Search Results - "Moran, Ellen"
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Abacavir-reactive memory T cells are present in drug naïve individuals
Published in PloS one (12-02-2015)“…Fifty-five percent of individuals with HLA-B*57:01 exposed to the antiretroviral drug abacavir develop a hypersensitivity reaction (HSR) that has been…”
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Demodex and Rosacea Revisited
Published in Clinics in dermatology (01-03-2017)“…Abstract Demodex mites are part of the vast microbiome living on and within human skin. The interaction of the various microorganisms with the skin plays a key…”
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Airborne Particulate Concentrations During and After Pulmonary Function Testing
Published in Chest (01-04-2021)Get full text
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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome
Published in Human molecular genetics (20-04-2023)“…Abstract Congenital myasthenic syndrome (CMS) is a heterogeneous condition associated with 34 different genes, including SLC5A7, which encodes the…”
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Human rheumatoid arthritis tissue production of IL-17A drives matrix and cartilage degradation: synergy with tumour necrosis factor-alpha, Oncostatin M and response to biologic therapies
Published in Arthritis research & therapy (01-01-2009)“…The aim of this study was to examine IL-17A in patients, following anti-TNF-alpha therapy and the effect of IL-17A on matrix turnover and cartilage…”
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DLCO Biologic Quality-Control Findings From a Multi-Center Global Study
Published in Respiratory care (01-09-2023)“…The 2017 American Thoracic Society/European Respiratory Society (ATS/ERS) diffusing capacity of the lung for carbon monoxide (DLCO) standards specify a control…”
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Published in American journal of human genetics (06-08-2020)“…MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been…”
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IRAK-2 Participates in Multiple Toll-like Receptor Signaling Pathways to NFκB via Activation of TRAF6 Ubiquitination
Published in The Journal of biological chemistry (16-11-2007)“…Toll-like receptor (TLR) signaling is known to involve interleukin-1 receptor-associated kinases (IRAKs), however the particular role of IRAK-2 has remained…”
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IL-17A expression is localised to both mononuclear and polymorphonuclear synovial cell infiltrates
Published in PloS one (24-08-2011)“…This study examines the expression of IL-17A-secreting cells within the inflamed synovium and the relationship to in vivo joint hypoxia measurements. IL-17A…”
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Variations in FVC and FEV1 Biologic Quality Control Measures in a Global Multi-Center Clinical Trial
Published in Respiratory care (01-06-2022)“…BACKGROUNDAlthough quality control standards are recommended to ensure accurate test results, the coefficient of variation for the FVC and FEV1 biologic…”
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The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe
Published in Clinical ophthalmology (Auckland, N.Z.) (01-01-2024)“…To map the existing genomic services available for patients with IRDs across Europe. A survey was conducted to 24 ophthalmic and/or genetic specialists across…”
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Interleukin‐17A induction of angiogenesis, cell migration, and cytoskeletal rearrangement
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-11-2011)“…Objective To examine the ability of interleukin‐17A (IL‐17A) to stimulate angiogenesis, cell migration, and cytoskeletal rearrangement. Methods The effect of…”
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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Published in PLoS genetics (27-04-2016)“…Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The…”
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Published in Orphanet journal of rare diseases (18-03-2021)“…An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine…”
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P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
Published in Genetics in Medicine Open (2024)Get full text
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16
Antiviral Drug Allergy
Published in Immunology and allergy clinics of North America (01-08-2014)“…Antiviral drugs used to treat HIV and hepatitis C are common causes of delayed drug hypersensitivities for which many of the more severe reactions have been…”
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The role of interleukin-17 in immune-mediated inflammatory myopathies and possible therapeutic implications
Published in Neuromuscular disorders : NMD (01-11-2014)“…Abstract The idiopathic inflammatory myopathies are a heterogeneous group of autoimmune muscle disorders with distinct clinical and pathological features and…”
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Impulse Oscillometry (IOS) Provides Important Additional Information During Methacholine Challeng
Published in Chest (23-10-2011)Get full text
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19
Effect of Growth Hormone Therapy on Severe Short Stature and Skeletal Deformities in a Patient with Combined Turner Syndrome and Langer Mesomelic Dysplasia
Published in The journal of clinical endocrinology and metabolism (01-12-2009)“…Background: Homozygous mutation of the short stature homeobox-containing gene, SHOX, results in Langer mesomelic dysplasia (LMD). Our case presented with…”
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The Limb–Girdle Muscular Dystrophies: Is Treatment on the Horizon?
Published in Neurotherapeutics (01-10-2018)“…There has been an ever-expanding list of the Limb–Girdle Muscular Dystrophies (LGMD). There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes…”
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