Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities

Autor: Claudine Junien, Nacira Tabti, Chantal Duros, Cédric Savouret, Nicolas Sergeant, Antoine Ghestem, Hervé Seznec, Gillian Butler-Browne, Onnik Agbulut, Geneviève Gourdon, Edith Brisson, Jean-Claude Willer, Lucie Ourth, André Delacourte, Coralie Fouquet

Publikováno v: Scopus-Elsevier
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2001, 10, pp.2717-2726
Human Molecular Genetics, 2001, 10, pp.2717-2726

The autosomal dominant mutation causing myotonic dystrophy (DM1) is a CTG repeat expansion in the 3'-UTR of the DM protein kinase (DMPK) gene. This multisystemic disorder includes myotonia, progressive weakness and wasting of skeletal muscle and extr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ddeb510f331ea33cbb6528d319763f6
https://doi.org/10.1093/hmg/10.23.2717

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability

Autor: Hervé Seznec, Geneviève Gourdon, Anne-Sophie Lia-Baldini, Céline Lacroix, Chantal Duros, Claudine Junien, Coralie Fouquet, Hélène Hofmann-Radvanyi

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2000, 9, pp.1185-1194

Myotonic dystrophy (DM) is caused by a CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene. A very high level of instability is observed through successive generations and the size of the repeat is generally correlated with the sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb070aaf7ffbd947f71b11dfe140cbf8
https://hal.inrae.fr/hal-02696854

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities

Autor: François Radvanyi, Hélène Hofmann-Radvanyi, Anne-Sophie Lia, Martine Blanche, Hervé Seznec, Geneviève Gourdon, Céline Saquet, Claudine Junien, Chantal Duros

Publikováno v: Scopus-Elsevier

A (CTG) n expansion in the 34-untranslated region (UTR) of the DM protein kinase gene (DMPK) is responsible for causing myotonic dystrophy (DM). Major instability, with very large expansions between generations and high levels of somatic mosaicism, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e84429cf263ccb08d8f3ce235e28898
https://pubmed.ncbi.nlm.nih.gov/9668171

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

Autor: Keith J. Johnson, Hélène Hofmann-Radvanyi, Chantal Duros, Jean-Pierre Rabès, Christian Lavedan, D Savoy, Claudine Junien

Publikováno v: Human molecular genetics. 2(8)

Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative cAMP-dependent protein kinase. The CTG repeat varies in length between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621a194c51853cc408539f6257fb3df4
https://pubmed.ncbi.nlm.nih.gov/7691346