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&lt;i&gt;phip&lt;/i&gt; - a novel candidate breast cancer susceptibility locus on 6q14.1 (2018)

Jiao, Xiang; Aravidis, Christos; Marikkannu, Rajeshwari; Rantala, Johanna; Picelli, Sim...

&lt;i&gt;phip&lt;/i&gt; - a novel candidate breast cancer susceptibility locus on 6q14.1 (2018)

Jiao, Xiang; Aravidis, Christos; Marikkannu, Rajeshwari; Rantala, Johanna; Picelli, Simone; Adamovic, Tatjana; Liu, Tao; Maguire, Paula; Kremeyer, Barbara; Luo, Liping; von Holst, Susanna; Kontham, Vinaykumar; Thutkawkorapin, Jessada; Margolin, Sara; Du, Quan; Lundin, Johanna; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe

Abstract:

Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD &gt; 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our pr...

http://hdl.handle.net/10379/12095

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A community-engaged assessment of barriers and facilitators to rapid stroke treatment (2018)

Nemeth, Lynne S.; Jenkins, Carolyn; Jauch, Edward C.; Conway, Sharon; Pearlman, Adam; S...

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A comparative examination of healthcare use related to hearing impairment in europe (2018)

Xiao, Mimi; O’Neill, Ciaran

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A cross-national study of violence-related behaviors in adolescents (2018)

Smith-Khuri, Eleanor; Iachan, Ronaldo; Scheidt, Peter C.; Overpeck, Mary D.; Nic Gabhai...

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A new measure of multimorbid illness and treatment representations: the example of diabetes and depression (2016)

McSharry, Jennifer

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Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function, and bipolar disorder susceptibility (2014)

DONOHOE, GARY; MORRIS, DEREK; GILL, MICHAEL

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Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function (2020)

Flynn, Mairéad; Whitton, Laura; Donohoe, Gary; Morrison, Ciaran G.; Morris, Derek W.

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Ambra1 links autophagy to cell proliferation and tumorigenesis by promoting c-myc dephosphorylation and degradation (2018)

Cianfanelli, Valentina; Fuoco, Claudia; Lorente, Mar; Salazar, Maria; Quondamatteo, Fab...

Ambra1 links autophagy to cell proliferation and tumorigenesis by promoting c-myc dephosphorylation and degradation (2018)

Cianfanelli, Valentina; Fuoco, Claudia; Lorente, Mar; Salazar, Maria; Quondamatteo, Fabio; Gherardini, Pier Federico; De Zio, Daniela; Nazio, Francesca; Antonioli, Manuela; D’Orazio, Melania; Skobo, Tatjana; Bordi, Matteo; Rohde, Mikkel; Dalla Valle, Luisa; Helmer-Citterich, Manuela; Gretzmeier, Christine; Dengjel, Joern; Fimia, Gian Maria; Piacentini, Mauro; Di Bartolomeo, Sabrina

Abstract:

Inhibition of a main regulator of cell metabolism, the protein kinase mTOR, induces autophagy and inhibits cell proliferation. However, the molecular pathways involved in the cross-talk between these two mTOR-dependent cell processes are largely unknown. Here we show that the scaffold protein AMBRA1, a member of the autophagy signalling network and a downstream target of mTOR, regulates cell proliferation by facilitating the dephosphorylation and degradation of the proto-oncogene c-Myc. We found that AMBRA1 favours the interaction between c-Myc and its phosphatase PP2A and that, when mTOR is inhibited, it enhances PP2A activity on this specific target, thereby reducing the cell division rate. As expected, such a de-regulation of c-Myc correlates with increased tumorigenesis in AMBRA1-defective systems, thus supporting a role for AMBRA1 as a haploinsufficient tumour suppressor gene.

http://hdl.handle.net/10379/10785

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An evaluation of cro� myaction community lifestyle modification programme compared to standard care to reduce progression to diabetes/pre-diabetes in women with prior gestational diabetes mellitus (gdm): study protocol for a randomised controlled trial (2018)

Infanti, Jennifer J; Dunne, Fidelma P; O�Dea, Angela; Gillespie, Paddy; Gibson, Irene; ...

Infanti, Jennifer J; Dunne, Fidelma P; O�Dea, Angela; Gillespie, Paddy; Gibson, Irene; Glynn, Liam G; Noctor, Eoin; Newell, John; McGuire, Brian E

Abstract:

Background: Universal screening using the International Association of Diabetes and Pregnancy Study Groups (IADPSG) criteria has identified a prevalence of gestational diabetes mellitus (GDM) of 12.4% in women living in Ireland. Women with prior GDM are at increased risk of developing type 2 diabetes later in life. A number of risk factors linked to the development of type 2 diabetes are potentially modifiable through lifestyle and behaviour changes, and medical management. No previous Irish studies have adequately investigated the efficacy of lifestyle intervention programmes in reducing these risk factors in women with prior GDM. Through a two-group, parallel randomised controlled trial (RCT), this study aims to assess the clinical impact, cost-effectiveness and psychological experience of the Croi MyAction intensive lifestyle modification programme for women with prior GDM. Methods/Design: A total of 54 women with a history of GDM and persistent post-partum glucose dysfunction (i...

http://hdl.handle.net/10379/12039

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An investigation of a possible association between the occurrence of bovine tuberculosis and weather variables (2017)

Hahesy, Tom; Kelleher, D. L.; Doherty, J.

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An investigation of comorbid psychological disorders, sleep problems, gastrointestinal symptoms and epilepsy in children and adolescents with autism spectrum disorder: A two year follow-up (2021)

Mannion, Arlene; Leader, Geraldine

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Antithrombotic therapy after acute ischemic stroke in patients with atrial fibrillation (2018)

McGrath, Emer R.; Kapral, Moira K.; Fang, Jiming; Eikelboom, John W.; ó Conghaile, Aeng...

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Apples to apples: can differences in out-of-hospital cardiac arrest incidence and outcomes between sweden and ireland be explained by core utstein variables? (2018)

Masterson, Siobhán; Strömsöe, Anneli; Cullinan, John; Deasy, Conor; Vellinga, Akke

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Arsenic in groundwater in south west Ireland: Occurrence, controls, and hydrochemistry (2020)

McGrory, Ellen; Holian, Emma; Alvarez-Iglesias, Alberto; Bargary, Norma; McGillicuddy, ...

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Association between caesarean section delivery and obesity in childhood: a longitudinal cohort study in Ireland (2019)

Masukume, Gwinyai; McCarthy, Fergus P.; Baker, Philip N.; Kenny, Louise C.; Morton, Sus...

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Bullying and symptoms among school-aged children: international comparative cross sectional study in 28 countries (2018)

Due, P.

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Clinical anxiety, cortisol and interleukin-6: evidence for specificity in emotion–biology relationships (2018)

O’Donovan, Aoife; Hughes, Brian M.; Slavich, George M.; Lynch, Lydia; Cronin, Marie-The...

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Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression (2020)

Whitton, Laura; Cosgrove, Donna; Clarkson, Christopher; Harold, Denise; Kendall, Kimber...

Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression (2020)

Whitton, Laura; Cosgrove, Donna; Clarkson, Christopher; Harold, Denise; Kendall, Kimberley; Richards, Alex; Mantripragada, Kiran; Owen, Michael J.; O'Donovan, Michael C.; Walters, James; Hartmann, Annette; Konte, Betina; Rujescu, Dan; Gill, Michael; Corvin, Aiden; Rea, Stephen; Donohoe, Gary; Morris, Derek W.

Abstract:

Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, and synaptic plasticity. These processes when perturbed are thought to contribute to schizophrenia pathophysiology. A core feature of schizophrenia is cognitive dysfunction. For genetic disorders where cognitive impairment is more severe such as intellectual disability, there are a disproportionally high number of genes involved in the epigenetic regulation of gene transcription. Evidence now supports some shared genetic aetiology between schizophrenia and intellectual disability. GWAS have identified 108 chromosomal regions associated with schizophrenia risk that span 350 genes. This study identified genes mapping to those loci that have epigenetic functions, and tested the risk alleles defining those loci for association with cognitive deficits. We developed a list of 350 genes with epigenetic f...

http://hdl.handle.net/10379/16277