Search Results - "Monckton, D G"

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses by Monckton, D G, Wong, L J, Ashizawa, T, Caskey, C T

“…In order to characterize the dynamics of CTG repeat instability in somatic and germline tissue from myotonic dystrophy (DM) males we have used small pool…”
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Germline mutational dynamics in myotonic dystrophy type 1 males: Allele length and age effects by MARTORELL, L, GAMEZ, J, CAYUELA, M. L, GOULD, F. K, MCABNEY, J. P, ASHIZAWA, T, MONCKTON, D. G, BAIGET, M

“…The CTG repeat expansion causing myotonic dystrophy type 1 is unstable in the germline, and frequent intergenerational length changes are observed, giving rise…”
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Frequency and stability of the myotonic dystrophy type 1 premutation by MARTORELL, L, MONCKTON, D. G, SANCHEZ, A, LOPEZ DE MUNAIN, A, BAIGET, M

“…Myotonic dystrophy type 1 (DM1) is associated with the expansion of an unstable CTG repeat. Larger alleles are associated with a more severe form of the…”
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Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss by Spaans, F, Faber, C G, Smeets, H J M, Hofman, P A M, Braida, C, Monckton, D G, de Die-Smulders, C E M

“…Objective:To report new disease components in a unique myotonic dystrophy type 1 (DM1) family previously described by us in which all affected members also had…”
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Complex gene conversion events in germline mutation at human minisatellites by Jeffreys, Alec J, Tamaki, Keiji, MacLeod, Annette, Monckton, Darren G, Neil, David L, Armour, John A.L

“…Mutation at the human minisatellites MS32, MS205 and MS31A has been investigated by characterizing mutant alleles in pedigrees and in the case of MS32 by…”
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Mouse tissue culture models of unstable triplet repeats : in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates by GOMES-PEREIRA, Mario, FORTUNE, M. Teresa, MONCKTON, Darren G

“…The expansion of CAG.CTG trinucleotide repeats has been associated with an increasing number of human diseases. Once into the expanded disease-associated…”
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Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability by FORTUNE, M. T, VASSILOPOULOS, C, COOLBAUGH, M. I, SICILIANO, M. J, MONCKTON, D. G

“…Myotonic dystrophy type 1 (DM1) is one of a growing number of inherited human diseases whose molecular basis has been implicated as the expansion of a…”
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Cis-Acting Modifiers of Expanded CAG/CTG Triplet Repeat Expandability: Associations with Flanking GC Content and Proximity to CpG Islands by Brock, Graham J. R., Anderson, Niall H., Monckton, Darren G.

“…An increasing number of human genetic disorders are associated with the expansion of trinucleotide repeats. The majority of these diseases are associated with…”
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Progression of Somatic CTG Repeat Length Heterogeneity in the Blood Cells of Myotonic Dystrophy Patients by Martorell, Loreto, Monckton, Darren G., Gamez, José, Johnson, Keith J., Gich, Ignasi, de Munain, Adolfo Lopez, Baiget, Montserrat

“…The genetic basis of myotonic dystrophy (DM) is the expansion of an unstable CTG repeat in the 3′ UTR of the DM protein kinase gene on chromosome 19. One of…”
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Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood by van Cruchten, Remco T. P., van As, Daniël, Glennon, Jeffrey C., van Engelen, Baziel G. M., ‘t Hoen, Peter A. C., Okkersen, K, Jimenez-Moreno, C, Wenninger, S, Daidj, F, Cumming, S, Littleford, R, Monckton, D G, Lochmüller, H, Catt, M, Faber, C G, Hapca, A, Donnan, P T, Gorman, G, Bassez, G, Schoser, B, Knoop, H, Treweek, S, Wansink, Derick G., Impens, Francis, Gabriels, Ralf, Claeys, Tine, Ravel-Chapuis, Aymeric, Jasmin, Bernard J., Mahon, Niamh, Nieuwenhuis, Sylvia, Martens, Lennart, Novak, Petr, Furling, Denis, Baak, Arie, Gourdon, Genevieve, MacKenzie, Alex, Martinat, Cecile, Neault, Nafisa, Roos, Andreas, Duchesne, Elise, Salz, Renee, Thompson, Rachel, Baghdoyan, Sandrine, Varghese, Anu Mary, Blom, Paul, Spendiff, Sally, Manta, Alexander

“…Abstract Background Myotonic dystrophy type 1 (DM1) is an incurable multisystem disease caused by a CTG-repeat expansion in the DM1 protein kinase ( DMPK )…”
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Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent by WONG, L.-J. C, ASHIZAWA, T, MONCKTON, D. G, CASKEY, C. T, RICHARDS, C. S

“…The most common form of adult muscular dystrophy, myotonic dystrophy (DM), is caused by the abnormal expansion of the CTG repeat, located in the 3' UTR of the…”
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Minisatellite repeat coding as a digital approach to DNA typing by Jeffreys, Alec J, MacLeod, Annette, Tamaki, Keiji, Neil, David L, Monckton, Darren G

“…Most DNA typing systems used in forensic and legal medicine assay allelic length variation at tandem repetitive DNA regions such as minisatellites. A simple…”
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Hypermutable myotonic dystrophy CTG repeats in transgenic mice by Monckton, Darren G, Coolbaugh, Mary I, Ashizawa, Ken T, Siciliano, Michael J, Caskey, C. Thomas

“…Myotonic dystrophy (DM) is one of a growing number of inherited human disorders associated with the expansion of triplet repeat DNA sequences. Expanded alleles…”
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Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism by Monckton, Darren G, Neumann, Rita, Guram, Tara, Fretwell, Neale, Tamaki, Keiji, MacLeod, Annette, Jeffreys, Alec J

“…Human minisatellite mutation in the male germline frequently involves complex interallelic gene conversion events restricted to one end of the tandem repeat…”
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Unstable triplet repeat diseases by MONCKTON, D. G, CASKEY, C. T

“…Seven inherited human disorders are now associated with the intragenic expansion of triplet repeat DNA sequences. These repeats demonstrate extreme instability…”
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Characterization and Genomic Mapping of Genes and Pseudogenes of a New Human Protein Tyrosine Phosphatase by Zhao, Zhaoyang, Lee, Cheng-Chi, Monckton, Darren G., Yazdani, Ali, Coolbaugh, Mary I., Li, Xiaoru, Bailey, Jennifer, Shen, Ying, Caskey, C.Thomas

“…Previously described protein tyrosine phosphatases (PTPs) are classified into three types according to their sequence homology and structural features. Here we…”
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Allele-specific MVR-PCR analysis at minisatellite D1S8 by Monckton, D G, Tamaki, K, MacLeod, A, Neil, D L, Jeffreys, A J

“…Minisatellite variant repeat mapping by the polymerase chain reaction (MVR-PCR) provides a digital approach to DNA typing of great potential use both in…”
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Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice by Libby, Randell T., Monckton, Darren G., Fu, Ying-Hui, Martinez, Refugio A., McAbney, John P., Lau, R., Einum, David D., Nichol, K., Ware, Carol B., Ptacek, Louis J., Pearson, Christopher E., La Spada, Albert R.

“…Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the ataxin-7 gene. In humans, SCA7 is…”
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Minisatellite isoalleles can be distinguished by single-stranded conformational polymorphism analysis in agarose gels by Monckton, Darren G., Jeffreys, Alec J.

“…Minisatellite isoallelism, i.e. the occurrence of minisatellite alleles with different internal sequence composition but indistinguishable length, is a common…”
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Minisatellite "isoallele" discrimination in pseudohomozygotes by single molecule PCR and variant repeat mapping by Monckton, D G, Jeffreys, A J

“…The D1S8 hypervariable minisatellite MS32 has a heterozygosity of 97.5% based on detectable differences in allele length using standard Southern blot analysis…”
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