Lista de obras - Darren G Monckton - Dominio Público Uruguay

2010 Marigold therapeutic strategies for myotonic dystrophy

222nd ENMC International Workshop:

artículo científico publicado en 2018

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

artículo científico publicado en 2019

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

artículo científico publicado en 2019

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

artículo científico publicado en 2016

Activities of daily living in myotonic dystrophy type 1

artículo científico publicado en 2020

Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.

artículo científico publicado en 2002

Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice

artículo científico publicado en 2015

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes

artículo científico publicado en 2019

Allele-specific MVR-PCR analysis at minisatellite D1S8.

artículo científico publicado en 1993

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

scientific article published on 01 January 2004

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

artículo científico publicado en 2019

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

artículo científico publicado en 2021

Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome.

artículo científico publicado en 2001

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats

scientific article published on 01 January 2019

Brain imaging in myotonic dystrophy type 1: A systematic review

artículo científico publicado en 2017

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.

artículo científico publicado en 2017

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down

artículo científico publicado en 2006

Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat

artículo científico publicado en 2004

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

artículo científico publicado en 1999

Complex gene conversion events in germline mutation at human minisatellites

article

Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

artículo científico publicado en 2017

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content

artículo científico publicado en 2011

DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1

scientific article published on 23 May 2019

DNA methylation at the <i>DMPK</i> gene locus is associated with cognitive functions in myotonic dystrophy type 1

scientific article published on 10 December 2020

DNA methylation study of Huntington's disease and motor progression in patients and in animal models

scientific article published on 10 September 2020

DNA profiling.

artículo científico publicado en 1993

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

artículo científico publicado en 2018

Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene

artículo científico publicado en 2002

Disease burden of myotonic dystrophy type 1

artículo científico publicado en 2019

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

artículo científico publicado en 2014

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

artículo científico publicado en 2000

Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

artículo científico publicado en 2017

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

artículo científico publicado en 2009

Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

article

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR.

artículo científico publicado en 2017

Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8.

artículo científico publicado en 1993

Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy

article

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).

artículo científico publicado en 2017

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

scientific article published on 08 August 2019

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

artículo científico publicado en 2003

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

artículo científico publicado en 2004

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

artículo científico publicado en 2012

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

artículo científico publicado en 1997

Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility

artículo científico publicado en 2006

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

artículo científico publicado en 2007

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.

artículo científico publicado en 2002

Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.

artículo científico publicado en 1996

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

artículo científico publicado en 2019

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

artículo científico publicado en 2019

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice

artículo científico publicado en 2013

Manage risk of accidental gene editing of germline

artículo científico publicado en 2019

Minisatellite isoalleles can be distinguished by single-stranded conformational polymorphism analysis in agarose gels.

artículo científico publicado en 1994

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

artículo científico publicado en 1994

Minisatellite variant repeat (MVR) mapping: analysis of 'null' repeat units at D1S8

artículo científico publicado el 1 de septiembre de 1992

Minisatellite “isoallele” discrimination in pseudohomozygotes by single molecule PCR and variant repeat mapping ⬇️

artículo científico publicado el 1 de octubre de 1991

Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease

artículo científico publicado en 2013

Mouse Tissue Culture Models of Unstable Triplet Repeats

article

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

article

Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing.

artículo científico publicado en 2007

Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila.

artículo científico publicado en 2005

Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene.

artículo científico publicado en 1995

Noncanonical RNAs from transcripts of the Drosophila muscleblind gene

artículo científico publicado en 2006

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight

artículo científico publicado en 2018

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

artículo científico publicado en 2014

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.

artículo científico publicado en 2009

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

artículo científico publicado en 2004

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

scientific article published on 07 November 2020

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

artículo científico publicado en 1998

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

artículo científico publicado en 1995

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

artículo científico publicado en 2012

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

artículo científico publicado en 1995

Structural white matter networks in myotonic dystrophy type 1.

artículo científico publicado en 2018

Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

article

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

artículo científico publicado en 2017

Unstable triplet repeat diseases.

artículo científico publicado en 1995

Using robots to find needles

artículo científico publicado en 2005

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

artículo científico publicado en 2010

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

artículo científico publicado en 2020

Lista de obras de Darren G Monckton

2010 Marigold therapeutic strategies for myotonic dystrophy

222nd ENMC International Workshop:

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

Activities of daily living in myotonic dystrophy type 1

Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.

Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes

Allele-specific MVR-PCR analysis at minisatellite D1S8.

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome.

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats

Brain imaging in myotonic dystrophy type 1: A systematic review

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down

Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

Complex gene conversion events in germline mutation at human minisatellites

Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content

DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1

DNA methylation at the <i>DMPK</i> gene locus is associated with cognitive functions in myotonic dystrophy type 1

DNA methylation study of Huntington's disease and motor progression in patients and in animal models

DNA profiling.

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene

Disease burden of myotonic dystrophy type 1

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR.

Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8.

Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.

Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice

Manage risk of accidental gene editing of germline

Minisatellite isoalleles can be distinguished by single-stranded conformational polymorphism analysis in agarose gels.

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Minisatellite variant repeat (MVR) mapping: analysis of 'null' repeat units at D1S8

Minisatellite “isoallele” discrimination in pseudohomozygotes by single molecule PCR and variant repeat mapping ⬇️

Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease

Mouse Tissue Culture Models of Unstable Triplet Repeats

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

Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing.

Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila.

Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene.

Noncanonical RNAs from transcripts of the Drosophila muscleblind gene

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Structural white matter networks in myotonic dystrophy type 1.

Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

Unstable triplet repeat diseases.

Using robots to find needles

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1