Genomic architecture differences at the HTT locus associated with symptomatic and pre-symptomatic cases of Huntington’s disease in a pilot study

Autor: Ewan Hunter, Christina Koutsothanasi, Alexandre Akoulitchev, Jennifer Back, Ryan Powell, Jurjen Westra, Matthew Salter, Aroul Ramadass, Francis H. Grand, Jayne Green

Publikováno v: Edelweiss: Psychiatry Open Access. :1-6

Background:Huntington’s disease (HD) is a progressive neurodegenerative condition that causes degeneration of neurons in the brain, ultimately leading to death. The root cause of HD is an expanded trinucleotide cytosine-adenine-guanine (CAG) repeat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd103dd1ad946750b9bc94ff87a4b5e5
https://doi.org/10.33805/2638-8073.131

X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1

Autor: Vivienne Maloney, Shuwen Huang, Sarah Ennis, Francis H. Grand, David J. Bunyan, John A. Crolla, David O. Robinson, Tristan F. W. McMullan, Samantha R. de Silva, Anthony G. Tyers

Publikováno v: Open Journal of Genetics. :415-425

Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::48cfb82105f51d5cc042536a328b0066
https://doi.org/10.4236/ojgen.2014.46039

The t(1;9)(p34;q34) fusing ABL1 with SFPQ, a pre-mRNA processing gene, is recurrent in acute lymphoblastic leukemias

Autor: Jeanne-Marie Libouton, Jean-Baptiste Demoulin, Pascale Saussoy, Sigrid De Wilde, François Duhoux, Hélène Poirel, Francis H. Grand, Nathalie Auger, Sebastian Wittnebel, Catherine Van den Berg, Khadija Bahloula, Geneviève Ameye

Publikováno v: Leukemia Research. 35:e114-e117

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2670356644c6fd3e5e8cfcd0af854dff
https://doi.org/10.1016/j.leukres.2011.02.011

Analysis of genomic breakpoints in p190 and p210 BCR–ABL indicate distinct mechanisms of formation

Autor: Manuel Sobrinho-Simões, Sebastian Kreil, Francis H. Grand, D Ward, Claire Hidalgo-Curtis, Junia V. Melo, Bertrand Nadel, R F Yeh, Maria-Jose Calasanz, Nicholas C.P. Cross, Joseph L. Wiemels, Joannah Score, Fabrizio Pane, O Ottman

Publikováno v: Leukemia
Leukemia, Nature Publishing Group: Open Access Hybrid Model Option B, 2010, 24 (10), pp.1742-50. ⟨10.1038/leu.2010.174⟩
Leukemia, 2010, 24 (10), pp.1742-50. ⟨10.1038/leu.2010.174⟩

International audience; We sought to understand the genesis of the t(9;22) by characterizing genomic breakpoints in chronic myeloid leukemia (CML) and BCR-ABL-positive acute lymphoblastic leukemia (ALL). BCR-ABL breakpoints were identified in p190 AL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afc6ec52dd8bd4c3d5409511fb076bfa
https://doi.org/10.1038/leu.2010.174

Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms

Autor: Katerina Zoi, Andreas Reiter, Katherine Waghorn, Andreas Hochhaus, Joannah Score, Thomas Ernst, Francis H. Grand, Amy V. Jones, Claire Hidalgo-Curtis, Nicholas C.P. Cross, Andrew Chase

Publikováno v: Haematologica. 95:1473-1480

Background Aberrant activation of tyrosine kinases, caused by either mutation or gene fusion, is of major importance for the development of many hematologic malignancies, particularly myeloproliferative neoplasms. We hypothesized that hitherto unreco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b257c45118049afb865651c37a601c85
https://doi.org/10.3324/haematol.2010.021808