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Ella J Wilkins
Researcher at Walter and Eliza Hall Institute of Medical Research
Publications - 10
Citations - 807
Ella J Wilkins is an academic researcher from Walter and Eliza Hall Institute of Medical Research. The author has contributed to research in topics: Platelet disorder & Missense mutation. The author has an hindex of 6, co-authored 9 publications receiving 693 citations. Previous affiliations of Ella J Wilkins include Florey Institute of Neuroscience and Mental Health.
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Journal ArticleDOI
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Christopher N. Hahn,Christopher N. Hahn,Chan-Eng Chong,Chan-Eng Chong,Catherine Carmichael,Ella J Wilkins,Ella J Wilkins,Peter J. Brautigan,Xiaochun Li,Milena Babic,Ming-Chih Lin,Amandine Carmagnac,Young Koung Lee,Chung H. Kok,Lucia Gagliardi,Kathryn Friend,Paul G Ekert,Carolyn M. Butcher,Anna L. Brown,Ian D. Lewis,Ian D. Lewis,L. Bik To,L. Bik To,Andrew E. Timms,Jan Storek,Sarah Moore,Meryl Altree,Robert Escher,Robert Escher,Peter Bardy,Graeme Suthers,Graeme Suthers,Richard J D'Andrea,Richard J D'Andrea,Marshall S. Horwitz,Hamish S. Scott +35 more
TL;DR: The discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene is reported and differential effects of the mutations on the transactivation of target genes, cellular differentiation, apoptosis and global gene expression are shown.
Journal ArticleDOI
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients
Carolyn M. Butcher,U Hahn,L. B. To,Jozef Gecz,Ella J Wilkins,Hamish S. Scott,Peter Bardy,Richard J D'Andrea +7 more
TL;DR: A specific acquired mutation in the key haematopoietic kinase, Janus kinase-2, JAK2V617F, occurs within the regulatory pseudokinase JAK homology-2 (JH2) domain of theJAK2 molecule and is proposed to result in release of autoinhibition of the JAK Homology-1 ( JH1) kinase domain.
Journal ArticleDOI
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
Marjolijn C.J. Jongmans,Roland P. Kuiper,Catherine Carmichael,Catherine Carmichael,Ella J Wilkins,Natasja Dors,Amandine Carmagnac,A. Y N Schouten-Van Meeteren,X. Li,M. Stankovic,Eveline J. Kamping,Henrik Bengtsson,Eric F.P.M. Schoenmakers,A. Geurts van Kessel,Peter M. Hoogerbrugge,Christopher N. Hahn,Paul P. T. Brons,Hamish S. Scott,Nicoline Hoogerbrugge +18 more
TL;DR: Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia are identified and clues for improved identification of the FPD/AML syndrome are identified.
Journal ArticleDOI
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Anna L. Brown,Anna L. Brown,Anna L. Brown,Peer Arts,Peer Arts,Catherine Carmichael,Milena Babic,Milena Babic,Julia Dobbins,Julia Dobbins,Chan-Eng Chong,Andreas W. Schreiber,Andreas W. Schreiber,Jinghua Feng,Jinghua Feng,Kerry Phillips,Paul Wang,Thuong Ha,Thuong Ha,Claire C. Homan,Claire C. Homan,Sarah L King-Smith,Sarah L King-Smith,Lesley Rawlings,Cassandra Vakulin,Andrew Dubowsky,Jessica Burdett,Sarah Moore,Grace McKavanagh,Denae Henry,Amanda Wells,Belinda Mercorella,Mario Nicola,Jeffrey Suttle,Ella J Wilkins,Xiaochun Li,Joëlle Michaud,Peter J. Brautigan,Peter J. Brautigan,Ping Cannon,Meryl Altree,Louise Jaensch,Miriam Fine,Carolyn M. Butcher,Carolyn M. Butcher,Richard J D'Andrea,Ian D. Lewis,Ian D. Lewis,Devendra K Hiwase,Devendra K Hiwase,Elli Papaemmanuil,Marshall S. Horwitz,Georges Natsoulis,Hugh Y. Rienhoff,Nigel Patton,Sally Mapp,Rachel Susman,Sue Morgan,Julian Cooney,Mark S. Currie,Uday R. Popat,Tilmann Bochtler,Shai Izraeli,Kenneth F. Bradstock,Lucy A. Godley,Alwin Krämer,Stefan Fröhling,Andrew H. Wei,Cecily Forsyth,Helen Mar Fan,Nicola K. Poplawski,Nicola K. Poplawski,Christopher N. Hahn,Christopher N. Hahn,Christopher N. Hahn,Hamish S. Scott +75 more
TL;DR: This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM.
Journal ArticleDOI
GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)
Hamish S. Scott,Christopher N. Hahn,Catherine Carmichael,Ella J Wilkins,Chan-Eng Chong,Peter J. Brautigan,Xiaochun Li,Milena Stankovic,Ming Lin,Amandine Carmagnac,Carolyn M. Butcher,Kathryn Friend,Paul G. Ekert,Chung H. Kok,Anna L. Brown,Ian D. Lewis,L. Bik To,Andrew E. Timms,Jan Storek,Sarah Moore,Meryl Altree,Robert Escher,Peter G Bardy,Graeme Suthers,Richard J D'Andrea,Marshall S. Horwitz +25 more
TL;DR: It is indicated that the down regulation of proapoptotic BCL-xS by T354M, but not WT, may be responsible for this phenotype, and competition assays show that these mutations may be acting in a dominant negative fashion in some biological contexts.