Clinical Medicine (Scholarly Publications): Recent submissions
Now showing items 361-380 of 648
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The multifunctional role of filaggrin in allergic skin disease.
(2013)Filaggrin is a major structural protein in the stratum corneum of the epidermis. Mutations in the filaggrin gene are the most significant known genetic risk factor for the development of atopic dermatitis. Mutations in the ... -
Ichthyosis prematurity syndrome: a case report and review of known mutations.
(2014)Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation ... -
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
(2015)Caspase recruitment family member 14 (CARD14, also known as CARMA2), is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Gain-of-function CARD14 mutations have been documented in familial ... -
Transcriptional regulator PRDM12 is essential for human pain perception.
(2015)Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which ... -
Neonatal adiposity increases the risk of atopic dermatitis during the first year of life.
(2016)BACKGROUND: Early nutrition and adiposity have been linked to atopic dermatitis (AD) development. OBJECTIVE: We sought to describe risk factors for AD in the first year of life in infants participating in the Cork ... -
Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges.
(2009)The ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as ... -
Transcriptome Analysis of CD4+ T Cells in Coeliac Disease Reveals Imprint of BACH2 and IFN? Regulation.
(2015)Genetic studies have to date identified 43 genome wide significant coeliac disease susceptibility (CD) loci comprising over 70 candidate genes. However, how altered regulation of such disease associated genes contributes ... -
The role of chemokines in acute and chronic hepatitis C infection.
(2014)Hepatitis C imposes a significant burden on global healthcare. Chronic infection is associated with progressive inflammation of the liver which typically manifests in cirrhosis, organ failure and cancer. By virtue of ... -
Phosphorylation of Rab5a Protein by Protein Kinase Cϵ Is Crucial for T-cell Migration.
(2014)Rab GTPases control membrane traffic and receptor-mediated endocytosis. Within this context, Rab5a plays an important role in the spatial regulation of intracellular transport and signal transduction processes. Here, we ... -
Ethnic variation in breastfeeding and complimentary feeding in the Republic of Ireland.
(2014)Early nutrition plays a pivotal role in long-term health. The World Health Organization (WHO) recommends exclusive breastfeeding during the first six months of life, with the gradual introduction of solids after this period. ... -
IL-18 Attenuates Experimental Choroidal Neovascularization as a Potential Therapy for Wet Age-Related Macular Degeneration
(2014)Age-related macular degeneration (AMD) is the most common form of central retinal blindness globally. Distinct processes of the innate immune system, specifically activation of the NLRP3 inflammasome, have been shown to ... -
Ebola outbreak response; experience and development of screening tools for viral haemorrhagic fever (VHF) in a HIV center of excellence near to VHF epicentres.
(2014)There have been 3 outbreaks of viral hemorrhagic fever (VHF) in Uganda in the last 2 years. VHF often starts with non-specific symptoms prior to the onset of haemorrhagic signs. HIV clinics in VHF outbreak countries such ... -
Activated Factor X signaling via protease-activated receptor 2 suppresses pro-inflammatory cytokine prodution from LPS-stimulated myeloid cells.
(2014)Vitamin K-dependent proteases generated in response to vascular injury and infection enable fibrin clot formation, but also trigger distinct immuno-regulatory signaling pathways on myeloid cells. Factor Xa, a protease ... -
Farnesoid X receptor agonists attenuate colonic epithelial secretory function and prevent experimental diarrhoea in vivo.
(2014)OBJECTIVE: Bile acids are important regulators of intestinal physiology, and the nuclear bile acid receptor, farnesoid X receptor (FXR), is emerging as a promising therapeutic target for several intestinal disorders. ... -
A mineral extract from red algae ameliorates chronic spontaneous colitis in IL-10 deficient mice in a mouse strain dependent manner.
(2014)Inflammatory bowel disease is an urgent public health problem with a high incidence in developed countries. Alterations of lifestyle or dietary interventions may attenuate the disease progression and increase the efficacy ...
