The Experts below are selected from a list of 2508 Experts worldwide ranked by ideXlab platform
Margaret A Pericakvance - One of the best experts on this subject based on the ideXlab platform.
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a novel long and unstable cag ctg trinucleotide repeat on Chromosome 17q
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A PericakvanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
Thomas D Bird - One of the best experts on this subject based on the ideXlab platform.
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Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to Chromosome 17q25
Human Genetics, 2015Co-Authors: Joan E. Pellegrino, Thomas D Bird, Roberta A.v. George, Jacquelyn Biegel, Martin R. Farlow, Kathy Gardner, Judy Caress, Mark J. Brown, Timothy R. Rebbeck, Phillip F. ChanceAbstract:Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant disorder on Chromosome 17q, associated with recurrent, episodic, painful brachial plexus neuropathy. Dysmorphic features, including hypotelorism, long nasal bridge and facial asymmetry, are frequently associated with HNA. To assess genetic homogeneity, determine the cytogenetic location, and identify flanking markers for the HNA locus, six pedigrees were studied with multiple DNA markers from distal Chromosome 17q. The results in all pedigrees supported linkage of the HNA locus to Chromosome 17. A maximum combined lod score (Ζ = 10.94, £ = 0.05) was obtained with marker D17S939 and the maximum multipoint lod score was 22.768 in the interval defined by D17S802– D17S939. An analysis of crossovers placed the HNA locus within an approximate 4.0-cM interval flanked by D17S1603 and D17S802. Analysis of DNA from a human/mouse somatic cell hybrid with linked markers suggests that band 17q25 harbors the HNA locus. These results support genetic homogeneity within HNA and define a specific interval and a precise cytogenetic location in Chromosome 17q25 for this disorder.
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a novel long and unstable cag ctg trinucleotide repeat on Chromosome 17q
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A PericakvanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
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A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ☆
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A. Pericak-vanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
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mapping of hereditary neuralgic amyotrophy familial brachial plexus neuropathy to distal Chromosome 17q
Neurology, 1996Co-Authors: Joan E. Pellegrino, Thomas D Bird, Mark J. Brown, Timothy R. Rebbeck, Phillip F. ChanceAbstract:Hereditary neuralgic amyotrophy with predilection for the brachial plexus (HNA) is an autosomal dominant disorder associated with recurrent, episodic, painful brachial neuropathies.Mildly dysmorphic facial features, including hypotelorism, long nasal bridge, and upslanting palpebral fissures, are present in affected persons in some pedigrees with HNA. To determine the chromsomal location of the HNA gene, we carried out genetic linkage studies with polymerase chain reaction-based DNA markers in two large pedigrees. Linkage to markers from the distal long arm of Chromosome 17 was established. NEUROLOGY 1996;46: 1128-1132
Takeshi Ikeuchi - One of the best experts on this subject based on the ideXlab platform.
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a novel long and unstable cag ctg trinucleotide repeat on Chromosome 17q
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A PericakvanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
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A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ☆
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A. Pericak-vanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
Alexis Brice - One of the best experts on this subject based on the ideXlab platform.
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a novel long and unstable cag ctg trinucleotide repeat on Chromosome 17q
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A PericakvanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
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A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ☆
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A. Pericak-vanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
Gerry D Schellenberg - One of the best experts on this subject based on the ideXlab platform.
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a novel long and unstable cag ctg trinucleotide repeat on Chromosome 17q
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A PericakvanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.
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A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ☆
Genomics, 1998Co-Authors: Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Geraldine Cancel, Alexis Brice, Thomas D Bird, Gerry D Schellenberg, Margaret A. Pericak-vanceAbstract:Abstract Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on Chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to Chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10–26 repeat units, and allele L, 50–92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21–q23.