Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents
Usman, M., Woloshynowych, M., Britto, J.C., Bilkevic, I., Glassar, B., Chapman, S., Ford-Adams, M.E., Desai, A., Bain, M., Tewfik, I. and Volpi, E. 2021. Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents. International Journal of Obesity. 45, p. 2095–2107. https://doi.org/10.1038/s41366-021-00879-2
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alić, I., Goh, P.A., Murray, A., Portelius, E., Gkanatsiou, E., Gough, G., Mok, K.Y., Koschut, D., Brunmeir, R., Yeap, Y.J., O'Brien, N.L., Groet, J., Shao, X,, Havlicek, S., Dunn, N.R., Kvartsberg, H., Brinkmalm, G., Hithersay, R,, Startin, C., Hamburg, S., Phillips, M., Pervushin, K., Turmaine, M., Wallon, D., Rovelet-Lecrux, A., Soininen, H., Volpi, E., Martin, J.E., Foo, J.N., Becker, D.L., Rostagno, A., Ghiso, J., Krsnik, Ž., Šimić, G., Kostović, I., Mitrečić, D., LonDownS Consortium, Francis, P.T., Blennow, K., Strydom, A., Hardy, J., Zetterberg, H. and Nižetić, D. 2021. Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry. 26, p. 5766–5788. https://doi.org/10.1038/s41380-020-0806-5
DNA damage in obesity: Initiator, promoter and predictor of cancer
Usman, M. and Volpi, E. 2018. DNA damage in obesity: Initiator, promoter and predictor of cancer. Mutation Research/Reviews in Mutation Research. 778, pp. 23-37. https://doi.org/10.1016/j.mrrev.2018.08.002
Whole genome analysis of a schistosomiasis-transmitting freshwater snail
Adema, C.M., Hillier, L.W., Jones, C.S., Loker, E.S., Knight, M., Minx, P., Oliveira, G., Raghavan, N., Shedlock, A., Rodrigues do Amaral, L., Arican-Goktas, H.D., Assis, A.G., Baba, E.H., Baron, O.L., Bayne, C.J., Bickham-Wright, U., Biggar, K.K., Blouin, M., Bonning, B.C., Botka, C., Bridger, J.M., Buckley, K.M., Buddenborg, S.K., Caldeira, R.L., Carleton, J., Carvalho, O.S., Castillo, M.G., Chalmers, I.W., Christensens, M., Clifton, S., Cosseau, C., Coustau, C., Cripps, R.M., Cuesta-Astroz, Y., Cummins, S.F., di Stephano, L., Dinguirard, N., Duval, D., Emrich, S., Feschotte, C., Feyereisen, R., FitzGerald, P., Fronick, C., Fulton, L., Galinier, R., Gave, S.G., Geusz, M., Geyer, K.K., Giraldo-Calderón, G.I., Gomes, M.D.S., Gordy, M.A., Gourbal, B., Grunau, C., Hanington, P.C., Hoffmann, K.F., Hughes, D., Humphries, J., Jackson, D.J., Jannotti-Passos, L.K., Jeremias, W.D.J., Jobling, S., Kamel, B., Kapusta, A., Kaur, S., Koene, J.M., Kohn, A.B., Lawson, D., Lawton, S.P., Liang, D., Limpanont, Y., Liu, S., Lockyer, A.E., Lovato, T.L., Ludolf, F., Magrini, V., McManus, D.P., Medina, M., Misra, M., Mitta, G., Mkoji, G.M., Montague, M.J., Montelongo, C., Moroz, L.L., Munoz-Torres, M.C., Niazi, U., Noble, L.R., Oliveira,, F.S., Pais, F.B., Papenfuss, A.T., Peace, R., Pena, J.J., Pila, E.A., Quelais, T., Raney, B.J., Rast, J.P., Rollinson, D., Rosse, I.C., Rotgans, B., Routledge, E.J., Ryan, K.M., Scholte, L.L.S., Storey, K.B., Swain, M., Tennessen, J.A., Tomlinson, C., Trujillo, D.L., Volpi, E., Walker, A.J., Wang, T., Wannaporn, I., Warren, W.C., Wu, X.J., Yoshino, T.P., Yusuf, M., Zhang, S.M., Zhao, M. and Wilson, R.K. 2017. Whole genome analysis of a schistosomiasis-transmitting freshwater snail. Nature Communications. 8, p. 15451 15451. https://doi.org/10.1038/ncomms15451
Expression patterns of CD180 in the lymph nodes of patients with chronic lymphocytic leukaemia
Edwards, K., Volpi, E., Lydyard, P., Zaitseva, K., Sayed, U., Krysov, S., Gribben, J., Nathwani, D.A. and Porakishvili, N. 2021. Expression patterns of CD180 in the lymph nodes of patients with chronic lymphocytic leukaemia. British Journal of Haematology. 195 (2), pp. e131-e134. https://doi.org/10.1111/bjh.17680
2024
Objectives and Achievements of the HUMN project on its 26th Anniversary2024
MD-1 downregulation is associated with reduced cell surface CD180 expression in CLL2024
Nutrigenomics-guided lifestyle intervention programmes: A critical scoping review with directions for future research2024
The buccal micronucleus cytome assay: New horizons for its implementation in human studies2023
The role of CD180 in hematological malignancies and inflammatory disorders2022
A correlational analysis of COVID-19 incidence and mortality and urban determinants of vitamin D status across the London boroughs2021
Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents2021
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain2021
Expression patterns of CD180 in the lymph nodes of patients with chronic lymphocytic leukaemia2017
Genome instability in childhood obesity: A conceptual framework for an assessment, intervention and monitoring programme of inflammation and DNA damage in paediatric obesity2015
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP22014
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder2014
Nanofluidics to Enhance Single Molecule DNA Imaging: Detecting Genomic Structural Variation in Humans2013
Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y2013
Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.2013
Comparative study of artificial chromosome centromeres in human and murine cells2013
Fully Streched Single DNA Molecules in a Nanofluidic Chip Show Large-Scale Structural Variation2012
High-resolution fish on DNA fibers for low-copy repeats genome architecture studies.2012
Structures of lysenin reveal a shared evolutionary origin for pore-forming proteins and its mode of sphingomyelin recognition2011
Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells2011
An improved technique for chromosomal analysis of human ES and iPS cells.2011
Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions2011
Perforin activity at membranes leads to invaginations and vesicle formation2011
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM32011
Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.2010
Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.2010
A novel three-dimensional culture system allows prolonged culture of functional human granulosa cells and mimics the ovarian environment.2010
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis.2009
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.2009
HAC stability in murine cells is influenced by nuclear localization and chromatin organization.2009
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.2009
Severe insulin resistance and intrauterine growth deficiency associated with haploin sufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism2008
FISH glossary: an overview of the fluorescence in situ hybridization technique.2007
Search for neuroblastoma loci: characterization of tumor cell lines that could facilitate their positional cloning.2007
Endothelial Nox2 overexpression potentiates vascular oxidative stress and hemodynamic response to angiotensin II: studies in endothelial-targeted Nox2 transgenic mice.2007
Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2.2006
The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci.2006
PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes.2005
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.2004
Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region2004
Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice2000
Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei.1998
Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples.1998
Nucleotide sequence and chromosomal mapping of the 5S rDNA repeat of the crustacean Proasellus coxalis.1997
Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes.1997
An integrated physical and genetic map spanning chromosome band 10q24.1996
Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site1996
More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization.1995
Simple DNA repeats and sex chromosome differentiation in asellus aquaticus (Crustacea, isopoda)1995
Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1.1994
Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57.1994
Telomeric sequences of ase/lus aquaticus (Crust. isop.)1994
Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1.1993
MULTIPRINS: a method for multicolour primed in situ labelling1992
Morphological differentiation of a sex chromosome and ribosomal genes in asellus aquaticus (Crust. Isop.)1991
GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda).1990
Light-dark cycle and mitotic index in Asellus aquaticus (L.) (Crustacea, Isopoda)1989
The genetic isolation between some populations of Proasellus coxalis1989
Characterization of the karyotype of proasellus meridianusby differential staining techniques2023
Biomonitoring and predictive modelling of genomic instability in childhood obesity2018
DNA damage in obesity: Initiator, promoter and predictor of cancer2018
In vivo modeling of human neuron dynamics and Down syndrome2018
PO-018 Acquired DNA damage in adolescent obesity – a promoter and predictor of cancer?2017
Whole genome analysis of a schistosomiasis-transmitting freshwater snail2014
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy2001
Cohesion, but not too close2000
Mini review: form and function in the human interphase chromosome1996
Taxonomic and biogeographic analysis of the Proasellus coxalis-group (Crustacea, Isopoda, Asellidae) in Sicily, with description of Proasellus montalentii n.sp.2019
Intact Sample Analysis2017
In situ hybridization: key concepts and applications2017
Formamide-free Fluorescence in situ Hybridization (FISH)2013
Chromosomes and nuclear organisation in ICF syndrome2010
Fluorescence in situ hybridization (FISH) for genomic investigations in rat2018
Acquired DNA damage in adolescent obesity – a promoter and predictor of cancer?2017
Evaluation of oxidative DNA damage, genome instability and accelerated genomic ageing in childhood obesity2017
Genome Instability in Childhood Obesity – a potential role for bariatric surgery in cancer prevention?2024
Single-telomere length analysis (STELA) identifies accelerated genome ageing in adolescents with severe obesity2022
Obesity as a genotoxic environment: how biomonitoring and predictive modelling of genomic instability in childhood obesity provide opportunities for early intervention2017
Evaluating Inflammatory and Genotoxic Consequences of Adiposity in Adolescents: a Non-Invasive Approach2017
Using virtual reality to prepare Bioscience students for practical classes2017
Fluorescence in situ Hybridization (FISH): challenges and opportunities in the post-genomic era2010
Fluorescence in situ hybridization (FISH): protocols and applications2024
Preprint: A foggy minefield: Experiences of regulation among developers of AI and other medical software in the UK, survey and focus group study2023
Different Conversations Podcast: Obesity as a genotoxic environment2022
The Digital Health Evidence Generator