Recent publications published by researchers at the MRC WIMM.
The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.
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Truch J. et al, (2022), Nat Commun, 13
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker.
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Bozhilov YK. et al, (2021), Nat Commun, 12
An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells.
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Miyata M. et al, (2020), Blood, 136, 269 - 278
Genetic and functional insights into CDA-I prevalence and pathogenesis.
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Olijnik A-A. et al, (2020), J Med Genet
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
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Aitken S. et al, (2019), Am J Hum Genet, 105, 933 - 946
ATRX Contributes to MeCP2-Mediated Pericentric Heterochromatin Organization during Neural Differentiation.
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Marano D. et al, (2019), Int J Mol Sci, 20
Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier.
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Bradley CP. et al, (2019), Blood Adv, 3, 2627 - 2631
Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia.
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Mettananda S. et al, (2019), Sci Rep, 9
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
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O'Donnell-Luria AH. et al, (2019), Am J Hum Genet, 104, 1210 - 1222
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
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Gorman KM. et al, (2019), Am J Hum Genet, 104, 948 - 956
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
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Cleaver R. et al, (2019), Am J Med Genet A, 179, 344 - 349
The macroH2A1.2 histone variant links ATRX loss to alternative telomere lengthening.
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Kim J. et al, (2019), Nat Struct Mol Biol, 26, 213 - 219
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
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Blok LS. et al, (2019), Nat Commun, 10
The Loss of ATRX Increases Susceptibility to Pancreatic Injury and Oncogenic KRAS in Female But Not Male Mice.
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Young CC. et al, (2019), Cell Mol Gastroenterol Hepatol, 7, 93 - 113
Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors.
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Moir-Meyer G. et al, (2018), Methods Protoc, 1
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.
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Wafik M. et al, (2018), Eur J Med Genet, 61, 273 - 279
Mutant IDH1 Promotes Glioma Formation In Vivo.
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Philip B. et al, (2018), Cell Rep, 23, 1553 - 1564
Phenotypic and molecular characterization of a serum-free miniature erythroid differentiation system suitable for high-throughput screening and single-cell assays.
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Mettananda S. et al, (2018), Exp Hematol, 60, 10 - 20
Anaemia among females in child-bearing age: Relative contributions, effects and interactions of α- and β-thalassaemia.
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Mettananda S. et al, (2018), PLoS One, 13
How to Tackle Challenging ChIP-Seq, with Long-Range Cross-Linking, Using ATRX as an Example.
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Truch J. et al, (2018), Methods Mol Biol, 1832, 105 - 130