The Experts below are selected from a list of 7458 Experts worldwide ranked by ideXlab platform
Ying Mai Yang - One of the best experts on this subject based on the ideXlab platform.
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thap1 dyt6 sequence variants in non dyt1 early onset primary dystonia in china and their effects on rna expression
Journal of Neurology, 2012Co-Authors: Fu-bo Cheng, Laurie J Ozelius, Xin-hua Wan, Jiachun Feng, Ling Yan, Ying Mai Yang, Lin WangAbstract:Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 Mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the Mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel Silent Mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One Silent Mutation (c.267G>A) was shown to affect THAP1 expression.
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1 261 thap1 dyt6 sequence variants in non dyt1 early onset primary dystonia in china and their effects on rna expression
Parkinsonism & Related Disorders, 2012Co-Authors: Fu-bo Cheng, Laurie J Ozelius, Xin-hua Wan, Jiachun Feng, Lin Wang, Ying Mai YangAbstract:Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 Mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the Mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel Silent Mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One Silent Mutation (c.267G>A) was shown to affect THAP1 expression.
Fu-bo Cheng - One of the best experts on this subject based on the ideXlab platform.
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thap1 dyt6 sequence variants in non dyt1 early onset primary dystonia in china and their effects on rna expression
Journal of Neurology, 2012Co-Authors: Fu-bo Cheng, Laurie J Ozelius, Xin-hua Wan, Jiachun Feng, Ling Yan, Ying Mai Yang, Lin WangAbstract:Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 Mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the Mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel Silent Mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One Silent Mutation (c.267G>A) was shown to affect THAP1 expression.
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1 261 thap1 dyt6 sequence variants in non dyt1 early onset primary dystonia in china and their effects on rna expression
Parkinsonism & Related Disorders, 2012Co-Authors: Fu-bo Cheng, Laurie J Ozelius, Xin-hua Wan, Jiachun Feng, Lin Wang, Ying Mai YangAbstract:Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 Mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the Mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel Silent Mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One Silent Mutation (c.267G>A) was shown to affect THAP1 expression.
Peter R Schofield - One of the best experts on this subject based on the ideXlab platform.
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progressive supranuclear palsy pathology caused by a novel Silent Mutation in exon 10 of the tau gene
Brain, 2000Co-Authors: Prudence M Stanford, Glenda M Halliday, William S Brooks, John B J Kwok, Catherine E Storey, Helen Creasey, John G Morris, Michael Fulham, Peter R SchofieldAbstract:Genetic Mutations in the tau gene on chromosome 17 are known to cause frontotemporal dementias. We have identified a novel Silent Mutation (S305S) in the tau gene in a subject without significant atrophy or cellular degeneration of the frontal and temporal cortices. Rather the cellular pathology was characteristic of progressive supranuclear palsy, with neurofibrillary tangles concentrating within the subcortical regions of the basal ganglia. Two affected family members presented with symptoms of dementia and later developed neurological deficits including abnormality of vertical gaze and extrapyramidal signs. The third presented with dystonia of the left arm and dysarthria, and later developed a supranuclear gaze palsy and falls. The Mutation is located in exon 10 of the tau gene and forms part of a stem–loop structure at the 5′ splice donor site. Although the Mutation does not give rise to an amino acid change in the tau protein, functional exon-trapping experiments show that it results in a significant 4.8-fold increase in the splicing of exon 10, resulting in the presence of tau containing four microtubule-binding repeats. This study provides direct molecular evidence for a functional Mutation that causes progressive supranuclear palsy pathology and demonstrates that Mutations in the tau gene are pleiotropic.
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progressive supranuclear palsy pathology caused by a novel Silent Mutation in exon 10 of the tau gene expansion of the disease phenotype caused by tau gene Mutations
Brain, 2000Co-Authors: Prudence M Stanford, Glenda M Halliday, William S Brooks, John B J Kwok, Catherine E Storey, Helen Creasey, John G Morris, Michael Fulham, Peter R SchofieldAbstract:Genetic Mutations in the tau gene on chromosome 17 are known to cause frontotemporal dementias. We have identified a novel Silent Mutation (S305S) in the tau gene in a subject without significant atrophy or cellular degeneration of the frontal and temporal cortices. Rather the cellular pathology was characteristic of progressive supranuclear palsy, with neurofibrillary tangles concentrating within the subcortical regions of the basal ganglia. Two affected family members presented with symptoms of dementia and later developed neurological deficits including abnormality of vertical gaze and extrapyramidal signs. The third presented with dystonia of the left arm and dysarthria, and later developed a supranuclear gaze palsy and falls. The Mutation is located in exon 10 of the tau gene and forms part of a stem-loop structure at the 5' splice donor site. Although the Mutation does not give rise to an amino acid change in the tau protein, functional exon-trapping experiments show that it results in a significant 4.8-fold increase in the splicing of exon 10, resulting in the presence of tau containing four microtubule-binding repeats. This study provides direct molecular evidence for a functional Mutation that causes progressive supranuclear palsy pathology and demonstrates that Mutations in the tau gene are pleiotropic.
Lin Wang - One of the best experts on this subject based on the ideXlab platform.
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thap1 dyt6 sequence variants in non dyt1 early onset primary dystonia in china and their effects on rna expression
Journal of Neurology, 2012Co-Authors: Fu-bo Cheng, Laurie J Ozelius, Xin-hua Wan, Jiachun Feng, Ling Yan, Ying Mai Yang, Lin WangAbstract:Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 Mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the Mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel Silent Mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One Silent Mutation (c.267G>A) was shown to affect THAP1 expression.
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1 261 thap1 dyt6 sequence variants in non dyt1 early onset primary dystonia in china and their effects on rna expression
Parkinsonism & Related Disorders, 2012Co-Authors: Fu-bo Cheng, Laurie J Ozelius, Xin-hua Wan, Jiachun Feng, Lin Wang, Ying Mai YangAbstract:Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 Mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the Mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel Silent Mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One Silent Mutation (c.267G>A) was shown to affect THAP1 expression.
Prudence M Stanford - One of the best experts on this subject based on the ideXlab platform.
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progressive supranuclear palsy pathology caused by a novel Silent Mutation in exon 10 of the tau gene
Brain, 2000Co-Authors: Prudence M Stanford, Glenda M Halliday, William S Brooks, John B J Kwok, Catherine E Storey, Helen Creasey, John G Morris, Michael Fulham, Peter R SchofieldAbstract:Genetic Mutations in the tau gene on chromosome 17 are known to cause frontotemporal dementias. We have identified a novel Silent Mutation (S305S) in the tau gene in a subject without significant atrophy or cellular degeneration of the frontal and temporal cortices. Rather the cellular pathology was characteristic of progressive supranuclear palsy, with neurofibrillary tangles concentrating within the subcortical regions of the basal ganglia. Two affected family members presented with symptoms of dementia and later developed neurological deficits including abnormality of vertical gaze and extrapyramidal signs. The third presented with dystonia of the left arm and dysarthria, and later developed a supranuclear gaze palsy and falls. The Mutation is located in exon 10 of the tau gene and forms part of a stem–loop structure at the 5′ splice donor site. Although the Mutation does not give rise to an amino acid change in the tau protein, functional exon-trapping experiments show that it results in a significant 4.8-fold increase in the splicing of exon 10, resulting in the presence of tau containing four microtubule-binding repeats. This study provides direct molecular evidence for a functional Mutation that causes progressive supranuclear palsy pathology and demonstrates that Mutations in the tau gene are pleiotropic.
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progressive supranuclear palsy pathology caused by a novel Silent Mutation in exon 10 of the tau gene expansion of the disease phenotype caused by tau gene Mutations
Brain, 2000Co-Authors: Prudence M Stanford, Glenda M Halliday, William S Brooks, John B J Kwok, Catherine E Storey, Helen Creasey, John G Morris, Michael Fulham, Peter R SchofieldAbstract:Genetic Mutations in the tau gene on chromosome 17 are known to cause frontotemporal dementias. We have identified a novel Silent Mutation (S305S) in the tau gene in a subject without significant atrophy or cellular degeneration of the frontal and temporal cortices. Rather the cellular pathology was characteristic of progressive supranuclear palsy, with neurofibrillary tangles concentrating within the subcortical regions of the basal ganglia. Two affected family members presented with symptoms of dementia and later developed neurological deficits including abnormality of vertical gaze and extrapyramidal signs. The third presented with dystonia of the left arm and dysarthria, and later developed a supranuclear gaze palsy and falls. The Mutation is located in exon 10 of the tau gene and forms part of a stem-loop structure at the 5' splice donor site. Although the Mutation does not give rise to an amino acid change in the tau protein, functional exon-trapping experiments show that it results in a significant 4.8-fold increase in the splicing of exon 10, resulting in the presence of tau containing four microtubule-binding repeats. This study provides direct molecular evidence for a functional Mutation that causes progressive supranuclear palsy pathology and demonstrates that Mutations in the tau gene are pleiotropic.
