The Experts below are selected from a list of 969 Experts worldwide ranked by ideXlab platform
María Jesús Sobrido - One of the best experts on this subject based on the ideXlab platform.
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mutations in slc20a2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Nature Genetics, 2012Co-Authors: Cheng Wang, João Ricardo Mendes De Oliveira, María Jesús Sobrido, Yulei Li, Monica Patti, Tao Wang, Beatriz Quintans, Miguel Baquero, Xiang Yang Zhang, Lianqing WangAbstract:Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr Disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body.
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Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification (“Fahr” Disease’)
Journal of Molecular Neuroscience, 2007Co-Authors: J. R. M. Oliveira, Elizabeth Spiteri, María Jesús Sobrido, Suellen Hopfer, G. Meroni, E. Petek, M. Baquero, D. H. GeschwindAbstract:Basal ganglia calcification (striatopallidodentate calcifications) can be caused by several systemic and neurological disorders. Familial Idiopathic Basal Ganglia Calcification (IBGC, “Fahr” Disease’), is characterized by basal ganglia and extrabasal ganglia calcifications, parkinsonism and neuropsychiatric symptoms. Because of an increased use of neuroimaging procedures, calcifications of the basal ganglia are visualized more often and precociously. In 1999, a major American family with IBGC was linked to a locus on chromosome 14q (IBGC1). Another small kindred, from Spain, has also been reported as possibly linked to this locus. Here we report the main findings of the first 30 candidate genes sequenced at the IBGC1 locus during the process of searching for a mutation responsible for familial IBGC. During the sequencing process, we identified a heterozygous nonsynonymous single nucleotide polymorphism (exon 20 of the MGEA6/c-TAGE gene) shared by the affected and not present in the controls. This SNP was randomly screened in the general population (348 chromosomes) in a minor allele frequency to 0.0058 (two heterozygous among 174 subjects). Another variation in this gene, in the exon 9, was found in the Spanish family. However, this variation was extremely common in the general population. Functional and population studies are necessary to fully access the implications of the MGEA6 gene in familial IBGC, and a complete sequencing of the IBGC1 locus will be necessary to define a gene responsible for familial IBGC.
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr Disease).
Neurology, 2004Co-Authors: João Ricardo Mendes De Oliveira, Thomas Voit, Elizabeth Spiteri, María Jesús Sobrido, Suellen Hopfer, Jason Klepper, Zbigniew K. Wszolek, Donald B. Calne, John R. Gilbert, A. Jon StoesslAbstract:Familial idiopathic basal ganglia calcification (IBGC, Fahr Disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.
João Ricardo Mendes De Oliveira - One of the best experts on this subject based on the ideXlab platform.
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mutations in slc20a2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Nature Genetics, 2012Co-Authors: Cheng Wang, João Ricardo Mendes De Oliveira, María Jesús Sobrido, Yulei Li, Monica Patti, Tao Wang, Beatriz Quintans, Miguel Baquero, Xiang Yang Zhang, Lianqing WangAbstract:Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr Disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body.
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr Disease).
Neurology, 2004Co-Authors: João Ricardo Mendes De Oliveira, Thomas Voit, Elizabeth Spiteri, María Jesús Sobrido, Suellen Hopfer, Jason Klepper, Zbigniew K. Wszolek, Donald B. Calne, John R. Gilbert, A. Jon StoesslAbstract:Familial idiopathic basal ganglia calcification (IBGC, Fahr Disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.
A. Jon Stoessl - One of the best experts on this subject based on the ideXlab platform.
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr Disease).
Neurology, 2004Co-Authors: João Ricardo Mendes De Oliveira, Thomas Voit, Elizabeth Spiteri, María Jesús Sobrido, Suellen Hopfer, Jason Klepper, Zbigniew K. Wszolek, Donald B. Calne, John R. Gilbert, A. Jon StoesslAbstract:Familial idiopathic basal ganglia calcification (IBGC, Fahr Disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.
Lianqing Wang - One of the best experts on this subject based on the ideXlab platform.
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mutations in slc20a2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Nature Genetics, 2012Co-Authors: Cheng Wang, João Ricardo Mendes De Oliveira, María Jesús Sobrido, Yulei Li, Monica Patti, Tao Wang, Beatriz Quintans, Miguel Baquero, Xiang Yang Zhang, Lianqing WangAbstract:Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr Disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body.
Elizabeth Spiteri - One of the best experts on this subject based on the ideXlab platform.
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Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification (“Fahr” Disease’)
Journal of Molecular Neuroscience, 2007Co-Authors: J. R. M. Oliveira, Elizabeth Spiteri, María Jesús Sobrido, Suellen Hopfer, G. Meroni, E. Petek, M. Baquero, D. H. GeschwindAbstract:Basal ganglia calcification (striatopallidodentate calcifications) can be caused by several systemic and neurological disorders. Familial Idiopathic Basal Ganglia Calcification (IBGC, “Fahr” Disease’), is characterized by basal ganglia and extrabasal ganglia calcifications, parkinsonism and neuropsychiatric symptoms. Because of an increased use of neuroimaging procedures, calcifications of the basal ganglia are visualized more often and precociously. In 1999, a major American family with IBGC was linked to a locus on chromosome 14q (IBGC1). Another small kindred, from Spain, has also been reported as possibly linked to this locus. Here we report the main findings of the first 30 candidate genes sequenced at the IBGC1 locus during the process of searching for a mutation responsible for familial IBGC. During the sequencing process, we identified a heterozygous nonsynonymous single nucleotide polymorphism (exon 20 of the MGEA6/c-TAGE gene) shared by the affected and not present in the controls. This SNP was randomly screened in the general population (348 chromosomes) in a minor allele frequency to 0.0058 (two heterozygous among 174 subjects). Another variation in this gene, in the exon 9, was found in the Spanish family. However, this variation was extremely common in the general population. Functional and population studies are necessary to fully access the implications of the MGEA6 gene in familial IBGC, and a complete sequencing of the IBGC1 locus will be necessary to define a gene responsible for familial IBGC.
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr Disease).
Neurology, 2004Co-Authors: João Ricardo Mendes De Oliveira, Thomas Voit, Elizabeth Spiteri, María Jesús Sobrido, Suellen Hopfer, Jason Klepper, Zbigniew K. Wszolek, Donald B. Calne, John R. Gilbert, A. Jon StoesslAbstract:Familial idiopathic basal ganglia calcification (IBGC, Fahr Disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.
