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Auteur Brook JD

Documents disponibles écrits par cet auteur (19)

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Article

Science translational medicine, 12, 541. CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model

Ketley A ; Wojciechowska M ; Ghidelli-Disse S ; Bamborough P ; Ghosh TK ; Morato ML ; Sedehizadeh S ; Malik NA ; Tang Z ; Powalowska P ; Tanner M ; Billeter-Clark R ; Trueman RC ; Geiszler PC ; Agostini A ; Othman O ; Bosche M ; Bantscheff M ; Rudiger M ; Mossakowska DE ; Drewry DH ; Zuercher WJ ; Thornton CA ; Drewes G ; Uings I ; Hayes CJ ; Brook JD | United States | 04/2020

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Article

Human molecular genetics, 23, 6. High content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC independent pathway in myotonic dystrophy cell lines

Ketley A ; Chen CZ ; Li X ; Arya S ; Robinson TE ; Granados-Riveron J ; Udosen I ; Morris GE ; Holt I ; Furling D ; Chaouch S ; Haworth B ; Southall N ; Shinn P ; Zheng W ; Austin CP ; Hayes CJ ; Brook JD | 2014

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Disease models and mechanisms, 4. Zebrafish deficient for muscleblind-like 2 exhibit features of myotonic dystrophy

Machuca-Tzili LE ; Buxton S ; Thorpe A ; Timson CM ; Wigmore P ; Luther PK ; Brook JD | 2011

Accès au résumé PubMed / to PubMed abstract

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Article

American journal of pathology (The), 174, 1. Muscleblind-like proteins. Similarities and differences in normal and myotonic dystrophy muscle

Holt I ; Jacquemin V ; Fardaei M ; Sewry CA ; Butler-Browne GS ; Furling D ; Brook JD ; Morris GE | 01/2009

Accès au résumé PubMed / to PubMed abstract

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Neuromuscular disorders : NMD, 18, 9-10. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles (Poster)

Collectif ; Holt I ; Mittal S ; Furling D ; Butler-Browne GS ; Brook JD ; Morris GE | 2008

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Neuromuscular disorders : NMD, 18, 9-10. Muscleblind-like proteins: Similarities and differences in normal and myotonic dystrophy muscle (Poster)

Collectif ; Holt I ; Furling D ; Fardaei M ; Sewry CA ; Jacquemin V ; Butler-Browne GS ; Brook JD ; Morris GE | 2008

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Article

Genes to cells, 12, 9. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Holt I ; Mittal S ; Furling D ; Butler-Browne GS ; Brook JD ; Morris GE | 2007

Accès au résumé PubMed / to PubMed abstract

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Article

Journal of medical genetics, 36, 1. Myotonic dystrophy : the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

Hamshere MG ; Harley H ; Harper PS ; Brook JD ; Brookfield JFY | 1999

Cette étude permet d'établir une relation statistiquement significative entre des données récentes de la biologie moléculaire et certains éléments de l'histoire naturelle de la dystrophie myotonique de Steinert. En effet, les auteurs ont établi [...]

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Article

American journal of human genetics (The), 52, 6. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

Harley HG ; Rundle SA ; MacMillan JC ; Myring J ; Brook JD ; Crow S ; Reardon W ; Fenton I ; Shaw DJ ; Harper PS | 1993

Accès au résumé PubMed / to PubMed abstract

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Article

Clinical genetics, 43. The DM mutation; diagnostic applications in the finnish population

Nokelainen P ; Shelbourne P ; Shaw DJ ; Brook JD ; Harley HG ; Johnson K ; Somer H ; Savontaus ML ; Peltonen L | 1993

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Article

Journal of medical genetics, 30, 3. A study of DNA methylation in myotonic dystrophy.

Shaw DJ ; Chaudhary S ; Rundle SA ; Crow S ; Brook JD ; Harper PS ; Harley HG | 1993

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Article

Cell, 68. Molecular basis of myotonic dystrophy : expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Brook JD ; McCurrach ME ; Harley HG ; Buckler AJ ; Church D ; Anuratani H | 1992

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Article

Genomics, 13. Radiation-reduced hybrids for the myotonic dystrophy locus

Brook JD ; Zemelman BV ; Hadingham K ; Siciliano MJ ; Crow S ; Harley HG | 1992

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Article

Human molecular genetics, 1, 6. Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat.

Crow SR ; Harley HG ; Brook JD ; Rundle SA ; Shaw DJ | 1992

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Article

Journal of medical genetics, 29, 11. Minimal expression of myotonic dystrophy : a clinical and molecular analysis.

Reardon W ; Harley HG ; Brook JD ; Rundle SA ; Crow S ; Harper PS ; Shaw DJ | 1992

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Article

Lancet (Ed. ang.), 339, 8802. Unstable DNA sequence in myotonic dystrophy

Harley HG ; Rundle SA ; Reardon W ; Myring J ; Crow S ; Brook JD | 1992

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Article

Nature, 355. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Harley HG ; Brook JD ; Rundle SA ; Crow S ; Reardon W ; Buckler AJ | 1992

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Article

American journal of human genetics (The), 49, 1. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

Harley HG ; Brook JD ; Floyd J ; Rundle SA ; Crow S ; Walsh KV | 1991

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Article

Human genetics, 87, 1. Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q

Harley HG ; Walsh KV ; Rundle S ; Brook JD ; Sarfarazi M ; Koch MC ; Floyd JL ; Harper PS ; Shaw DJ | 1991

Accès au résumé PubMed / to PubMed abstract

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Détail de l'auteur

Auteur Brook JD

Documents disponibles écrits par cet auteur (19)

Science translational medicine, 12, 541. CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model

Human molecular genetics, 23, 6. High content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC independent pathway in myotonic dystrophy cell lines

Disease models and mechanisms, 4. Zebrafish deficient for muscleblind-like 2 exhibit features of myotonic dystrophy

American journal of pathology (The), 174, 1. Muscleblind-like proteins. Similarities and differences in normal and myotonic dystrophy muscle

Neuromuscular disorders : NMD, 18, 9-10. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles (Poster)

Neuromuscular disorders : NMD, 18, 9-10. Muscleblind-like proteins: Similarities and differences in normal and myotonic dystrophy muscle (Poster)

Genes to cells, 12, 9. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Journal of medical genetics, 36, 1. Myotonic dystrophy : the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

American journal of human genetics (The), 52, 6. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

Clinical genetics, 43. The DM mutation; diagnostic applications in the finnish population

Journal of medical genetics, 30, 3. A study of DNA methylation in myotonic dystrophy.

Cell, 68. Molecular basis of myotonic dystrophy : expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Genomics, 13. Radiation-reduced hybrids for the myotonic dystrophy locus

Human molecular genetics, 1, 6. Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat.

Journal of medical genetics, 29, 11. Minimal expression of myotonic dystrophy : a clinical and molecular analysis.

Lancet (Ed. ang.), 339, 8802. Unstable DNA sequence in myotonic dystrophy

Nature, 355. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

American journal of human genetics (The), 49, 1. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

Human genetics, 87, 1. Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q