The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance

Autor: Victor-Emmanuel, Brett, Nicolas, Lechevalier, Franck, Trimoreau, Charles, Dussiau, Sophie, Dimicoli-Salazar, Lucie, Coster, Isabelle, Luquet, Nathalie, Nadal, Bénédicte, Ribourtout, Elise, Chapiro, Christine, Lefebvre, Sylvie, Tondeur, Estelle, Balducci, Florence, Nguyen-Khac, Claire, Borie, Isabelle, Radford-Weiss, Carole, Barin, Virginie, Eclache, Olivier, Mansier, Audrey, Bidet

Publikováno v: Genes, Chromosomes and Cancer. 62:139-151

Myelodysplastic syndromes (MDS) are hematological malignancies classically defined by the presence of cytopenia(s) and dysmorphic myeloid cells. It is now known that MDS can be preceded by a pre-malignant condition called clonal cytopenia of unknown

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a606dc63d5fb6bb96c58b22439a5d6
https://doi.org/10.1002/gcc.23107

Patient-Derived iPSCs Reveal Evidence of Telomere Instability and DNA Repair Deficiency in Coats Plus Syndrome

Autor: Noufissa Oudrhiri, Radhia M’kacher, Diana Chaker, Bruno Colicchio, Claire Borie, Eric Jeandidier, Alain Dieterlen, Frank Griscelli, Annelise Bennaceur-Griscelli, Ali G. Turhan

Publikováno v: Genes; Volume 13; Issue 8; Pages: 1395

Coats plus (CP) syndrome is an inherited autosomal recessive condition that results from mutations in the conserved telomere maintenance component 1 gene (CTC1). The CTC1 protein functions as a part of the CST protein complex, a protein heterotrimer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff959dedddc41e2cac80ac5ad8c50dc7
https://pubmed.ncbi.nlm.nih.gov/36011306

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy

Autor: Radhia M’Kacher, Marguerite Miguet, Pierre-Yves Maillard, Bruno Colicchio, Sophie Scheidecker, Wala Najar, Micheline Arnoux, Noufissa Oudrhiri, Claire Borie, Margaux Biehler, Andreas Plesch, Leonhard Heidingsfelder, Annelise Bennaceur-Griscelli, Alain Dieterlen, Philippe Voisin, Steffen Junker, Patrice Carde, Eric Jeandidier

Publikováno v: Genes; Volume 13; Issue 10; Pages: 1762

Telomeres play a major role in maintaining genome stability and integrity. Putative involvement of telomere dysfunction in the formation of various types of chromosomal aberrations is an area of active research. Here, we report a case of a six-month-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d31a2f9559c6330a1e72ada47c0981e
https://doi.org/10.3390/genes13101762

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

Autor: Wendy Kerbrat, Annelise Bennaceur-Griscelli, Philippe Voisin, Kevin Soehnlen, Wala Najar, Valentine Marquet, Marguerite Miguet, Andreas Plesch, Claire Borie, William M. Hempel, Nadège Wilhelm-Murer, Catherine Yardin, Anne-Claude Tabet, Noufissa Oudrhiri, Georges Deschenes, Michael Fenech, Bruno Colicchio, Micheline Fontaine Arnoux, Eric Jeandidier, Radhia M'kacher, Catherine Ferrapie, Alain Dieterlen, Theodore Girinsky, Leonhard Heidingsfelder, Patrice Carde, Steffen Junker

Publikováno v: Genes
Volume 11
Issue 5
M’kacher, R, Colicchio, B, Borie, C, Junker, S, Marquet, V, Heidingsfelder, L, Soehnlen, K, Najar, W, Hempel, W M, Oudrhiri, N, Wilhelm-Murer, N, Miguet, M, Arnoux, M, Ferrapie, C, Kerbrat, W, Plesch, A, Dieterlen, A, Girinsky, T, Voisin, P, Deschenes, G, Tabet, A C, Yardin, C, Bennaceur-Griscelli, A, Fenech, M, Carde, P & Jeandidier, E 2020, ' Telomere and centromere staining followed by m-fish improves diagnosis of chromosomal instability and its clinical utility ', Genes, vol. 11, no. 5, 475 . https://doi.org/10.3390/genes11050475
Genes, Vol 11, Iss 475, p 475 (2020)

Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and a poor clinical outcome. Here, we present Telomere and Centromere staining followed by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e01b6535156e46bc1fa6cc62b2d0903

Cytogenetics in the management of chronic lymphocytic leukemia: an update by the Groupe francophone de cytogénétique hématologique (GFCH)

Autor: Virginie Eclache, Claire Borie, Evelyne Callet-Bauchu, Florence Nguyen-Khac, Stéphanie Struski

Publikováno v: Annales de biologie clinique. 74:561-567

Acquired recurrent cytogenetic abnormalities are frequent in chronic lymphocytic leukaemia (CLL). They can be associated with good or poor prognostic factors, and also with gene mutations. Chromosomal abnormalities could be clonal or sub-clonal. Asse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::078d9b98bfc09b6193c28da983fcd8f7
https://doi.org/10.1684/abc.2016.1177