Genomes and Genes
Experts and Doctors on humans in Dublin, Ireland
Locale: Dublin, Ireland
- Donohoe G, Morris D, Corvin A. The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes. Schizophr Bull. 2010;36:904-9 pubmed publisher..We conclude that ZNF804A is robustly, if modestly, associated with schizophrenia risk, with much work still remaining to elucidate its role in schizophrenia biology. ..
- Ni Chuileann S, Quigley J. Assessing recollection and familiarity in low functioning autism. J Autism Dev Disord. 2013;43:1406-22 pubmed publisher..Three critical modifications to the original paradigms were made within the current study. The modifications and implications of the findings for individuals with LFA will be discussed. ..
- Daly N, Farren M, McKeating A, OʼKelly R, Stapleton M, Turner M. A Medically Supervised Pregnancy Exercise Intervention in Obese Women: A Randomized Controlled Trial. Obstet Gynecol. 2017;130:1001-1010 pubmed publisher..To evaluate whether an intensive, medically supervised exercise intervention improved maternal glycemia and gestational weight gain in obese pregnant women when compared with routine prenatal care...
- Solon J, O Neill M, Chang K, Deady S, Cahill R, Moran B, et al. An 18 year population-based study on site of origin and outcome of patients with peritoneal malignancy in Ireland. Eur J Surg Oncol. 2017;43:1924-1931 pubmed publisher..PM is more common than previously reported and survival remains poor. These findings highlight the need for greater clinician awareness and the need to focus on new therapeutic approaches to improve patient outcomes. ..
- Makino T, McLysaght A. Ohnologs in the human genome are dosage balanced and frequently associated with disease. Proc Natl Acad Sci U S A. 2010;107:9270-4 pubmed publisher..These observations clearly show a persistent resistance to dose changes in genes duplicated by WGD. Dosage balance constraints simultaneously explain duplicate gene retention and essentiality after WGD. ..
- Shore A, Coleman D. Staphylococcal cassette chromosome mec: recent advances and new insights. Int J Med Microbiol. 2013;303:350-9 pubmed publisher....
- Gannon A, Kinsella B. The Wilms' tumour suppressor protein WT1 acts as a key transcriptional repressor of the human thromboxane A2 receptor gene in megakaryocytes. J Cell Mol Med. 2009;13:4571-86 pubmed publisher..Collectively, these data establish WT1 as a critical repressor of Prm1, suppressing TPalpha expression in the platelet progenitor megakaryoblastic HEL cells. ..
- Tierney J, Mulcahy G. Comparative development of Eimeria tenella (Apicomplexa) in host cells in vitro. Parasitol Res. 2003;90:301-4 pubmed..All cell lines facilitated parasite invasion and development. The MDBK cell line supported the highest degree of E. tenella development. A time-course study was undertaken to look at this host cell-parasite relationship during infection...
- Cullen I, Manecksha R, McCullagh E, Ahmad S, O Kelly F, Flynn R, et al. The changing pattern of antimicrobial resistance within 42,033 Escherichia coli isolates from nosocomial, community and urology patient-specific urinary tract infections, Dublin, 1999-2009. BJU Int. 2012;109:1198-206 pubmed publisher..The dramatic 11-year rate increase in gentamicin resistance is of paramount concern. ..
- Bennett G, Sadlier D, Doran P, MacMathuna P, Murray D. A functional and transcriptomic analysis of NET1 bioactivity in gastric cancer. BMC Cancer. 2011;11:50 pubmed publisher..NET1 plays an important role in GC cell migration and invasion, key aspects of GC progression. Furthermore, the gene expression profile further elucidates the molecular mechanisms underpinning NET1-mediated aggressive GC cell behaviour. ..
- Rauch J, Kolch W, Mahmoudi M. Cell type-specific activation of AKT and ERK signaling pathways by small negatively-charged magnetic nanoparticles. Sci Rep. 2012;2:868 pubmed publisher..Importantly, snSPIONs stimulated the proliferation of Ras transformed breast epithelial cells as efficiently as EGF suggesting that NPs can mimic physiological growth factors...
- Neff K, Olbers T, le Roux C. Bariatric surgery: the challenges with candidate selection, individualizing treatment and clinical outcomes. BMC Med. 2013;11:8 pubmed publisher..We present current data on post-surgical outcomes and evaluate the psychosocial and economic effects of bariatric surgery. Finally, we evaluate the complication rates and present recommendations for post-operative care. ..
- Widger J, O Toole J, Geoghegan O, O Keefe M, Manning R. Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?. J Inherit Metab Dis. 2010;33:129-32 pubmed publisher....
- O Rourke D, Ryan S, Salomons G, Jakobs C, Monavari A, King M. Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. Dev Med Child Neurol. 2009;51:404-7 pubmed..g. plasma or urine) or by an abnormal creatine peak on magnetic resonance spectroscopy, should be considered in patients of any age with unexplained, apparently static learning disability and epilepsy. ..
- Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan D, et al. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nat Genet. 2015;47:1449-1456 pubmed publisher..Notably, the new loci include candidate genes with roles in the regulation of innate host defenses and T cell function, underscoring the important contribution of (auto)immune mechanisms to atopic dermatitis pathogenesis. ..
- Jefferies C, Doyle S, Brunner C, Dunne A, Brint E, Wietek C, et al. Bruton's tyrosine kinase is a Toll/interleukin-1 receptor domain-binding protein that participates in nuclear factor kappaB activation by Toll-like receptor 4. J Biol Chem. 2003;278:26258-64 pubmed..Our findings implicate Btk as a Toll/interleukin-1 receptor domain-binding protein that is important for NFkappaB activation by TLR4. ..
- McGuinness J, Winter D, O Connell P. Balloon tamponade to control haemorrhage following transanal rectal surgery. Int J Colorectal Dis. 2004;19:395-6 pubmed..Bleeding following transanal rectal surgery can be difficult to manage...
- Kelly B. Dr William Saunders Hallaran and psychiatric practice in nineteenth-century Ireland. Ir J Med Sci. 2008;177:79-84 pubmed..Many aspects of Dr Hallaran's progressive approach to psychiatric care remain relevant today. ..
- Chan V, Das J, Gerstenmaier J, Geoghegan J, Gibney R, Collins C, et al. Diagnostic performance of MDCT, PET/CT and gadoxetic acid (Primovist(®))-enhanced MRI in patients with colorectal liver metastases being considered for hepatic resection: initial experience in a single centre. Ir J Med Sci. 2012;181:499-509 pubmed publisher..To compare the relative diagnostic performance of MDCT, PET/CT and Primovist-enhanced MRI (P-MRI) in the pre-resection work-up of colorectal cancer (CRC) liver metastases...
- McCabe C. Nurse-patient communication: an exploration of patients' experiences. J Clin Nurs. 2004;13:41-9 pubmed..If health care management want to ensure that patients receive quality nursing care, they will need to consider patient-centred communication to be essential to encourage and support nurses to communicate in this manner. ..
- Miggin S, Palsson McDermott E, Dunne A, Jefferies C, Pinteaux E, Banahan K, et al. NF-kappaB activation by the Toll-IL-1 receptor domain protein MyD88 adapter-like is regulated by caspase-1. Proc Natl Acad Sci U S A. 2007;104:3372-7 pubmed..This functional interaction reveals an important aspect of the coordination between TLRs and caspase-1 during the innate response to pathogens. ..
- ..Rather than being polygenic, complex disorders probably represent umbrella terms for collections of conditions caused by rare, recent mutations in any of a large number of different genes. ..
- McClean S, Callaghan M. Burkholderia cepacia complex: epithelial cell-pathogen confrontations and potential for therapeutic intervention. J Med Microbiol. 2009;58:1-12 pubmed publisher..This review outlines these interactions and examines the therapeutic implications of understanding the mechanisms of pathogenesis of this difficult, antibiotic-resistant, opportunistic pathogen...
- Tivnan A, Orr W, Gubala V, Nooney R, Williams D, McDonagh C, et al. Inhibition of neuroblastoma tumor growth by targeted delivery of microRNA-34a using anti-disialoganglioside GD2 coated nanoparticles. PLoS ONE. 2012;7:e38129 pubmed publisher....
- Greene C, McElvaney N. Proteases and antiproteases in chronic neutrophilic lung disease - relevance to drug discovery. Br J Pharmacol. 2009;158:1048-58 pubmed publisher..These proteases, antiproteases and their modifiers represent interesting targets for therapeutic intervention. ..
- Haedicke J, De los Santos K, Goff S, Naghavi M. The Ezrin-radixin-moesin family member ezrin regulates stable microtubule formation and retroviral infection. J Virol. 2008;82:4665-70 pubmed publisher..Together, these results suggest that ERM proteins may be important determinants of retrovirus susceptibility through negative regulation of stable microtubule networks. ..
- Bolger J, Young L. ADAM22 as a prognostic and therapeutic drug target in the treatment of endocrine-resistant breast cancer. Vitam Horm. 2013;93:307-21 pubmed publisher..Furthermore, LGI1 may act to reduce cell migration and may impair proliferation. Therapies based on LGI1 may provide a building block for future therapies in ADAM22-positive breast cancer. ..
- Doherty G, Byrne S, Austin S, Scully G, Sadlier D, Neilan T, et al. Regulation of the apoptosis-inducing kinase DRAK2 by cyclooxygenase-2 in colorectal cancer. Br J Cancer. 2009;101:483-91 pubmed publisher..DRAK2 is a serine-threonine kinase implicated in the regulation of apoptosis and is negatively regulated by COX-2 in vitro and in vivo, suggesting a novel mechanism for the effect of COX-2 on cancer cell survival. ..
- Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, et al. Outcomes of siblings with classical galactosemia. J Pediatr. 2009;154:721-6 pubmed publisher....
- Hamilton C, D Arcy S, Pearlmutter B, Crispino G, Lalor E, Conlon B. An Investigation of Feasibility and Safety of Bi-Modal Stimulation for the Treatment of Tinnitus: An Open-Label Pilot Study. Neuromodulation. 2016;19:832-837 pubmed publisher..This study demonstrates the feasibility and safety of a new bi-modal stimulation device and supports the potential efficacy of this new treatment for tinnitus. ..
- Stordal B, Timms K, Farrelly A, Gallagher D, Busschots S, Renaud M, et al. BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation. Mol Oncol. 2013;7:567-79 pubmed publisher..PARP inhibitors may be useful in patients with BRCA1 deleterious mutations or gene methylation. ..
- Thompson J, Tanabe K, Moon R, Mitchell E, McGarvey C, Tappin D, et al. Duration of Breastfeeding and Risk of SIDS: An Individual Participant Data Meta-analysis. Pediatrics. 2017;140: pubmed publisher..Our previous meta-analyses showed that any breastfeeding is protective against SIDS with exclusive breastfeeding conferring a stronger effect.The duration of breastfeeding required to confer a protective effect is unknown...
- Gallagher D, Vijai J, Hamilton R, Ostrovnaya I, Iyer G, Garcia Grossman I, et al. Germline single nucleotide polymorphisms associated with response of urothelial carcinoma to platinum-based therapy: the role of the host. Ann Oncol. 2013;24:2414-21 pubmed publisher..We hypothesized that variations in germline DNA may contribute to UC chemosensitivity...
- Egan K, Crowley D, Smyth P, O Toole S, Spillane C, Martin C, et al. Platelet adhesion and degranulation induce pro-survival and pro-angiogenic signalling in ovarian cancer cells. PLoS ONE. 2011;6:e26125 pubmed publisher..Thus, ovarian cancer cells with different metastatic potential adhere and activate platelets differentially while both platelets and platelet releasate mediate pro-survival and pro-angiogenic signals in ovarian cancer cells. ..
- Weldon S, McGarry N, Taggart C, McElvaney N. The role of secretory leucoprotease inhibitor in the resolution of inflammatory responses. Biochem Soc Trans. 2007;35:273-6 pubmed..In the course of this review, we will highlight the findings from a range of studies that illustrate the multiple functions of SLPI and its role in the resolution of the immune response. ..
- Dussmann H, Rehm M, Concannon C, Anguissola S, Würstle M, Kacmar S, et al. Single-cell quantification of Bax activation and mathematical modelling suggest pore formation on minimal mitochondrial Bax accumulation. Cell Death Differ. 2010;17:278-90 pubmed publisher....
- Ryan D, Nick S, Colette S, Roseanne K. Carotid sinus syndrome, should we pace? A multicentre, randomised control trial (Safepace 2). Heart. 2010;96:347-51 pubmed publisher..Cardioinhibitory carotid sinus hypersensitivity (CICSH) is highly prevalent among older people with falls...
- Hennessy E, Parker A, O Neill L. Targeting Toll-like receptors: emerging therapeutics?. Nat Rev Drug Discov. 2010;9:293-307 pubmed publisher....
- Creamer E, Cunney R, Humphreys H, Smyth E. Sixteen years' surveillance of surgical sites in an Irish acute-care hospital. Infect Control Hosp Epidemiol. 2002;23:36-40 pubmed..Despite limitations in case-finding, risk stratification, feedback, and surveillance methods, the overall SSI rates were comparable with other published data. ..
- Kapur U, Hobbs C, McDermott E, Mooney E. Gastric glomus tumor. Ann Diagn Pathol. 2004;8:32-5 pubmed..We describe a 3.8 cm gastric glomus tumor in a patient who also had adenocarcinoma arising in an adenoma of the rectum, and discuss the differential diagnosis and prognosis...
- Stinnesbeck W, Becker J, Hering F, Frey E, González A, Fohlmeister J, et al. The earliest settlers of Mesoamerica date back to the late Pleistocene. PLoS ONE. 2017;12:e0183345 pubmed publisher..The Chan Hol individual confirms a late Pleistocene settling of Mesoamerica and represents one of the oldest human osteological remains in America. ..
- Cahill S, Smyth P, Denning K, Flavin R, Li J, Potratz A, et al. Effect of BRAFV600E mutation on transcription and post-transcriptional regulation in a papillary thyroid carcinoma model. Mol Cancer. 2007;6:21 pubmed..Several of these up/down regulated miRNAs may be involved in PTC pathogenesis. miRNA profiling will assist in the elucidation of disease pathogenesis and identification biomarkers and targets. ..
- Raftery N, Stevenson N. Advances in anti-viral immune defence: revealing the importance of the IFN JAK/STAT pathway. Cell Mol Life Sci. 2017;74:2525-2535 pubmed publisher....
- Hennessy K, Quinn K, Murphy J. Producer or purchaser: different expectations may lead to equine wastage and welfare concerns. J Appl Anim Welf Sci. 2008;11:232-5 pubmed publisher..Producers need to understand consumer expectations/demands to maximize profitability and to avoid wastage and the production of unsuitable horses. ..
- Walsh S, Gill C, O Neill A, Fitzpatrick J, Watson R. Hypoxia increases normal prostate epithelial cell resistance to receptor-mediated apoptosis via AKT activation. Int J Cancer. 2009;124:1871-8 pubmed publisher....
- Tannahill G, Curtis A, Adamik J, Palsson McDermott E, McGettrick A, Goel G, et al. Succinate is an inflammatory signal that induces IL-1β through HIF-1α. Nature. 2013;496:238-42 pubmed publisher..Lipopolysaccharide also increases succinylation of several proteins. We therefore identify succinate as a metabolite in innate immune signalling, which enhances interleukin-1β production during inflammation. ..
- Tobin A, Veale D, Fitzgerald O, Rogers S, Collins P, O Shea D, et al. Cardiovascular disease and risk factors in patients with psoriasis and psoriatic arthritis. J Rheumatol. 2010;37:1386-94 pubmed publisher..We conducted a comprehensive review of the literature on CVD and all cardiovascular risk factors in patients with psoriasis and PsA...
- Ti J, Al Aradi A, Conlon P, Lee M, Morrin M. Imaging features of encapsulating peritoneal sclerosis in continuous ambulatory peritoneal dialysis patients. AJR Am J Roentgenol. 2010;195:W50-4 pubmed publisher..Radiologic imaging may be helpful in the early diagnosis of encapsulating peritoneal sclerosis and in facilitating timely intervention for CAPD patients with encapsulating peritoneal sclerosis. ..
- Puri P, Gosemann J. Variants of Hirschsprung disease. Semin Pediatr Surg. 2012;21:310-8 pubmed publisher..This review article summarizes the current knowledge of the aforementioned entities of variant HD...
- Kelleher I, Keeley H, Corcoran P, Lynch F, Fitzpatrick C, Devlin N, et al. Clinicopathological significance of psychotic experiences in non-psychotic young people: evidence from four population-based studies. Br J Psychiatry. 2012;201:26-32 pubmed publisher..These symptoms should be carefully assessed in all patients. ..
- Laussmann M, Passante E, Dussmann H, Rauen J, Würstle M, Delgado M, et al. Proteasome inhibition can induce an autophagy-dependent apical activation of caspase-8. Cell Death Differ. 2011;18:1584-97 pubmed publisher..Combination treatments of proteasome inhibitors and XIAP antagonists therefore represent a promising strategy to eliminate highly resistant cancer cells, which overexpress antiapoptotic Bcl-2 family members. ..
- Lynch J, Fay J, Meehan M, Bryan K, Watters K, Murphy D, et al. MiRNA-335 suppresses neuroblastoma cell invasiveness by direct targeting of multiple genes from the non-canonical TGF-β signalling pathway. Carcinogenesis. 2012;33:976-85 pubmed publisher..Our results provide novel insight into the direct regulation of TGF-β non-canonical signaling by miR-335, which in turn is downregulated by MYCN. ..
- Langabeer S, O BRIEN D, Liptrot S, Flynn C, Hayden P, Conneally E, et al. Correlation of the BRAF V600E mutation in hairy cell leukaemia with morphology, cytochemistry and immunophenotype. Int J Lab Hematol. 2012;34:417-21 pubmed publisher..Detection of the BRAF V600E mutation is therefore a useful adjunct in the differential diagnosis of HCL and HCL variant and highlights the value of a multifaceted approach to the diagnosis of this malignancy. ..
- Mac Fhearraigh S, Mc Gee M. Cyclin B1 interacts with the BH3-only protein Bim and mediates its phosphorylation by Cdk1 during mitosis. Cell Cycle. 2011;10:3886-96 pubmed publisher..Collectively, these results suggest that Cdk1/cyclin B1-dependent hyper-phosphorylation of Bim during prolonged mitotic arrest is an important cell death signal. ..
- Higgs R, Lazzari E, Wynne C, Ní Gabhann J, Espinosa A, Wahren Herlenius M, et al. Self protection from anti-viral responses--Ro52 promotes degradation of the transcription factor IRF7 downstream of the viral Toll-Like receptors. PLoS ONE. 2010;5:e11776 pubmed publisher..As Ro52 is known to be IFN-inducible, this system constitutes a negative-feedback loop that acts to protect the host from the prolonged activation of the immune response. ..
- Brady A, Malone A, Fleming S. A literature review of the individual and systems factors that contribute to medication errors in nursing practice. J Nurs Manag. 2009;17:679-97 pubmed publisher..The health care industry can benefit from learning from other high-risk industries such as aviation in the prevention and management of systems errors. ..
- Casey J, Nobbs M, McGettigan P, Lynch S, Ennis S. Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. J Med Genet. 2012;49:242-5 pubmed publisher..These findings suggest that clinicians should consider this disorder in patients with failure to thrive who develop pigmentation or who have recurrent infections. ..
- McGowan P, McKiernan E, Bolster F, Ryan B, Hill A, McDermott E, et al. ADAM-17 predicts adverse outcome in patients with breast cancer. Ann Oncol. 2008;19:1075-81 pubmed publisher..Our results are further evidence that ADAM-17 is involved in breast cancer progression and thus provides further impetus for exploiting ADAM-17 as new target for cancer treatment. ..
- Berge E, Al Shahi Salman R, van der Worp H, Stapf C, Sandercock P, Sprigg N, et al. Increasing value and reducing waste in stroke research. Lancet Neurol. 2017;16:399-408 pubmed publisher..Evidence suggests that progress has been made, but there is room for much improvement; researchers, funders, regulators, and other stakeholders in stroke research might consider these recommendations when planning new research. ..
- Shi W, Carr M, Dunford L, Zhu C, Hall W, Higgins D. Identification of novel inter-genotypic recombinants of human hepatitis B viruses by large-scale phylogenetic analysis. Virology. 2012;427:51-9 pubmed publisher..1047 out of 3403 sequences were identified to be putative recombinants, of which 72 were identified to be novel recombinants. Notably, all viruses of the herein described genotype "BC" were identified to be B/C recombinants. ..
- McKiernan P, McElvaney N, Greene C. SLPI and inflammatory lung disease in females. Biochem Soc Trans. 2011;39:1421-6 pubmed publisher....