Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Monique F Smeets"'
Autor:
Wilson Castillo-Tandazo, Monique F Smeets, Vincent Murphy, Rui Liu, Charlotte Hodson, Jörg Heierhorst, Andrew J Deans, Carl R Walkley
Publikováno v:
PLoS Genetics, Vol 15, Iss 7, p e1008266 (2019)
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), skeletal dysplasia, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies such as osteos
Externí odkaz:
https://doaj.org/article/01bd7b3d2de84365b18d2557fe19cc5a
Autor:
Alvin J M Ng, Mannu K Walia, Monique F Smeets, Anthony J Mutsaers, Natalie A Sims, Louise E Purton, Nicole C Walsh, T John Martin, Carl R Walkley
Publikováno v:
PLoS Genetics, Vol 11, Iss 4, p e1005160 (2015)
RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly incre
Externí odkaz:
https://doaj.org/article/bb83b1c5ea104daab3ac3decd12cd2de
Autor:
Jane Jialu Xu, Alistair M. Chalk, Meaghan Wall, Wallace Y. Langdon, Monique F. Smeets, Carl R. Walkley
Publikováno v:
Leukemia. 36:2883-2893
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0af5c9e6c1e3d24889b78baf280772c
https://doi.org/10.1038/s41375-022-01727-6
https://doi.org/10.1038/s41375-022-01727-6
Autor:
ShuhYing Tan, Chacko Joseph, Alistair M. Chalk, Jean Hendy, Stewart Fabb, Kelli Schleibs, Samuel C. Lee, Gavin Tjin, Clea S. Grace, Vinodini Madugalle, Monique F. Smeets, Ana C. Maluenda, Kim L. Rice, Emma K. Baker, Harshal Nandurkar, Christopher I. Slape, Michael W Parker, Ashwin Unnikrishnan, Ghulam J. Mufti, Magnus Tobiasson, Eva Hellstrom-Lindberg, John E. Pimanda, Lorraine J. Gudas, Jessica K. Holien, Carl R. Walkley, Meaghan Wall, Louise E. Purton
The homeobox gene,Hoxa1, has two different isoforms generated by alternative splicing: a full-length homeodomain-containingHoxa1(Hoxa1-FL), and a truncatedHoxa1(Hoxa1-T), that lacks the homeodomain. Oncoretroviral overexpression of wildtypeHoxa1cDNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70e33ff44b2fdccd0e106a5dee92ae00
https://doi.org/10.1101/2023.04.24.538176
https://doi.org/10.1101/2023.04.24.538176
Autor:
Jane Jialu, Xu, Alistair M, Chalk, Meaghan, Wall, Wallace Y, Langdon, Monique F, Smeets, Carl R, Walkley
Publikováno v:
Leukemia. 36(12)
Recurrent mutations in RNA splicing proteins and epigenetic regulators contribute to the development of myelodysplastic syndrome (MDS) and related myeloid neoplasms. In chronic myelomonocytic leukemia (CMML), SRSF2 mutations occur in ~50% of patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4760ff18ad7586c7c187800d10b692f4
https://pubmed.ncbi.nlm.nih.gov/36271153
https://pubmed.ncbi.nlm.nih.gov/36271153