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Publications

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

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

Include forthcoming?