Dr Vivien Bubb

Research Fellow Pharmacology & Therapeutics

+44 (0)151 794 5509
Work email Jillbubb@liverpool.ac.uk

Publications

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2024

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System. (Journal article)

Hughes, L. S., Fröhlich, A., Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Kõks, S. (2024). Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System.. Biomolecules, 14(3), 358. doi:10.3390/biom14030358

DOI: 10.3390/biom14030358

A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models. (Journal article)

Hall, A., Middlehurst, B., Cadogan, M. A. M., Reed, X., Billingsley, K. J., Bubb, V. J., & Quinn, J. P. (2024). A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.. Scientific reports, 14(1), 792. doi:10.1038/s41598-023-50307-w

DOI: 10.1038/s41598-023-50307-w

2023

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expression in the Central Nervous System (Preprint)

DOI: 10.20944/preprints202312.1981.v1

Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex. (Journal article)

Kulski, J. K., Pfaff, A. L., Marney, L. D., Fröhlich, A., Bubb, V. J., Quinn, J. P., & Koks, S. (2023). Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex.. Experimental biology and medicine (Maywood, N.J.), 248(23), 2304-2318. doi:10.1177/15353702231209411

DOI: 10.1177/15353702231209411

Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals. (Journal article)

Fröhlich, A., Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2023). Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals.. Experimental biology and medicine (Maywood, N.J.), 15353702231209427. doi:10.1177/15353702231209427

DOI: 10.1177/15353702231209427

Reference LINE-1 insertion polymorphisms correlate with Parkinson's disease progression and differential transcript expression in the PPMI cohort. (Journal article)

Fröhlich, A., Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2023). Reference LINE-1 insertion polymorphisms correlate with Parkinson's disease progression and differential transcript expression in the PPMI cohort.. Scientific reports, 13(1), 13857. doi:10.1038/s41598-023-41052-1

DOI: 10.1038/s41598-023-41052-1

A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis (Journal article)

Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2023). A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24(14). doi:10.3390/ijms241411548

DOI: 10.3390/ijms241411548

Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson’s disease progression (Preprint)

DOI: 10.21203/rs.3.rs-2667832/v1

Genome-Wide Analysis of Structural Variants in Parkinson Disease (Journal article)

Billingsley, K. J., Ding, J., Jerez, P. A., Illarionova, A., Levine, K., Grenn, F. P., . . . Singleton, A. (2023). Genome-Wide Analysis of Structural Variants in Parkinson Disease. ANNALS OF NEUROLOGY. doi:10.1002/ana.26608

DOI: 10.1002/ana.26608

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus. (Journal article)

Fröhlich, A., Hughes, L. S., Middlehurst, B., Pfaff, A. L., Bubb, V. J., Koks, S., & Quinn, J. P. (2023). CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus.. Frontiers in neurology, 14, 1273036. doi:10.3389/fneur.2023.1273036

DOI: 10.3389/fneur.2023.1273036

2022

Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis (Journal article)

Savage, A. L., Iacoangeli, A., Schumann, G. G., Rubio-Roldan, A., Garcia-Perez, J. L., Al Khleifat, A., . . . Quinn, J. P. (2022). Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis. GENE, 843. doi:10.1016/j.gene.2022.146799

DOI: 10.1016/j.gene.2022.146799

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression. (Journal article)

Marshall, J. N. G., Fröhlich, A., Li, L., Pfaff, A. L., Middlehurst, B., Spargo, T. P., . . . Quinn, J. P. (2022). A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression.. Frontiers in molecular neuroscience, 15, 954928. doi:10.3389/fnmol.2022.954928

DOI: 10.3389/fnmol.2022.954928

Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease (Journal article)

Koks, S., Pfaff, A. L., Singleton, L. M., Bubb, V. J., & Quinn, J. P. (2022). Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease. EXPERIMENTAL BIOLOGY AND MEDICINE, 247(18), 1680-1690. doi:10.1177/15353702221117147

DOI: 10.1177/15353702221117147

Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis (Journal article)

Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2022). Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis. MOLECULAR BRAIN, 15(1). doi:10.1186/s13041-022-00914-x

DOI: 10.1186/s13041-022-00914-x

Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription. (Journal article)

Koks, S., Pfaff, A. L., Bubb, V. J., & Quinn, J. P. (2022). Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription.. Experimental biology and medicine (Maywood, N.J.), 15353702221081027. doi:10.1177/15353702221081027

DOI: 10.1177/15353702221081027

Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus (Journal article)

Frohlich, A., Pfaff, A. L., Bubb, V. J., Koks, S., & Quinn, J. P. (2022). Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus. FRONTIERS IN MOLECULAR NEUROSCIENCE, 15. doi:10.3389/fnmol.2022.815695

DOI: 10.3389/fnmol.2022.815695

Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases (Chapter)

Kõks, S., Singleton, L. M., Quinn, J. P., Bubb, V. J., & Pfaff, A. L. (2022). Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases. In Neuromethods (pp. 63-77). Springer US. doi:10.1007/978-1-0716-2357-2_4

DOI: 10.1007/978-1-0716-2357-2_4

2021

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome. (Journal article)

Storm, C. S., Kia, D. A., Almramhi, M. M., Bandres-Ciga, S., Finan, C., International Parkinson’s Disease Genomics Consortium (IPDGC)., . . . Wood, N. W. (2021). Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.. Nature communications, 12(1), 7342. doi:10.1038/s41467-021-26280-1

DOI: 10.1038/s41467-021-26280-1

Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus (Preprint)

DOI: 10.21203/rs.3.rs-1065189/v1

Longitudinal intronic RNA-Seq analysis of Parkinson’s Disease patients reveals disease-specific nascent transcription (Journal article)

Kõks, S., Pfaff, A., Bubb, V., & Quinn, J. (2021). Longitudinal intronic RNA-Seq analysis of Parkinson’s Disease patients reveals disease-specific nascent transcription. doi:10.1101/2021.11.03.21265851

DOI: 10.1101/2021.11.03.21265851

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease. (Journal article)

Blauwendraat, C., Iwaki, H., Makarious, M. B., Bandres-Ciga, S., Leonard, H. L., Grenn, F. P., . . . International Parkinson's Disease Genomics Consortium (IPDGC). (2021). Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.. Annals of neurology, 90(1), 35-42. doi:10.1002/ana.26090

DOI: 10.1002/ana.26090

Identification of sixteen novel candidate genes for late onset Parkinson's disease. (Journal article)

Gialluisi, A., Reccia, M. G., Modugno, N., Nutile, T., Lombardi, A., Di Giovannantonio, L. G., . . . Esposito, T. (2021). Identification of sixteen novel candidate genes for late onset Parkinson's disease.. Molecular neurodegeneration, 16(1), 35. doi:10.1186/s13024-021-00455-2

DOI: 10.1186/s13024-021-00455-2

Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome (Journal article)

Koks, S., Pfaff, A. L., Bubb, V. J., & Quinn, J. P. (2021). Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(12). doi:10.3390/ijms22126319

DOI: 10.3390/ijms22126319

Variable number tandem repeats - Their emerging role in sickness and health (Journal article)

Marshall, J. N. G., Lopez, A. I., Pfaff, A. L., Koks, S., Quinn, J. P., & Bubb, V. J. (2021). Variable number tandem repeats - Their emerging role in sickness and health. EXPERIMENTAL BIOLOGY AND MEDICINE, 246(12), 1368-1376. doi:10.1177/15353702211003511

DOI: 10.1177/15353702211003511

Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression (Journal article)

Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2021). Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression. NPJ PARKINSONS DISEASE, 7(1). doi:10.1038/s41531-021-00189-4

DOI: 10.1038/s41531-021-00189-4

Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes (Journal article)

Koks, S., Pfaff, A. L., Bubb, V. J., & Quinn, J. P. (2021). Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes. GENES, 12(3). doi:10.3390/genes12030423

DOI: 10.3390/genes12030423

CRISPR Deletion of a SVA Retrotransposon Demonstrates Function as a cis-Regulatory Element at the TRPV1/TRPV3 Intergenic Region (Journal article)

Price, E., Gianfrancesco, O., Harrison, P. T., Frank, B., Bubb, V. J., & Quinn, J. P. (2021). CRISPR Deletion of a SVA Retrotransposon Demonstrates Function as a cis-Regulatory Element at the TRPV1/TRPV3 Intergenic Region. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(4). doi:10.3390/ijms22041911

DOI: 10.3390/ijms22041911

At the dawn of the transcriptomic medicine (Journal article)

Koks, G., Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2021). At the dawn of the transcriptomic medicine. EXPERIMENTAL BIOLOGY AND MEDICINE, 246(3), 286-292. doi:10.1177/1535370220954788

DOI: 10.1177/1535370220954788

Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the Apoe and Mapt Haplotypes (Journal article)

Koks, S., Pfaff, A., Bubb, V., & Quinn, J. (2021). Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the Apoe and Mapt Haplotypes. doi:10.20944/preprints202101.0149.v1

DOI: 10.20944/preprints202101.0149.v1

2020

Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis (Journal article)

Savage, A. L., Lopez, A. I., Iacoangeli, A., Bubb, V. J., Smith, B., Troakes, C., . . . Quinn, J. P. (2020). Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis. MOLECULAR BRAIN, 13(1). doi:10.1186/s13041-020-00694-2

DOI: 10.1186/s13041-020-00694-2

A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus (Journal article)

Hall, A., Moore, A. K., Hernandez, D. G., Billingsley, K. J., Bubb, V. J., & Quinn, J. P. (n.d.). A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus. International Journal of Molecular Sciences, 21(22), 8486. doi:10.3390/ijms21228486

DOI: 10.3390/ijms21228486

POLYMORPHIC REFERENCE SVAS ARE ASSOCIATED WITH PARKINSON'S DISEASE PROGRESSION MARKERS AND DIFFERENTIAL GENE EXPRESSION IN THE PPMI COHORT (Conference Paper)

Pfaff, A., Bubb, V., Quinn, J., & Koks, S. (2020). POLYMORPHIC REFERENCE SVAS ARE ASSOCIATED WITH PARKINSON'S DISEASE PROGRESSION MARKERS AND DIFFERENTIAL GENE EXPRESSION IN THE PPMI COHORT. In PARKINSONISM & RELATED DISORDERS Vol. 79 (pp. E30). Retrieved from https://www.webofscience.com/

An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort (Journal article)

Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2020). An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21(18). doi:10.3390/ijms21186562

DOI: 10.3390/ijms21186562

Reference SVA insertion polymorphisms are associated with dopaminergic degeneration in Parkinson’s Disease and differential gene expression in the PPMI cohort (Journal article)

Pfaff, A., Bubb, V., Quinn, J., & Koks, S. (2020). Reference SVA insertion polymorphisms are associated with dopaminergic degeneration in Parkinson’s Disease and differential gene expression in the PPMI cohort. doi:10.21203/rs.3.rs-41600/v1

DOI: 10.21203/rs.3.rs-41600/v1

Genetic interaction between two VNTRs in the MAOA gene is associated with the nicotine dependence (Journal article)

Koks, G., Prans, E., Ho, X. D., Duy, B. H., Tran, H. D. T., Ngo, N. B. T., . . . Koks, S. (2020). Genetic interaction between two VNTRs in the MAOA gene is associated with the nicotine dependence. EXPERIMENTAL BIOLOGY AND MEDICINE, 245(8), 733-739. doi:10.1177/1535370220916888

DOI: 10.1177/1535370220916888

2019

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (Journal article)

Nalls, M. A., Blauwendraat, C., Vallerga, C. L., Heilbron, K., Bandres-Ciga, S., Chang, D., . . . Zhang, F. (2019). Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet Neurology, 18(12), 1091-1102. doi:10.1016/s1474-4422(19)30320-5

DOI: 10.1016/s1474-4422(19)30320-5

The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome (Journal article)

Gianfrancesco, O., Geary, B., Savage, A. L., Billingsley, K. J., Bubb, V. J., & Quinn, J. P. (2019). The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 20(23). doi:10.3390/ijms20235977

DOI: 10.3390/ijms20235977

Distinct chromatin structures at the monoamine oxidase-A promoter correlate with allele-specific expression in SH-SY5Y cells (Journal article)

Manca, M., Pessoa, V., Myers, P., Pickles, A., Hill, J., Sharp, H., . . . Quinn, J. P. (2019). Distinct chromatin structures at the monoamine oxidase-A promoter correlate with allele-specific expression in SH-SY5Y cells. GENES BRAIN AND BEHAVIOR, 18(6). doi:10.1111/gbb.12483

DOI: 10.1111/gbb.12483

Non-coding genetic variation shaping mental health (Journal article)

Quinn, J. P., Savage, A. L., & Bubb, V. J. (2019). Non-coding genetic variation shaping mental health. CURRENT OPINION IN PSYCHOLOGY, 27, 18-24. doi:10.1016/j.copsyc.2018.07.006

DOI: 10.1016/j.copsyc.2018.07.006

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset (Journal article)

Billingsley, K. J., Barbosa, I. A., Bandres-Ciga, S., Quinn, J. P., Bubb, V. J., Deshpande, C., . . . IPDGC. (2019). Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. NPJ PARKINSONS DISEASE, 5. doi:10.1038/s41531-019-0080-x

DOI: 10.1038/s41531-019-0080-x

Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements (Journal article)

Billingsley, K., Quinn, J., & Bubb, V. (2019). Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements. Scientific Reports, 9. doi:10.1038/s41598-019-40869-z

DOI: 10.1038/s41598-019-40869-z

Retrotransposons in the development and progression of amyotrophic lateral sclerosis (Journal article)

Savage, A. L., Schumann, G., Breen, G., Bubb, V., Al-Chalabi, A., & Quinn, J. (2019). Retrotransposons in the development and progression of amyotrophic lateral sclerosis. Journal of Neurology Neurosurgery and Psychiatry, 90(3), 284-293. doi:10.1136/jnnp-2018-319210

DOI: 10.1136/jnnp-2018-319210

Treating the “E” in “G × E”: Trauma-Informed Approaches and Psychological Therapy Interventions in Psychosis (Journal article)

Gianfrancesco, O., Bubb, V. J., & Quinn, J. P. (2019). Treating the “E” in “G × E”: Trauma-Informed Approaches and Psychological Therapy Interventions in Psychosis. Frontiers in Psychiatry. doi:10.3389/fpsyt.2019.00009

DOI: 10.3389/fpsyt.2019.00009

2018

Regulatory characterisation of the schizophrenia-associated CACNA1C proximal promoter and the potential role for the transcription factor EZH2 in schizophrenia aetiology (Journal article)

Billingsley, K. J., Manca, M., Gianfrancesco, O., Collier, D., Sharp, H. M., Bubb, V. J., & Quinn, J. (2018). Regulatory characterisation of the schizophrenia-associated CACNA1C proximal promoter and the potential role for the transcription factor EZH2 in schizophrenia aetiology. Schizophrenia Research, 199, 168-175. doi:10.1016/j.schres.2018.02.036

DOI: 10.1016/j.schres.2018.02.036

The Regulation of Monoamine Oxidase A Gene Expression by Distinct Variable Number Tandem Repeats (Journal article)

Manca, M., Pessoa, V., Lopez, A. I., Harrison, P. T., Miyajima, F., Sharp, H., . . . Quinn, J. P. (2018). The Regulation of Monoamine Oxidase A Gene Expression by Distinct Variable Number Tandem Repeats. JOURNAL OF MOLECULAR NEUROSCIENCE, 64(3), 459-470. doi:10.1007/s12031-018-1044-z

DOI: 10.1007/s12031-018-1044-z

2017

SVA retrotransposons as potential modulators of neuropeptide gene expression (Journal article)

Gianfrancesco, O., Bubb, V. J., & Quinn, J. P. (2017). SVA retrotransposons as potential modulators of neuropeptide gene expression. NEUROPEPTIDES, 64, 3-7. doi:10.1016/j.npep.2016.09.006

DOI: 10.1016/j.npep.2016.09.006

Novel brain expressed RNA identified at the MIR137 schizophrenia-associated locus (Journal article)

Gianfrancesco, O., Warburton, A., Collier, D. A., Bubb, V. J., & Quinn, J. P. (2017). Novel brain expressed RNA identified at the MIR137 schizophrenia-associated locus. Schizophrenia Research, 184, 109-115. doi:10.1016/j.schres.2016.11.034

DOI: 10.1016/j.schres.2016.11.034

Potential impact of primate‐specific SVA retrotransposons during the evolution of human cognitive function. (Journal article)

Bubb, V. J., Quinn, J. P., Savage, A., Vasieva, O., Cetiner, S., & Schumann, G. G. (2017). Potential impact of primate‐specific SVA retrotransposons during the evolution of human cognitive function.. Trends in Evolutionary Biology. doi:10.4081/eb.2017.6514

DOI: 10.4081/eb.2017.6514

2016

Identification and Potential Regulatory Properties of Evolutionary Conserved Regions (ECRs) at the Schizophrenia-Associated MIR137 Locus (Journal article)

Gianfrancesco, O., Griffiths, D., Myers, P., Collier, D. A., Bubb, V. J., & Quinn, J. P. (2016). Identification and Potential Regulatory Properties of Evolutionary Conserved Regions (ECRs) at the Schizophrenia-Associated MIR137 Locus. JOURNAL OF MOLECULAR NEUROSCIENCE, 60(2), 239-247. doi:10.1007/s12031-016-0812-x

DOI: 10.1007/s12031-016-0812-x

A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression (Journal article)

Warburton, A., Breen, G., Bubb, V., & Quinn, J. (2016). A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression. Schizophrenia Bulletin, 42(4), 1003-1008. doi:10.1093/schbul/sbv144

DOI: 10.1093/schbul/sbv144

A TOMM40 poly-T variant modulates gene expression and is associated with vocabulary ability and decline in nonpathologic aging (Journal article)

Payton, A., Sindrewicz, P., Pessoa, V., Platt, H., Horan, M., Ollier, W., . . . Quinn, J. P. (2016). A TOMM40 poly-T variant modulates gene expression and is associated with vocabulary ability and decline in nonpathologic aging. Neurobiology of Aging, 39. doi:10.1016/j.neurobiolaging.2015.11.017

DOI: 10.1016/j.neurobiolaging.2015.11.017

2015

Characterization of a REST-Regulated Internal Promoter in the Schizophrenia Genome-Wide Associated Gene MIR137 (Journal article)

Warburton, A., Breen, G., Rujescu, D., Bubb, V., & Quinn, J. (2015). Characterization of a REST-Regulated Internal Promoter in the Schizophrenia Genome-Wide Associated Gene MIR137. Schizophrenia Bulletin, 41(3), 698-707. doi:10.1093/schbul/sbu117

DOI: 10.1093/schbul/sbu117

Molecular signatures of mood stabilisers highlight the role of the transcription factor REST/NRSF (Journal article)

Warburton, A., Savage, A. L., Myers, P., Peeney, D., Bubb, V. J., & Quinn, J. P. (2015). Molecular signatures of mood stabilisers highlight the role of the transcription factor REST/NRSF. JOURNAL OF AFFECTIVE DISORDERS, 172, 63-73. doi:10.1016/j.jad.2014.09.024

DOI: 10.1016/j.jad.2014.09.024

Characterisation of multiple regulatory domains spanning the major transcriptional start site of the FUS gene, a candidate gene for motor neurone disease (Journal article)

Khursheed, K., Wilm, T., Cashman, C., Quinn, J., Bubb, V., & Moss, D. (2015). Characterisation of multiple regulatory domains spanning the major transcriptional start site of the FUS gene, a candidate gene for motor neurone disease. Brain Research, 1595, 1-9. doi:10.1016/j.brainres.2014.10.056

DOI: 10.1016/j.brainres.2014.10.056

2014

An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS (Journal article)

Savage, A., Wilm, T., Khursheed, K., Shatunov, A., Morrison, K., Shaw, P., . . . Quinn, J. (2014). An Evaluation of a SVA Retrotransposon in the FUSPromoter as a Transcriptional Regulator and ItsAssociation to ALS. PLoS ONE, 9(6). doi:10.1371/journal.pone.0090833

DOI: 10.1371/journal.pone.0090833

SVA retrotransposons as modulators of gene expression. (Journal article)

Quinn, J. P., & Bubb, V. J. (2014). SVA retrotransposons as modulators of gene expression.. Mobile genetic elements, 4, e32102. doi:10.4161/mge.32102

DOI: 10.4161/mge.32102

2013

Polymorphic variation as a driver of differential neuropeptide gene expression (Journal article)

Quinn, J. P., Warburton, A., Myers, P., Savage, A. L., & Bubb, V. J. (2013). Polymorphic variation as a driver of differential neuropeptide gene expression. NEUROPEPTIDES, 47(6), 395-400. doi:10.1016/j.npep.2013.10.003

DOI: 10.1016/j.npep.2013.10.003

Allele-specific expression of the serotonin transporter and its transcription factors following lamotrigine treatment in vitro (Journal article)

D'Souza, U. M., Powell-Smith, G., Haddley, K., Powell, T. R., Bubb, V. J., Price, T., . . . Farmer, A. E. (2013). Allele-specific expression of the serotonin transporter and its transcription factors following lamotrigine treatment in vitro. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 162B(5), 474-483. doi:10.1002/ajmg.b.32178

DOI: 10.1002/ajmg.b.32178

Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns (Journal article)

Savage, A. L., Bubb, V. J., Breen, G., & Quinn, J. P. (2013). Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns. BMC EVOLUTIONARY BIOLOGY, 13. doi:10.1186/1471-2148-13-101

DOI: 10.1186/1471-2148-13-101

2012

CTCF and Sp1 interact with the Murine gammaherpesvirus 68 internal repeat elements (Journal article)

Stevens, H. C., Cham, K. S. -W., Hughes, D. J., Sun, R., Sample, J. T., Bubb, V. J., . . . Quinn, J. P. (2012). CTCF and Sp1 interact with the Murine gammaherpesvirus 68 internal repeat elements. VIRUS GENES, 45(2), 265-273. doi:10.1007/s11262-012-0769-y

DOI: 10.1007/s11262-012-0769-y

Intronic Tandem Repeat in the Serotonin Transporter Gene in Old World Monkeys: a New Transcriptional Regulator? (Journal article)

Paredes, U. M., Bubb, V. J., Haddley, K., Macho, G. A., & Quinn, J. P. (2012). Intronic Tandem Repeat in the Serotonin Transporter Gene in Old World Monkeys: a New Transcriptional Regulator?. JOURNAL OF MOLECULAR NEUROSCIENCE, 47(2), 401-407. doi:10.1007/s12031-011-9664-6

DOI: 10.1007/s12031-011-9664-6

Behavioural genetics of the serotonin transporter. (Journal article)

Haddley, K., Bubb, V. J., Breen, G., Parades-Esquivel, U. M., & Quinn, J. P. (2012). Behavioural genetics of the serotonin transporter.. Current topics in behavioral neurosciences, 12, 503-535. doi:10.1007/7854_2011_186

DOI: 10.1007/7854_2011_186

'Behavioural Genetics of the Serotonin Transporter'. (Journal article)

Haddley, K., Bubb, V. J., Breen, G., Parades-Esquivel, U. M., & Quinn, J. P. (2012). 'Behavioural Genetics of the Serotonin Transporter'.. Curr Top Behav Neurosci.

Activity-Dependent Neuroprotective Protein Modulates Its Own Gene Expression (Journal article)

Aboonq, M. S., Vasiliou, S. A., Haddley, K., Quinn, J. P., & Bubb, V. J. (2012). Activity-Dependent Neuroprotective Protein Modulates Its Own Gene Expression. JOURNAL OF MOLECULAR NEUROSCIENCE, 46(1), 33-39. doi:10.1007/s12031-011-9562-y

DOI: 10.1007/s12031-011-9562-y

The SLC6A4 VNTR genotype determines transcription factor binding and epigenetic variation of this gene in response to cocaine in vitro (Journal article)

Vasiliou, S. A., Ali, F. R., Haddley, K., Cardoso, M. C., Bubb, V. J., & Quinn, J. P. (2012). The SLC6A4 VNTR genotype determines transcription factor binding and epigenetic variation of this gene in response to cocaine in vitro. ADDICTION BIOLOGY, 17(1), 156-170. doi:10.1111/j.1369-1600.2010.00288.x

DOI: 10.1111/j.1369-1600.2010.00288.x

2011

A long AAAG repeat allele in the 5′ UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells (Journal article)

Galindo, C. L., McCormick, J. F., Bubb, V. J., Alkadem, D. H. A., Li, L. -S., McIver, L. J., . . . Garner, H. R. (2011). A long AAAG repeat allele in the 5′ UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells. BREAST CANCER RESEARCH AND TREATMENT, 130(1), 41-48. doi:10.1007/s10549-010-1237-9

DOI: 10.1007/s10549-010-1237-9

Lithium Chloride Regulation of the Substance P Encoding Preprotachykinin A, Tac1 Gene in Rat Hippocampal Primary Cells (Journal article)

Haddley, K., Spencer, E. M., Vasiliou, S. A., Howard, M., Thippeswamy, T., Bubb, V. J., & Quinn, J. P. (2011). Lithium Chloride Regulation of the Substance P Encoding Preprotachykinin A, Tac1 Gene in Rat Hippocampal Primary Cells. JOURNAL OF MOLECULAR NEUROSCIENCE, 45(2), 94-100. doi:10.1007/s12031-010-9431-0

DOI: 10.1007/s12031-010-9431-0

Distinct Gene Expression Profiles Directed by the Isoforms of the Transcription Factor Neuron-Restrictive Silencer Factor in Human SK-N-AS Neuroblastoma Cells (Journal article)

Gillies, S. G., Haddley, K., Vasiliou, S. A., Jacobson, G. M., von Mentzer, B., Bubb, V. J., & Quinn, J. P. (2011). Distinct Gene Expression Profiles Directed by the Isoforms of the Transcription Factor Neuron-Restrictive Silencer Factor in Human SK-N-AS Neuroblastoma Cells. JOURNAL OF MOLECULAR NEUROSCIENCE, 44(2), 77-90. doi:10.1007/s12031-010-9420-3

DOI: 10.1007/s12031-010-9420-3

An evolutionary conserved region (ECR) in the human dopamine receptor D4 gene supports reporter gene expression in primary cultures derived from the rat cortex (Journal article)

Paredes, U. M., Bubb, V. J., Haddley, K., Macho, G. A., & Quinn, J. P. (2011). An evolutionary conserved region (ECR) in the human dopamine receptor D4 gene supports reporter gene expression in primary cultures derived from the rat cortex. BMC NEUROSCIENCE, 12. doi:10.1186/1471-2202-12-46

DOI: 10.1186/1471-2202-12-46

Activity-Dependent Neuroprotective Protein Modulates Its Own Gene Expression. (Journal article)

Aboonq, M. S., Vasiliou, S. A., Haddley, K., Quinn, J. P., & Bubb, V. J. (2011). Activity-Dependent Neuroprotective Protein Modulates Its Own Gene Expression.. J Molecular Neuroscience.

An evolutionary conserved region (ECR) in the human dopamine receptor D4 gene supports reporter gene expression in primary cultures derived from the rat cortex. (Journal article)

Intronic Tandem Repeat in the Serotonin Transporter Gene in Old World Monkeys: a New Transcriptional Regulator? (Journal article)

Paredes, U. M., Bubb, V. J., Haddley, K., Macho, G. A., & Quinn, J. P. (2011). Intronic Tandem Repeat in the Serotonin Transporter Gene in Old World Monkeys: a New Transcriptional Regulator?. J Molecular Neuroscience.

The SLC6A4 VNTR genotype determines transcription factor binding and epigenetic variation of this gene in response to cocaine in vitro. (Journal article)

Vasiliou, S. A., Ali, F. R., Haddley, K., Cardoso, M. C., Bubb, V. J., & Quinn, J. P. (2011). The SLC6A4 VNTR genotype determines transcription factor binding and epigenetic variation of this gene in response to cocaine in vitro.. Addiction Biology.

2010

A long AAAG repeat allele in the 5' UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells. (Journal article)

Galindo, C. L., McCormick, J. F., Bubb, V. J., Abid Alkadem, D. H., Li, L. S., McIver, L. J., . . . Garner, H. R. (2010). A long AAAG repeat allele in the 5' UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells.. Breast Cancer Res Treat..

Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF (Journal article)

Ali, F. R., Vasiliou, S. A., Haddley, K., Paredes, U. M., Roberts, J. C., Miyajima, F., . . . Quinn, J. P. (2010). Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF. JOURNAL OF NEUROCHEMISTRY, 112(1), 296-306. doi:10.1111/j.1471-4159.2009.06453.x

DOI: 10.1111/j.1471-4159.2009.06453.x

Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF (Journal article)

Ali, F. R., Vasiliou, S. A., Haddley, K., Paredes, U. M., Roberts, J. C., Miyajima, F., . . . Quinn, J. P. (2010). Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF. Journal of Neurochemistry, 112(1), 296-306. doi:10.1111/j.1471-4159.2009.06453.x

DOI: 10.1111/j.1471-4159.2009.06453.x

Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF. (Journal article)

Distinct Gene Expression Profiles Directed by the Isoforms of the Transcription Factor Neuron-Restrictive Silencer Factor in Human SK-N-AS Neuroblastoma Cells. (Journal article)

Gillies, S. G., Haddley, K., Vasiliou, S. A., Jacobson, G. M., von Mentzer, B., Bubb, V. J., & Quinn, J. P. (2010). Distinct Gene Expression Profiles Directed by the Isoforms of the Transcription Factor Neuron-Restrictive Silencer Factor in Human SK-N-AS Neuroblastoma Cells.. J Mol Neurosci..

Lithium Chloride Regulation of the Substance P Encoding Preprotachykinin A, Tac1 Gene in Rat Hippocampal Primary Cells. (Journal article)

Haddley, K., Spencer, E. M., Vasiliou, S. A., Howard, M., Thippeswamy, T., Bubb, V. J., & Quinn, J. P. (2010). Lithium Chloride Regulation of the Substance P Encoding Preprotachykinin A, Tac1 Gene in Rat Hippocampal Primary Cells.. J Mol Neurosci..

Modulation of orbitofrontal response to amphetamine by a functional variant of DAT1 and in vitro confirmation. (Journal article)

Brotons, O., O'Daly, O. G., Guindalini, C., Howard, M., Bubb, J., Barker, G., . . . Shergill, S. S. (2010). Modulation of orbitofrontal response to amphetamine by a functional variant of DAT1 and in vitro confirmation.. Mol Psychiatry..

2009

A regulatory domain spanning the repeat sequence RE1 from herpes simplex virus type 1 has cell specific differential functions in trigeminal neurons and fibroblasts (Journal article)

Stevens, H. C., Fiskerstrand, C., Bubb, V. J., Dalziel, R., & Quinn, J. P. (2009). A regulatory domain spanning the repeat sequence RE1 from herpes simplex virus type 1 has cell specific differential functions in trigeminal neurons and fibroblasts. FEBS LETTERS, 583(20), 3335-3338. doi:10.1016/j.febslet.2009.09.037

DOI: 10.1016/j.febslet.2009.09.037

The human neurokinin B gene, TAC3, and its promoter are regulated by Neuron Restrictive Silencing Factor (NRSF) transcription factor family (Journal article)

Gillies, S., Haddley, K., Vasiliou, S., Bubb, V. J., & Quinn, J. P. (2009). The human neurokinin B gene, TAC3, and its promoter are regulated by Neuron Restrictive Silencing Factor (NRSF) transcription factor family. NEUROPEPTIDES, 43(4), 333-340. doi:10.1016/j.npep.2009.05.004

DOI: 10.1016/j.npep.2009.05.004

'A regulatory domain spanning the repeat sequence RE1 from herpes simplex virus type 1 has cell specific differential functions in trigeminal neurons and fibroblasts.' (Journal article)

Stevens, H. C., Fiskerstrand, C., Bubb, V. J., Dalziel, R., & Quinn, J. P. (2009). 'A regulatory domain spanning the repeat sequence RE1 from herpes simplex virus type 1 has cell specific differential functions in trigeminal neurons and fibroblasts.'. FEBS Letters, 583(20), 3335-3338.

2008

Regulation of activity-dependent neuroprotective, protein (ADNP) by the NO-cGMP pathway in the hippocampus during kainic acid-induced (Journal article)

Cosgrave, A. S., Mckay, J. S., Bubb, V., Morris, R., Quinn, J. P., & Thippeswamy, T. (2008). Regulation of activity-dependent neuroprotective, protein (ADNP) by the NO-cGMP pathway in the hippocampus during kainic acid-induced. NEUROBIOLOGY OF DISEASE, 30(3), 281-292. doi:10.1016/j.nbd.2008.02.005

DOI: 10.1016/j.nbd.2008.02.005

Molecular genetics of monoamine transporters: Relevance to brain disorders (Journal article)

Haddley, K., Vasiliou, A. S., Ali, F. R., Paredes, U. M., Bubb, V. J., & Quinn, J. P. (2008). Molecular genetics of monoamine transporters: Relevance to brain disorders. NEUROCHEMICAL RESEARCH, 33(4), 652-667. doi:10.1007/s11064-007-9521-8

DOI: 10.1007/s11064-007-9521-8

Expression of activity-dependent neuroprotective protein in the brain of adult rats (Journal article)

Gennet, N., Herden, C., Bubb, V. J., Quinn, J. P., & Kipar, A. (2008). Expression of activity-dependent neuroprotective protein in the brain of adult rats. HISTOLOGY AND HISTOPATHOLOGY, 23(3), 309-317. Retrieved from https://www.webofscience.com/

Expression of ADNP in the brain of adult rats. (Journal article)

Gennet, N., Herden, C., Bubb, V. J., Quinn, J. P., & Kipar, A. (2008). Expression of ADNP in the brain of adult rats.. Histology and Histopathology, 23(3), 209-217.

2007

Generation of a transgenic model to address regulation and function of the human neurokinin 1 receptor (NK1R) (Journal article)

Vasiliou, A. S., MacKenzie, A., Morris, R., McLaughlin, L., Bubb, V. J., Haddley, K., & Quinn, J. P. (2007). Generation of a transgenic model to address regulation and function of the human neurokinin 1 receptor (NK1R). Neuropeptides, 41(4), 195-205. doi:10.1016/j.npep.2007.04.005

DOI: 10.1016/j.npep.2007.04.005

Generation of a transgenic model to address regulation and function of the human neurokinin 1 receptor (NK1R) (Journal article)

Vasiliou, A. S., MacKenzie, A., Morris, R., McLaughlin, L., Bubb, V. J., Haddley, K., & Quinn, J. P. (2007). Generation of a transgenic model to address regulation and function of the human neurokinin 1 receptor (NK1R). NEUROPEPTIDES, 41(4), 195-205. doi:10.1016/j.npep.2007.04.005

DOI: 10.1016/j.npep.2007.04.005

Evidence of postnatal neurogenesis in dorsal root ganglion: Role of nitric oxide and neuronal restrictive silencer transcription factor (Journal article)

Arora, D. K., Cosgrave, A. S., Howard, M. R., Bubb, V., Quinn, J. P., & Thippeswamy, T. (2007). Evidence of postnatal neurogenesis in dorsal root ganglion: Role of nitric oxide and neuronal restrictive silencer transcription factor. JOURNAL OF MOLECULAR NEUROSCIENCE, 32(2), 97-107. doi:10.1007/s12031-007-0014-7

DOI: 10.1007/s12031-007-0014-7

Differential regulation of the serotonin transporter gene by lithium is mediated by transcription factors, CCCTC binding protein and Y-box binding protein 1, through the polymorphic intron 2 variable number tandem repeat (Journal article)

Roberts, J., Scott, A. C., Howard, M. R., Breen, G., Bubb, V. J., Klenova, E., & Quinn, J. P. (2007). Differential regulation of the serotonin transporter gene by lithium is mediated by transcription factors, CCCTC binding protein and Y-box binding protein 1, through the polymorphic intron 2 variable number tandem repeat. JOURNAL OF NEUROSCIENCE, 27(11), 2793-2801. doi:10.1523/JNEUROSCI.0892-06.2007

DOI: 10.1523/JNEUROSCI.0892-06.2007

2006

A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample (Journal article)

Guindalini, C., Howard, M., Haddley, K., Laranjeira, R., Collier, D., Ammar, N., . . . Breen, G. (2006). A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 103(12), 4552-4557. doi:10.1073/pnas.0504789103

DOI: 10.1073/pnas.0504789103

2004

YB-1 and CTCF differentially regulate the 5-HTT polymorphic intron 2 enhancer which predisposes to a variety of neurological disorders (Journal article)

Klenova, E., Scott, A. C., Roberts, J., Shamsuddin, S., Lovejoy, E. A., Bergmann, S., . . . Quinn, J. P. (2004). YB-1 and CTCF differentially regulate the 5-HTT polymorphic intron 2 enhancer which predisposes to a variety of neurological disorders. JOURNAL OF NEUROSCIENCE, 24(26), 5966-5973. doi:10.1523/JNEUROSCI.1150-04.2004

DOI: 10.1523/JNEUROSCI.1150-04.2004

2003

The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit (Journal article)

Lovejoy, E. A., Scott, A. C., Fiskerstrand, C. E., Bubb, V. J., & Quinn, J. P. (2003). The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit. EUROPEAN JOURNAL OF NEUROSCIENCE, 17(2), 417-420. doi:10.1046/j.1460-9568.2003.02446.x

DOI: 10.1046/j.1460-9568.2003.02446.x

2002

Neuron restrictive silencer factor as a modulator of neuropeptide gene expression (Journal article)

Quinn, J. P., Bubb, V. J., Marshall-Jones, Z. V., & Coulson, J. M. (2002). Neuron restrictive silencer factor as a modulator of neuropeptide gene expression. REGULATORY PEPTIDES, 108(2-3), 135-141. doi:10.1016/S0167-0115(02)00103-9

DOI: 10.1016/S0167-0115(02)00103-9

Evidence for an age-related influence of microsatellite instability on colorectal cancer survival. (Journal article)

Farrington, S. M., McKinley, A. J., Carothers, A. D., Cunningham, C., Bubb, V. J., Sharp, L., . . . Dunlop, M. G. (2002). Evidence for an age-related influence of microsatellite instability on colorectal cancer survival.. International journal of cancer, 98(6), 844-850. doi:10.1002/ijc.10264

DOI: 10.1002/ijc.10264

Neuron restrictive silencer factor as a modulator of neuropeptide gene expression. (Journal article)

Quinn, J. P., Bubb, V. J., Marshall-Jones, Z. V., & Coulson, J. M. (2002). Neuron restrictive silencer factor as a modulator of neuropeptide gene expression.. Regulatory Peptides, 108(2-3), 1-9.

2001

Adenomatous polyposis coli (APC), beta-catenin, and cadherin are expressed in human bone and cartilage. (Journal article)

Monaghan, H., Bubb, V. J., Sirimujalin, R., Millward-Sadler, S. J., & Salter, D. M. (2001). Adenomatous polyposis coli (APC), beta-catenin, and cadherin are expressed in human bone and cartilage.. Histopathology, 39(6), 611-619. doi:10.1046/j.1365-2559.2001.01287.x

DOI: 10.1046/j.1365-2559.2001.01287.x

Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study. (Journal article)

Andreyev, H. J., Norman, A. R., Cunningham, D., Oates, J., Dix, B. R., Iacopetta, B. J., . . . Urosevic, N. (2001). Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study.. British journal of cancer, 85(5), 692-696. doi:10.1054/bjoc.2001.1964

DOI: 10.1054/bjoc.2001.1964

2000

Familial adenomatous polyposis coli in South Africa--molecular basis and diagnosis. (Journal article)

Grobbelaar, J. J., Fortuin, R., Scholtz, C. L., Zikind, A., Langenhoven, E., Wyllie, A. H., . . . Kotze, M. J. (2000). Familial adenomatous polyposis coli in South Africa--molecular basis and diagnosis.. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 90(7), 715-719.

1999

Dysregulated expression of beta-catenin marks early neoplastic change in Apc mutant mice, but not all lesions arising in Msh2 deficient mice. (Journal article)

Kongkanuntn, R., Bubb, V. J., Sansom, O. J., Wyllie, A. H., Harrison, D. J., & Clarke, A. R. (1999). Dysregulated expression of beta-catenin marks early neoplastic change in Apc mutant mice, but not all lesions arising in Msh2 deficient mice.. Oncogene, 18(51), 7219-7225. doi:10.1038/sj.onc.1203181

DOI: 10.1038/sj.onc.1203181

Apoptosis and carcinogenesis. (Conference Paper)

Wyllie, A. H., Bellamy, C. O., Bubb, V. J., Clarke, A. R., Corbet, S., Curtis, L., . . . Bird, C. C. (1999). Apoptosis and carcinogenesis.. In British journal of cancer Vol. 80 Suppl 1 (pp. 34-37).

Caspase-mediated cleavage of APC results in an amino-terminal fragment with an intact armadillo repeat domain. (Journal article)

Webb, S. J., Nicholson, D., Bubb, V. J., & Wyllie, A. H. (1999). Caspase-mediated cleavage of APC results in an amino-terminal fragment with an intact armadillo repeat domain.. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 13(2), 339-346. doi:10.1096/fasebj.13.2.339

DOI: 10.1096/fasebj.13.2.339

1997

APC expression in normal human tissues. (Journal article)

Midgley, C. A., White, S., Howitt, R., Save, V., Dunlop, M. G., Hall, P. A., . . . Bubb, V. J. (1997). APC expression in normal human tissues.. The Journal of pathology, 181(4), 426-433. doi:3.0.co;2-t">10.1002/(sici)1096-9896(199704)181:4<426::aid-path768>3.0.co;2-t

DOI: 10.1002/(sici)1096-9896(199704)181:4<426::aid-path768>3.0.co;2-t

The pattern of K-ras mutation in pulmonary adenocarcinoma defines a new pathway of tumour development in the human lung. (Journal article)

Cooper, C. A., Carby, F. A., Bubb, V. J., Lamb, D., Kerr, K. M., & Wyllie, A. H. (1997). The pattern of K-ras mutation in pulmonary adenocarcinoma defines a new pathway of tumour development in the human lung.. The Journal of pathology, 181(4), 401-404. doi:3.0.co;2-y">10.1002/(sici)1096-9896(199704)181:4<401::aid-path799>3.0.co;2-y

DOI: 10.1002/(sici)1096-9896(199704)181:4<401::aid-path799>3.0.co;2-y

1996

Loss of heterozygosity at 5q21 in non-small cell lung cancer: a frequent event but without evidence of apc mutation. (Journal article)

Cooper, C. A., Bubb, V. J., Smithson, N., Carter, R. L., Gledhill, S., Lamb, D., . . . Carey, F. A. (1996). Loss of heterozygosity at 5q21 in non-small cell lung cancer: a frequent event but without evidence of apc mutation.. The Journal of pathology, 180(1), 33-37. doi:3.0.co;2-y">10.1002/(sici)1096-9896(199609)180:1<33::aid-path642>3.0.co;2-y

DOI: 10.1002/(sici)1096-9896(199609)180:1<33::aid-path642>3.0.co;2-y

Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer. (Journal article)

Bubb, V. J., Curtis, L. J., Cunningham, C., Dunlop, M. G., Carothers, A. D., Morris, R. G., . . . Wyllie, A. H. (1996). Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer.. Oncogene, 12(12), 2641-2649.

Polymorphism in serotonin transporter gene associated with susceptibility to major depression. (Journal article)

Ogilvie, A. D., Battersby, S., Bubb, V. J., Fink, G., Harmar, A. J., Goodwim, G. M., & Smith, C. A. (1996). Polymorphism in serotonin transporter gene associated with susceptibility to major depression.. Lancet (London, England), 347(9003), 731-733. doi:10.1016/s0140-6736(96)90079-3

DOI: 10.1016/s0140-6736(96)90079-3

Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer. (Journal article)

Dunlop, M. G., Farrington, S. M., Bubb, V. J., Cunningham, C., Wright, M., Curtis, L. J., . . . Wyllie, A. H. (1996). Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer.. British journal of cancer, 74(11), 1789-1795. doi:10.1038/bjc.1996.631

DOI: 10.1038/bjc.1996.631

Germline APC mutation (Gln1317) in a cancer-prone family that does not result in familial adenomatous polyposis. (Journal article)

White, S., Bubb, V. J., & Wyllie, A. H. (1996). Germline APC mutation (Gln1317) in a cancer-prone family that does not result in familial adenomatous polyposis.. Genes, chromosomes & cancer, 15(2), 122-128. doi:3.0.co;2-5">10.1002/(sici)1098-2264(199602)15:2<122::aid-gcc7>3.0.co;2-5

DOI: 10.1002/(sici)1098-2264(199602)15:2<122::aid-gcc7>3.0.co;2-5

1994

Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer. (Journal article)

Curtis, L. J., Bubb, V. J., Gledhill, S., Morris, R. G., Bird, C. C., & Wyllie, A. H. (1994). Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer.. Human molecular genetics, 3(3), 443-446. doi:10.1093/hmg/3.3.443

DOI: 10.1093/hmg/3.3.443

Erratum: Loss of heterozygosity of MCC is not associated with mutation at the retained allele in sporadic colorectal cancer (Human Molecular Genetics (1994) 3 (443-446)) (Journal article)

Curtis, L. J., Bubb, V. J., Gledhill, S., Morris, R. G., Bird, C. C., & Wyllie, A. H. (1994). Erratum: Loss of heterozygosity of MCC is not associated with mutation at the retained allele in sporadic colorectal cancer (Human Molecular Genetics (1994) 3 (443-446)). Human Molecular Genetics, 3(4), 684.

1993

The human papillomavirus type 6 and 16 E5 proteins are membrane-associated proteins which associate with the 16-kilodalton pore-forming protein. (Journal article)

Conrad, M., Bubb, V. J., & Schlegel, R. (1993). The human papillomavirus type 6 and 16 E5 proteins are membrane-associated proteins which associate with the 16-kilodalton pore-forming protein.. Journal of virology, 67(10), 6170-6178. doi:10.1128/jvi.67.10.6170-6178.1993

DOI: 10.1128/jvi.67.10.6170-6178.1993

1991

Bovine papillomavirus E5 oncoprotein binds to the 16K component of vacuolar H(+)-ATPases. (Journal article)

Goldstein, D. J., Finbow, M. E., Andresson, T., McLean, P., Smith, K., Bubb, V., & Schlegel, R. (1991). Bovine papillomavirus E5 oncoprotein binds to the 16K component of vacuolar H(+)-ATPases.. Nature, 352(6333), 347-349. doi:10.1038/352347a0

DOI: 10.1038/352347a0

1989

The E6 and E7 genes of the human papillomavirus type 16 together are necessary and sufficient for transformation of primary human keratinocytes. (Journal article)

Münger, K., Phelps, W. C., Bubb, V., Howley, P. M., & Schlegel, R. (1989). The E6 and E7 genes of the human papillomavirus type 16 together are necessary and sufficient for transformation of primary human keratinocytes.. Journal of virology, 63(10), 4417-4421. doi:10.1128/jvi.63.10.4417-4421.1989

DOI: 10.1128/jvi.63.10.4417-4421.1989

1988

DNA sequence of the HPV-16 E5 ORF and the structural conservation of its encoded protein. (Journal article)

Bubb, V., McCance, D. J., & Schlegel, R. (1988). DNA sequence of the HPV-16 E5 ORF and the structural conservation of its encoded protein.. Virology, 163(1), 243-246. doi:10.1016/0042-6822(88)90259-0

DOI: 10.1016/0042-6822(88)90259-0

Publications

2024

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System. (Journal article)

A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models. (Journal article)

2023

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expression in the Central Nervous System (Preprint)

Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex. (Journal article)

Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals. (Journal article)

Reference LINE-1 insertion polymorphisms correlate with Parkinson's disease progression and differential transcript expression in the PPMI cohort. (Journal article)

A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis (Journal article)

Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson’s disease progression (Preprint)

Genome-Wide Analysis of Structural Variants in Parkinson Disease (Journal article)

CRISPR deletion of a SINE-VNTR-<i>Alu</i> (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the <i>MAPT</i> locus. (Journal article)

2022

Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis (Journal article)

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene <i>CFAP410</i> correlates with differential isoform expression. (Journal article)

Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease (Journal article)

Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis (Journal article)

Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription. (Journal article)

Characterisation of the Function of a SINE-VNTR-<i>Alu</i> Retrotransposon to Modulate Isoform Expression at the <i>MAPT</i> Locus (Journal article)

Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases (Chapter)

2021

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome. (Journal article)

Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus (Preprint)

Longitudinal intronic RNA-Seq analysis of Parkinson’s Disease patients reveals disease-specific nascent transcription (Journal article)

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease. (Journal article)

Identification of sixteen novel candidate genes for late onset Parkinson's disease. (Journal article)

Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome (Journal article)

Variable number tandem repeats - Their emerging role in sickness and health (Journal article)

Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression (Journal article)

Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes (Journal article)

CRISPR Deletion of a SVA Retrotransposon Demonstrates Function as a <i>cis</i>-Regulatory Element at the <i>TRPV1/TRPV3</i> Intergenic Region (Journal article)

At the dawn of the transcriptomic medicine (Journal article)

Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the Apoe and Mapt Haplotypes (Journal article)

2020

Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis (Journal article)

A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus (Journal article)

POLYMORPHIC REFERENCE SVAS ARE ASSOCIATED WITH PARKINSON'S DISEASE PROGRESSION MARKERS AND DIFFERENTIAL GENE EXPRESSION IN THE PPMI COHORT (Conference Paper)

An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort (Journal article)

Reference SVA insertion polymorphisms are associated with dopaminergic degeneration in Parkinson’s Disease and differential gene expression in the PPMI cohort (Journal article)

Genetic interaction between two VNTRs in the MAOA gene is associated with the nicotine dependence (Journal article)

2019

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (Journal article)

The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome (Journal article)

Distinct chromatin structures at the monoamine oxidase-A promoter correlate with allele-specific expression in SH-SY5Y cells (Journal article)

Non-coding genetic variation shaping mental health (Journal article)

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset (Journal article)

Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements (Journal article)

Retrotransposons in the development and progression of amyotrophic lateral sclerosis (Journal article)

Treating the “E” in “G × E”: Trauma-Informed Approaches and Psychological Therapy Interventions in Psychosis (Journal article)

2018

Regulatory characterisation of the schizophrenia-associated CACNA1C proximal promoter and the potential role for the transcription factor EZH2 in schizophrenia aetiology (Journal article)

The Regulation of Monoamine Oxidase A Gene Expression by Distinct Variable Number Tandem Repeats (Journal article)

2017

SVA retrotransposons as potential modulators of neuropeptide gene expression (Journal article)

Novel brain expressed RNA identified at the MIR137 schizophrenia-associated locus (Journal article)

Potential impact of primate‐specific SVA retrotransposons during the evolution of human cognitive function. (Journal article)

2016

Identification and Potential Regulatory Properties of Evolutionary Conserved Regions (ECRs) at the Schizophrenia-Associated MIR137 Locus (Journal article)

A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression (Journal article)

A TOMM40 poly-T variant modulates gene expression and is associated with vocabulary ability and decline in nonpathologic aging (Journal article)

2015

Characterization of a REST-Regulated Internal Promoter in the Schizophrenia Genome-Wide Associated Gene MIR137 (Journal article)

Molecular signatures of mood stabilisers highlight the role of the transcription factor REST/NRSF (Journal article)

Characterisation of multiple regulatory domains spanning the major transcriptional start site of the FUS gene, a candidate gene for motor neurone disease (Journal article)

2014

An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS (Journal article)

SVA retrotransposons as modulators of gene expression. (Journal article)

2013

Polymorphic variation as a driver of differential neuropeptide gene expression (Journal article)

Allele-specific expression of the serotonin transporter and its transcription factors following lamotrigine treatment in vitro (Journal article)

Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns (Journal article)

2012

CTCF and Sp1 interact with the Murine gammaherpesvirus 68 internal repeat elements (Journal article)

Intronic Tandem Repeat in the Serotonin Transporter Gene in Old World Monkeys: a New Transcriptional Regulator? (Journal article)

Behavioural genetics of the serotonin transporter. (Journal article)

'Behavioural Genetics of the Serotonin Transporter'. (Journal article)

Activity-Dependent Neuroprotective Protein Modulates Its Own Gene Expression (Journal article)

The SLC6A4 VNTR genotype determines transcription factor binding and epigenetic variation of this gene in response to cocaine in vitro (Journal article)

2011