Recent publications published by researchers at the MRC WIMM.
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Scott C. et al, (2021), Haematologica, 106, 2960 - 2970
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik A-A. et al, (2021), J Med Genet, 58, 185 - 195
Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors.
Moir-Meyer G. et al, (2018), Methods Protoc, 1
Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models.
Brackley CA. et al, (2016), Genome Biol, 17
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
Silva AM. et al, (2015), Hum Mol Genet, 24, 3457 - 3471
Chromatin organisation at the alpha globin locus
Brown JM. et al, (2015), CHROMOSOME RESEARCH, 23, 362 - 363
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C. et al, (2013), Haematologica, 98, 1383 - 1387
Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression
Schödel J. et al, (2012), Nature Genetics, 44, 420 - 425
Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.
Schödel J. et al, (2012), Nat Genet, 44, 420 - S2
Intragenic enhancers act as alternative promoters.
Kowalczyk MS. et al, (2012), Mol Cell, 45, 447 - 458
Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression
Schödel J. et al, (2012), Nature Genetics, 44, 420 - 425
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
Renella R. et al, (2011), Blood, 117, 6928 - 6938
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1α localization in erythroblasts
Renella R. et al, (2011), Blood, 117, 6928 - 6938
Codanin-1 Mutations In Congenital Dyserythropoietic Anemia Type 1 Affect HP1α Localization In Erythroblasts
Renella R. et al, (2010), BLOOD, 116, 441 - 442
Detection of nascent RNA transcripts by fluorescence in situ hybridization.
Brown JM. and Buckle VJ., (2010), Methods Mol Biol, 659, 33 - 50
Does Transcription of Remote α-Globin Regulatory Elements Affect Their Function?
Kowalczyk MS. et al, (2009), BLOOD, 114, 1557 - 1557
Association between active genes occurs at nuclear speckles and is modulated by chromatin environment.
Brown JM. et al, (2008), J Cell Biol, 182, 1083 - 1097
A Transgenic Mouse Model for Congenital Dyserythropoietic Anemia Type I
Renella R. et al, (2008), BLOOD, 112, 1185 - 1186
Coregulated human globin genes are frequently in spatial proximity when active.
Brown JM. et al, (2006), J Cell Biol, 172, 177 - 187
Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics.
Hajihosseini MK. et al, (2004), Development, 131, 325 - 335