Contribution of STAT3 and RAD23B in Primary Sézary Cells to Histone Deacetylase Inhibitor FK228 Resistance

Autor: Maria Demontis, Silvia A. Ferreira, Rosie M. Butler, Christine L. Jones, Tracey J. Mitchell, Isabella Tosi, Charlotte E. Flanagan, Robert C.T. McKenzie, Wesley J. Woollard, Sean Whittaker, Susan D. John

Publikováno v: Butler, R M, Mckenzie, R C, Jones, C L, Flanagan, C E, Woollard, W J, Demontis, M, Ferreira, S, Tosi, I, John, S, Whittaker, S J & Mitchell, T J 2019, ' Contribution of STAT3 and RAD23B in Primary Sézary Cells to Histone Deacetylase Inhibitor FK228 Resistance ', Journal of Investigative Dermatology, vol. 139, no. 9, pp. 1975-1984.e2 . https://doi.org/10.1016/j.jid.2019.03.1130

FK228 (romidepsin) and suberoylanilide hydroxamic acid (vorinostat) are histone deacetylase inhibitors (HDACi) approved by the US Food and Drug Administration for cutaneous T-cell lymphoma (CTCL), including the leukemic subtype Sezary syndrome. This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c639eeccf4bbbe400c2de80d80080b01
https://kclpure.kcl.ac.uk/ws/files/110043202/PIIS0022202X19313405.pdf

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Autor: Richard D. Emes, Petra zur Lage, Claire Hogg, Jean-Louis Blouin, Nicholas D. E. Greene, Miriam Schmidts, Dinu Antony, Jana Djakow, Federico Santoni, Stylianos E. Antonarakis, Eddie M. K. Chung, Amelia Shoemark, Alexandros Onoufriadis, Gerard Pals, Stavroula Petridi, Jeremy Bevillard, Giuseppe Gallone, Lucia Bartoloni, Michael A. Simpson, Nigel P. Mongan, Periklis Makrythanasis, Daniel J. Moore, Teresa Didonna, Hannah M. Mitchison, Andrew P. Jarman, Michel Guipponi, June K. Marthin, Wesley J. Woollard, Jane S. Lucas, Kim G. Nielsen, Sandra C. P. De Castro

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Vol. 93, No 2 (2013) pp. 346-356
American journal of human genetics, 93(2), 346-356. Cell Press
Moore, D J, Onoufriadis, A, Shoemark, A, Simpson, M A, zur Lage, P I, de Castro, S C, Bartoloni, L, Gallone, G, Petridi, S, Woollard, W J, Antony, D, Schmidts, M, Didonna, T, Makrythanasis, P, Bevillard, J, Mongan, N P, Djakow, J, Pals, G, Lucas, J S, Marthin, J K, Nielsen, K G, Santoni, F, Guipponi, M, Hogg, C, Antonarakis, S E, Emes, R D, Chung, E M K, Greene, N D E, Blouin, J L, Jarman, A P & Mitchison, H M 2013, ' Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia ', American journal of human genetics, vol. 93, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2013.07.009
Moore, D J, Onoufriadis, A, Shoemark, A, Simpson, M A, Zur Lage, P I, de Castro, S C, Bartoloni, L, Gallone, G, Petridi, S, Woollard, W J, Antony, D, Schmidts, M, Didonna, T, Makrythanasis, P, Bevillard, J, Mongan, N P, Djakow, J, Pals, G, Lucas, J S, Marthin, J K, Nielsen, K G, Santoni, F, Guipponi, M, Hogg, C, Antonarakis, S E, Emes, R D, Chung, E M K, Greene, N D E, Blouin, J-L, Jarman, A P & Mitchison, H M 2013, ' Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia ', American Journal of Human Genetics, vol. 93, no. 2, pp. 346-56 . https://doi.org/10.1016/j.ajhg.2013.07.009

Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Usi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7e2d3e66e793a6969210ac98b33aa6
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738835/

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Autor: Sarah F. Smithson, Charu Deshpande, Richard C. Trembath, Michael A. Simpson, Muriel Holder-Espinasse, Dimitra Dafou, Wesley J. Woollard, Melita Irving, Anand Saggar, Meriel McEntagart, Frances Elmslie, Wendy D. Jones

Publikováno v: The American Journal of Human Genetics. 91:358-364

Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of associated phenotypic features. We identified a cohort of six individuals with hypertrichos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dde5241c2fbfc64dd4d7ba93e5e3e71
https://doi.org/10.1016/j.ajhg.2012.06.008

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Autor: Ernie M.H.F. Bongers, Michael A. Simpson, Susan E. Holder, Gabriele Gillessen-Kaesbach, Ruthy Cohen-Snuijf, Wesley J. Woollard, Lisenka E.L.M. Vissers, Han G. Brunner, Dimitra Dafou, Charu Deshpande, Willie Reardon, Lies H. Hoefsloot, Ronny Derks, Richard C. Trembath, Susan M. White, Sarina G. Kant

Publikováno v: American Journal of Human Genetics, 90(2), 290-294
American Journal of Human Genetics, 90, 2, pp. 290-4
American Journal of Human Genetics, 90, 290-4

Item does not contain fulltext Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability. Using an exome-sequencing approach, we identifie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77b001d125e6c0f169234cd0ff4bdf74
https://doi.org/10.1016/j.ajhg.2011.11.024