Dr Vivien Bubb
Research Fellow Pharmacology & Therapeutics
- +44 (0)151 794 5509
- Work email Jillbubb@liverpool.ac.uk
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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/biom14030358A 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-w2023
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)
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:10.1177/15353702231209411Transcriptomic 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:10.1177/15353702231209427Reference 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/s41598-023-41052-1A 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/ijms241411548Deciphering 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)
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.26608CRISPR 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)
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-<i>Alu</i> (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the <i>MAPT</i> locus.. Frontiers in neurology, 14, 1273036. doi:10.3389/fneur.2023.12730362022
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.2022.146799A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene <i>CFAP410</i> 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 <i>CFAP410</i> correlates with differential isoform expression.. Frontiers in molecular neuroscience, 15, 954928. doi:10.3389/fnmol.2022.954928Non-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:10.1177/15353702221117147Locus 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-xLongitudinal 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:10.1177/15353702221081027Characterisation of the Function of a SINE-VNTR-<i>Alu</i> Retrotransposon to Modulate Isoform Expression at the <i>MAPT</i> 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-<i>Alu</i> Retrotransposon to Modulate Isoform Expression at the <i>MAPT</i> Locus. FRONTIERS IN MOLECULAR NEUROSCIENCE, 15. doi:10.3389/fnmol.2022.815695Analysis 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_42021
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/s41467-021-26280-1Characterisation 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)
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:10.1101/2021.11.03.21265851Investigation 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.26090Identification 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/s13024-021-00455-2Expression 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/ijms22126319Variable 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:10.1177/15353702211003511Reference 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/s41531-021-00189-4Transcript 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/genes12030423CRISPR Deletion of a SVA Retrotransposon Demonstrates Function as a <i>cis</i>-Regulatory Element at the <i>TRPV1/TRPV3</i> 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 <i>cis</i>-Regulatory Element at the <i>TRPV1/TRPV3</i> Intergenic Region. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(4). doi:10.3390/ijms22041911At 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:10.1177/1535370220954788Transcript 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.v12020
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/s13041-020-00694-2A 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/ijms21228486POLYMORPHIC 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/ijms21186562Reference 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/v1Genetic 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:10.1177/15353702209168882019
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)30320-5The 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/ijms20235977Distinct 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.12483Non-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.2018.07.006Mitochondria 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-xAnalysis 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-zRetrotransposons 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-2018-319210Treating 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.2019.000092018
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.2018.02.036The 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-z2017
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.2016.09.006Novel 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.2016.11.034Potential 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.2017.65142016
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-xA 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/sbv144A 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.2015.11.0172015
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/sbu117Molecular 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.2014.09.024Characterisation 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.2014.10.0562014
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.0090833SVA 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.321022013
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.2013.10.003Allele-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.32178Characterisation 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:10.1186/1471-2148-13-1012012
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-yIntronic 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/s12031-011-9664-6Behavioural 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'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-yThe 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.x2011
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/s10549-010-1237-9Lithium 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/s12031-010-9431-0Distinct 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/s12031-010-9420-3An 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:10.1186/1471-2202-12-46Activity-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)
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, 46.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.xCombinatorial 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.xCombinatorial 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.. J Neurochem, 112((1)), 296-306.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.2009.09.037The 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'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.2008.02.005Molecular 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/s11064-007-9521-8Expression 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.2007.04.005Generation 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.2007.04.005Evidence 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/s12031-007-0014-7Differential 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.0892-06.20072006
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.05047891032004
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.1150-04.20042003
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.x2002
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)00103-9Evidence 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.10264Neuron 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.xKirsten 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.2001.19642000
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.1203181Apoptosis 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.13.2.3391997
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-tDOI: 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-yDOI: 10.1002/(sici)1096-9896(199704)181:4<401::aid-path799>3.0.co;2-y
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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-yDOI: 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)90079-3Extracolonic 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.1996.631Germline 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;2-5DOI: 10.1002/(sici)1098-2264(199602)15:2<122::aid-gcc7>3.0.co;2-5