical studies have been pursued in the recent years to delineate the individual and/or combined contribution of hemizygous genes to the wide spectrum of phenotypes that characterises this Syndrome. Haploinsufficiency of several of these genes has been reported to account for parts of the overall phenotypes, suggesting their sensitivity to gene dosage. Notably, MLXIPL, GTF2IRD1 and GTF2I hemizygous genes act as transcription factors, therefore is likely that their haploinsufficiency is responsible for some of clinical features by regulating gene expression of a wide number of target genes. Key Concepts: Williams–Beuren Syndrome is a genomic disorder characterised by a unique cognitive profile and it involves approximately 30 hemizygous genes at 7q11.23. The 7q11.23 Williams–Beuren Syndrome region has been found deleted, duplicated, triplicated and inverted in patients with different phenotypes. Patients with atypical deletions and mouse models have provided insights about the genotype–phenotype correlations. Haploinsufficiency of the Williams–Beuren Syndrome genes is correlated with the clinical signs. BAZ1B has been linked to cardiac, craniofacial and hypercalcemia defects; hemizygosity of MLXIPL could be related to the diabetic phenotype of Williams–Beuren Syndrome patients through regulation of glucose metabolism. The GTF2IRD1 transcription factor modulates genes involved in tissue development and differentiation and is a strong candidate for the craniofacial and neurobehavioral features. Keywords: Williams–Beuren Syndrome; 7q11.23; haploinsufficiency; genotype–phenotype correlation; neurodevelopmental disorder; segmental duplication; low copy repeats; nonallelic homologous recombination
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Williams–Beuren Syndrome TRIM50 encodes an E3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams–Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50 , TRIM73 and TRIM74 , belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
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Williams Beuren Syndrome trim50 encodes an e3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams-Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
Bartolomeo Augello - One of the best experts on this subject based on the ideXlab platform.
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A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
Molecular syndromology, 2013Co-Authors: L.m. Delgado, Carmela Fusco, Bartolomeo Augello, Lucia Micale, Giuseppe Merla, Maximiliano G. Gutierrez, E.a. PasteneAbstract:Williams-Beuren Syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren Syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
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Williams–Beuren Syndrome TRIM50 encodes an E3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams–Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50 , TRIM73 and TRIM74 , belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
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Williams Beuren Syndrome trim50 encodes an e3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams-Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
Giuseppe Merla - One of the best experts on this subject based on the ideXlab platform.
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A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
Molecular syndromology, 2013Co-Authors: L.m. Delgado, Carmela Fusco, Bartolomeo Augello, Lucia Micale, Giuseppe Merla, Maximiliano G. Gutierrez, E.a. PasteneAbstract:Williams-Beuren Syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren Syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
-
eLS - Molecular Genetics of Williams–Beuren Syndrome
eLS, 2012Co-Authors: Giuseppe Merla, Carmela Fusco, Lucia Micale, Maria Nicla LoviglioAbstract:The Williams–Beuren Syndrome is a rare genomic disorder caused by a hemizygous microdeletion of approximately 30 genes at 7q11.23 occurring by nonallelic homologous recombination between low copy repeats flanking that region. The 7q11.23 region has been also found duplicated, triplicated and inverted in patients with different and, in some instances, reciprocal phenotypes. Complementary strategies including mouse models, functional and biochemical studies have been pursued in the recent years to delineate the individual and/or combined contribution of hemizygous genes to the wide spectrum of phenotypes that characterises this Syndrome. Haploinsufficiency of several of these genes has been reported to account for parts of the overall phenotypes, suggesting their sensitivity to gene dosage. Notably, MLXIPL, GTF2IRD1 and GTF2I hemizygous genes act as transcription factors, therefore is likely that their haploinsufficiency is responsible for some of clinical features by regulating gene expression of a wide number of target genes. Key Concepts: Williams–Beuren Syndrome is a genomic disorder characterised by a unique cognitive profile and it involves approximately 30 hemizygous genes at 7q11.23. The 7q11.23 Williams–Beuren Syndrome region has been found deleted, duplicated, triplicated and inverted in patients with different phenotypes. Patients with atypical deletions and mouse models have provided insights about the genotype–phenotype correlations. Haploinsufficiency of the Williams–Beuren Syndrome genes is correlated with the clinical signs. BAZ1B has been linked to cardiac, craniofacial and hypercalcemia defects; hemizygosity of MLXIPL could be related to the diabetic phenotype of Williams–Beuren Syndrome patients through regulation of glucose metabolism. The GTF2IRD1 transcription factor modulates genes involved in tissue development and differentiation and is a strong candidate for the craniofacial and neurobehavioral features. Keywords: Williams–Beuren Syndrome; 7q11.23; haploinsufficiency; genotype–phenotype correlation; neurodevelopmental disorder; segmental duplication; low copy repeats; nonallelic homologous recombination
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Williams–Beuren Syndrome TRIM50 encodes an E3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams–Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50 , TRIM73 and TRIM74 , belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
-
Williams Beuren Syndrome trim50 encodes an e3 ubiquitin ligase
European Journal of Human Genetics, 2008Co-Authors: Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre ReymondAbstract:Williams-Beuren Syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.