Atypical 3q26/MECOM rearrangements genocopy inv(3)/t(3;3) in acute myeloid leukemia

Autor: Marije Havermans, Eric M.J. Bindels, Leonie Smeenk, Peter J. M. Valk, Stanley van Herk, Claudia Erpelinck, Roger Mulet-Lazaro, H. Berna Beverloo, Ruud Delwel, Robert van der Helm, Sophie Ottema, Torsten Haferlach, Claudia Haferlach, Tim Grob

Publikováno v: Blood, 136(2), 224-234. American Society of Hematology

Acute myeloid leukemia (AML) with inv(3)/t(3;3)(q21q26) is a distinct World Health Organization recognized entity, characterized by its aggressive course and poor prognosis. In this subtype of AML, the translocation of a GATA2 enhancer (3q21) to MECO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39746508b6b6cca70aa9cad92ddee879
https://pure.eur.nl/en/publications/acc03a4d-3b41-4de1-bdde-b1ef97734c2f

Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers

Autor: Michele Cornella, Tatiana Popova, Dorine Bellanger, Joshua J. Waterfall, Michel Wassef, Stéphane Dayot, Erik Lehnert, Malcy Tarin, Alexandre Houy, Marc-Henri Stern, Samar Alsafadi, Sergio Roman-Roman

Publikováno v: Oncogene
Oncogene, Nature Publishing Group, 2020, ⟨10.1038/s41388-020-01507-5⟩

Genes involved in 3′-splice site recognition during mRNA splicing constitute an emerging class of oncogenes. SF3B1 is the most frequently mutated splicing factor in cancer, and SF3B1 mutants corrupt branchpoint recognition leading to usage of crypt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfabf97c011776718bf36c794d5c3053
https://hal.sorbonne-universite.fr/hal-02988069/document

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy

Autor: Patrick M. A. Sleiman, Michael E. March, Mohamed Sager, Cuiping Hou, Lifeng Tian, Renata Pellegrino, Kenny Nguyen, Hakon Hakonarson, Yousef Housawi, Walid Dridi

Publikováno v: Human Mutation. 38:507-510

Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abd60090452f986c530cca0802f638d
https://doi.org/10.1002/humu.23188

Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology

Autor: Luciano H. Apponi, Bin Tian, Anita H. Corbett, Weiting Xu, Katherine E. Vest, Dinghai Zheng, Ayan Banerjee, Eric B. Dammer, Grace K. Pavlath, Brittany L. Phillips, Julia Yu

Publikováno v: Human molecular genetics. 26(17)

Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease caused by polyalanine expansion in the poly(A) binding protein nuclear 1 (PABPN1). Several mouse models have been generated to study OPMD; however, most of these models have employed t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f08a37be91ba4e2bab1419554a0936a
https://pubmed.ncbi.nlm.nih.gov/28575395

Schimke immunoosseous dysplasia: defining skeletal features

Autor: Lawrence R. Shoemaker, Jürgen Spranger, Robyn Cairns, Cristina Rusu, Jean Luc André, Barbara Hinkelmann, Beate Schmidt, Bertram F. Pontz, Doris Taha, Helen Fryssira, Guiliana Lama, Thomas Lücke, Jorge M. Saraiva, Stefan Fründ, David Goodman, Knut Helmke, Natasa Stajic, Petra Lamfers, Chantal Loirat, Sabine Sigaudy, Harika Alpay, Radovan Bogdanovic, Yumi Asakura, Silvia Majore, Kshamta B. Hunter, Dominique Bonneau, Sarah F. Smithson, Christy Mayfield, Cornelius F. Boerkoel, Karlien Cransberg

Publikováno v: European Journal of Pediatrics
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlag

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75061c6bbd7529a743f53f8089870c9d
https://doi.org/10.1007/s00431-009-1115-9