Výsledky vyhledávání - "Stéphanie Tomé"

Akademický článek

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

Autor: Stéphanie Tomé, Kevin Manley, Jodie P Simard, Greg W Clark, Meghan M Slean, Meera Swami, Peggy F Shelbourne, Elisabeth R M Tillier, Darren G Monckton, Anne Messer, Christopher E Pearson

Publikováno v: PLoS Genetics, Vol 9, Iss 2, p e1003280 (2013)

Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy. Broad ranges of repeat instability arise be

Externí odkaz: https://doaj.org/article/e0bb9127dfe5406088d109096406ad81

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Akademický článek

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

Autor: Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E Morris, Arnold Munnich, Christopher E Pearson, Geneviève Gourdon

Publikováno v: PLoS Genetics, Vol 5, Iss 5, p e1000482 (2009)

Myotonic dystrophy type 1 (DM1) is associated with one of the most highly unstable CTG*CAG repeat expansions. The formation of further repeat expansions in transgenic mice carrying expanded CTG*CAG tracts requires the mismatch repair (MMR) proteins M

Externí odkaz: https://doaj.org/article/bf78da2c9a4745ba884b68920d717ffd

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Identification of a CCG-enriched expanded allele in patients with myotonic dystrophy type 1 using amplification-free long-read sequencing

Autor: Yu-Chih Tsai, Laure de Pontual, Cheryl Heiner, Tanya Stojkovic, Denis Furling, Guillaume Bassez, Geneviève Gourdon, Stéphanie Tomé

Publikováno v: Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, In press, ⟨10.1016/j.jmoldx.2022.08.003⟩
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), In press, ⟨10.1016/j.jmoldx.2022.08.003⟩

Authorized uncorrected proof; International audience; Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations caused by an unstable CTG repeat expansion reaching up to 4000 CTG. The clinical variability depends on CTG re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e121590447ddd02f8e5fd2136db74aa
https://hal.science/hal-03832574

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Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Autor: Yu-Chi Tsai, Laure de Pontual, Cheryl Heiner, Tanya Stojkovic, Denis Furling, Guillaume Bassez, Geneviève Gourdon, Stéphanie Tomé

Publikováno v: PacBio users 2022
PacBio users 2022, May 2022, Paris, France
FASEB, The dynamic DNA structures in biology conference
FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada

International audience; Background: Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations caused by an unstable CTG repeat expansion reaching up to 4,000 CTG. The clinical variability depends on CTG repeat number, CNG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79943c3be1523a8b622c64d7c775b694
https://hal.sorbonne-universite.fr/hal-04004337

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Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1

Autor: Laure de Pontual, Stéphanie Tomé

Publikováno v: International journal of molecular sciences. 23(7)

Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7db121123101c7b68743febe2a726d
https://pubmed.ncbi.nlm.nih.gov/35408837

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[Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1]

Autor: Laure, de Pontual, Geneviève, Gourdon, Stéphanie, Tomé

Publikováno v: Medecine sciences : M/S.

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease caused by an abnormal CTG repeat expansion in the 3'UTR region of the DMPK gene. In patients, the CTG repeat size varies from fifty to thousands CTG and usually increases across

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a4a50b401ae0e372b377e7271511af3d
https://pubmed.ncbi.nlm.nih.gov/34878385

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Identification de nouveaux facteurs entraînant des contractions CTG.CAG dans la dystrophie myotonique de type 1

Autor: Laure de Pontual, Geneviève Gourdon, Stéphanie Tomé

Publikováno v: médecine/sciences
médecine/sciences, EDP Sciences, 2021, 37, pp.6-10. ⟨10.1051/medsci/2021182⟩
médecine/sciences, 2021, 37, pp.6-10. ⟨10.1051/medsci/2021182⟩

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease caused by an abnormal CTG repeat expansion in the 3’UTR region of the DMPK gene. In patients, the CTG repeat size varies from fifty to thousands CTG and usually increases acro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888482e4466ca8f26a2ddf272fa3b22c
https://hal.archives-ouvertes.fr/hal-03545515

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DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

Autor: Geneviève Gourdon, Stéphanie Tomé

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 2, p 457 (2020)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2020, 21 (2), pp.457. ⟨10.3390/ijms21020457⟩
International Journal of Molecular Sciences, MDPI, 2020, 21 (2), pp.457. ⟨10.3390/ijms21020457⟩

International audience; Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cytosine thymine guanine (CTG) repeat expansion in the DMPK gene. This disease is characterized by high clinical and genetic variability,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a00b6c24095068f3c8441592ea14885
https://www.mdpi.com/1422-0067/21/2/457

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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Publikováno v: The American Journal of Human Genetics. 100:488-505

CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large expansions, and almost exclusive maternal transmissio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d04fdc4968a551c425e61e4245e62c
https://doi.org/10.1016/j.ajhg.2017.01.033

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Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions

Autor: Stéphanie, Tomé, Geneviève, Gourdon

Publikováno v: Methods in molecular biology (Clifton, N.J.). 2056

Different interrupted repeat expansions have been found in several trinucleotide repeat (TNR) diseases such as fragile X syndrome (FXS), spinocerebellar ataxias (SCAs), and myotonic dystrophies (DMs). Their origins and roles remain poorly understood,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::21c2d3d1fdd4a244bcf8610650310f98
https://pubmed.ncbi.nlm.nih.gov/31586339

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