rian.ie - Browse

A A A

Limited By:	Subject = association;

Displaying Results 1 - 25 of 73 on page 1 of 3

Mark

&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

Mark

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...

Mark

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

Xiao, Mimi; O’Neill, Ciaran

Mark

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

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

Mark

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

McSharry, Jennifer

Mark

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

Mark

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

Mark

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

Mark

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

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

Mark

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...

Mark

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

Mark

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

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

Mark

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...

Mark

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

Due, P.

Mark

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...

Mark

Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression (2018)

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

Mark

Cross-national time trends in bullying victimization in 33 countries among children aged 11, 13 and 15 from 2002 to 2010 (2018)

Chester, K. L.; Callaghan, M.; Cosma, A.; Donnelly, P.; Craig, W.; Walsh, S.; Molcho, M.

Mark

Delay in seeking medical help following transient ischemic attack (TIA) or "Mini-Stroke": a qualitative study (2016)

Mc Sharry, Jennifer; Baxter, Alison; Wallace, Louise M.; Kenton, Anthony; Turner, Andre...

Mark

Demography and biochemistry of 2800 patients from a renal stones clinic (2018)

Walker, V.; Stansbridge, E. M.; Griffin, D. G.

Mark

Depressive realism and the effect of intertrial interval on judgements of zero, positive, and negative contingencies (2007)

Msetfi, Rachel M.; Murphy, Robin A.; Simpson, Jane

Mark

Differential characterization of emerging skin diseases of rainbow trout - a standardized approach to capturing disease characteristics and development of case definitions (2018)

Oidtmann, B; LaPatra, S E; Verner-Jeffreys, D; Pond, M; Peeler, E J; Noguera, P A; Brun...

Mark

Distribution of symptom dimensions across kraepelinian divisions (2018)

DIKEOS, D. G.; WICKHAM, H.; McDONALD, C.; WALSHE, M.; SIGMUNDSSON, T.; BRAMON, E.; GREC...

Mark

Do mothers accurately identify their child’s overweight/obesity status during early childhood? evidence from a nationally representative cohort study (2018)

Queally, Michelle; ,; Doherty, Edel; Matvienko-Sikar, Karen; Toomey, Elaine; Cullinan, ...

Mark

Dopa decarboxylase gene polymorphisms and attention deficit hyperactivity disorder (ADHD): no evidence for association in the Irish population (2001)

GILL, MICHAEL; MCCARRON, MARY; HAWI, ZIARIH; FITZGERALD, MICHAEL

Mark

Effects of levothyroxine therapy on pregnancy outcomes in women with subclinical hypothyroidism (2018)

Maraka, Spyridoula; Singh Ospina, Naykky M.; O'Keeffe, Derek T.; Rodriguez-Gutierr...

Displaying Results 1 - 25 of 73 on page 1 of 3

Legal Information | Copyright Information

built by Enovation Solutions