Features March 2025

• Evolving our understanding of cancer: an interview with Charles Swanton
  • Swanton C
  • Disease Models and Mechanisms
  • doi: 10.1242/dmm.052318

Reviews March 2025

• From computational models of the splicing code to regulatory mechanisms and therapeutic implications.
  • Capitanchik C, Wilkins OG, Wagner N, Gagneur J, Ule J
  • Nature Reviews Genetics
  • doi: 10.1038/s41576-024-00774-2

• Towards an integrated approach for understanding glia in amyotrophic lateral sclerosis.
  • Majewski S, Klein P, Boillée S, Clarke BE, Patani R
  • Glia
  • doi: 10.1002/glia.24622
  • PDF

• A unified model for cohesin function in sister chromatid cohesion and chromatin loop formation.
  • Uhlmann F
  • Molecular Cell
  • doi: 10.1016/j.molcel.2025.02.005
  • PDF

• Precision probing of O-GalNAc glycosylation using bump-and-hole engineering.
  • Zafar A, Schumann B
  • Chimia
  • doi: 10.2533/chimia.2025.146
  • PDF

Papers March 2025

• Differential response and recovery dynamics of HSPC populations following Plasmodium chabaudi infection.
  • Bruno F, Georgiou C, Cunningham D, Bett L, Secchi MA, Atkinson S, González Antón S, Birch F, Langhorne J, Lo Celso C
  • International Journal of Molecular Sciences
  • doi: 10.3390/ijms26062816
  • PDF

• Mycobacterium tuberculosis phagosome Ca2+ leakage triggers multimembrane ATG8/LC3 lipidation to restrict damage in human macrophages.
  • Chen D, Fearns A, Gutierrez MG
  • Science Advances
  • doi: 10.1126/sciadv.adt3311
  • PDF

• Hepatitis B Core-Related Antigen Point-of-Care Tests as a Risk Stratification Tool for Treatment Eligibility: Experience From Kenya.
  • Downs LO, Okanda D, Chirro O, Zaharani M, Safari B, Aliyan N, Andersson MI, Tanaka Y, Etyang AO, Shimakawa Y, Githinji G, Matthews PC
  • Open Forum Infectious Diseases
  • doi: 10.1093/ofid/ofaf125
  • PDF

• Tracking nongenetic evolution from primary to metastatic ccRCC: TRACERx Renal.
  • Fernández-Sanromán Á, Fendler A, Tan BJY, Cattin A-L, Spencer C, Thompson R, Au L, Lobon I, Pallikonda HA, Martin A, Byrne F, Franz A, Mikolajczak A, Rahman H, Tippu Z, Shepherd STC, Feng H, Deng D, Rowan A, Pickering L, Furness AJS, Young K, Nicol D, Rudman SM, O'Brien T, Edmonds K, Chandra A, Hazell S, Litchfield K, Kassiotis G, Larkin J, Turajlic S
  • Cancer Discovery
  • doi: 10.1158/2159-8290.CD-24-0499
  • PDF

• Impact of metformin on HBV replication: No evidence of suppression in vitro.
  • Hawkins C, Waddilove E, Matthews PC, Delphin M
  • Journal of Clinical Virology
  • doi: 10.1016/j.jcv.2025.105781
  • PDF

• High-throughput screening of human genetic variants by pooled prime editing.
  • Herger M, Kajba CM, Buckley M, Cunha A, Strom M, Findlay GM
  • Cell Genomics
  • doi: 10.1016/j.xgen.2025.100814
  • PDF

• Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene.
  • Jiang Y, Devito LG, Muntoni F, Healy L, Tedesco FS
  • Stem Cell Research
  • doi: 10.1016/j.scr.2024.103648
  • PDF

• BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
  • Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel A-L, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh T-C, C4RCD Research Group, Telethon Undiagnosed Disease Program (TUDP), University of Washington Center for Mendelian Genomics (UW-CMG), de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C
  • European Journal of Human Genetics
  • doi: 10.1038/s41431-024-01701-z
  • PDF

• Cryo-electron tomography reveals how COPII assembles on cargo-containing membranes
  • Pyle E, Miller EA, Zanetti G
  • Nature Structural and Molecular Biology
  • doi: 10.1038/s41594-024-01413-4
  • PDF

• Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12.
  • Romero-Vázquez S, Linkens K, Toualbi L, Jackson D, Méjécase C, Houlden H, Moosajee M
  • Stem Cell Research
  • doi: 10.1016/j.scr.2025.103661
  • PDF

• A novel de novo missense variant in netrin-1 (NTN1) associated with chorioretinal coloboma, sensorineural hearing loss and polydactyly.
  • Toms M, Heppell C, Owen N, Malka S, Moosajee M, Genomics England Research Consortium
  • Clinical Genetics
  • doi: 10.1111/cge.14651
  • PDF

Preprints March 2025

• Predictable engineering of signal-dependent cis-regulatory elements
  • Cornwall-Scoones J, Benzinger D, Yu T, Pezzotta A, Sagner A, Gerontogianni L, Bernadet S, Finnie E, Boezio GLM, Stuart HT, Melchionda M, Inge OCK, Dumitrascu B, Briscoe J, Delás MJ
  • doi: 10.1101/2025.03.07.642002

• PhotoNeuro: A compact photodetector for synchronization of visual stimulus presentation during behavioral experiments in neuroscience
  • Cano-Ferrer X, Moglie M, Konstantinou G, Blot A, Bianchini G, Imbert A, Znamenskiy P, Iacaruso MF
  • doi: 10.1101/2025.03.22.644703

• Drosophila AHR limits tumor growth and stem cell proliferation in the intestine
  • Tsai M, Sun J, Alexandre C, Shapiro M, Franchet A, Li Y, Gould AP, Vincent J-P, Stockinger B, Diny NL
  • doi: 10.12688/wellcomeopenres.23515.2

• PRMT activity promotes global 3’ UTR shortening in proliferating cells
  • Griffith L, Capitanchik C, Moore S, Farcas A, Gwynne M, Pedna M, Jones M, Chakrabarti A, Lagos D, Urosevic J, Lynch J, Ule J
  • doi: 10.1101/2025.03.06.641848

• Autologous human iPSC-derived Alveolus-on-Chip reveals early pathological events of M. tuberculosis infection
  • Luk J, Conway G, Goh KJ, Fearns A, Rodriguez-Hernandez I, D'Antuono R, Day NJ, Athanasiadi N, Pellegrino E, Hobi N, Stucki J, Gutierrez MG
  • doi: 10.1101/2025.03.14.643230

• A human induced pluripotent stem cell toolbox for studying sex chromosome effects
  • Meleckyte R, Varsally W, Zohren J, Eriksson J, Incitti T, Starnes L, Pointon A, Hicks R, Powell BE, Turner JMA
  • doi: 10.1101/2025.02.28.640277

• Mechanical fracturing of the extracellular matrix patterns the vertebrate heart
  • Chan Jin Jie C, Santos-Oliván D, Ramel M-C, Sánchez-Posada J, Andrews TGR, Paizakis P, Noël ES, Torres-Sánchez A, Priya R
  • doi: 10.1101/2025.03.07.641942

• Engineering cortical networks: An open platform for controlled human circuit formation and synaptic analysis in vitro
  • Suklai P, Minckley TF, Hagemann C, Faber K, Norkett R, Guetta L, O'Toole K, Geary B, Devine MJ, Serio A
  • doi: 10.1101/2025.03.07.642064

• Salmonella effector kinase SteC is activated by host-mediated phosphorylation
  • Pillay TD, Lemetais B, Huber J, Diaz Del Olmo I, Li Y, Masino L, Maslen S, Liu M, Esposito D, Hinton JCD, Yu X, Thurston TLM, Rittinger K
  • doi: 10.1101/2025.03.01.640964

• Mapping and quantifying nascent transcript start sites using TT-TSS-seq
  • Elgood Hunt E, Vivori C, van Werven F
  • doi: 10.1101/2025.03.25.645230

• DNA supercoiling impacts alternative transcription start site selection in yeast
  • Elgood Hunt E, Vivori C, van Werven FJ
  • doi: 10.1101/2025.03.25.645220

• Mechanism of DNA-protein crosslink bypass by CMG helicase
  • Kyaw MT, Xie S, de Lamo Peitz E, Yardimci H
  • doi: 10.1101/2025.03.06.641852