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Genetic disorders of nuclear receptors.
Following the first isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initially discovered by a candidate gene approach based on their known roles in endocrine pathways and physiologic...
Life-threatening metabolic alkalosis in Pendred syndrome.
INTRODUCTION: Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and...
Immune reconstitution after alemtuzumab therapy for multiple sclerosis triggering Graves' orbitopathy
Jonathan CP Roos, Carla Moran, V Krishna Chatterjee, Joanne Jones, Alasdair Coles, Rachna Murthy
Dec 20, 2018
Alemtuzumab-a monoclonal antibody targeting the CD52 glycoprotein expressed by most mature leucocytes-effectively decreases relapse rate and disability progression in early, relapsing-remitting multiple sclerosis (MS). However...
Adolescent Adult Alemtuzumab Antineoplastic Agents Immunological Autoantibodies Disease Progression Enzyme-Linked Immunosorbent Assay Female Graves Ophthalmopathy Humans Immune Reconstitution Magnetic Resonance Imaging Male Middle Aged Multiple Sclerosis Receptors Thyrotropin Recurrence Retrospective Studies Risk Factors
Building a kinetic Monte Carlo model with a chosen accuracy.
The kinetic Monte Carlo (KMC) method is a popular modeling approach for reaching large materials length and time scales. The KMC dynamics is erroneous when atomic processes that are relevant to the dynamics are missing from the...
Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β.
Karn Wejaphikul, Stefan Groeneweg, Yvonne Hilhorst-Hofstee, V Krishna Chatterjee, Robin P Peeters, Marcel E Meima, W Edward Visser
Apr 05, 2019
CONTEXT: The two major forms of circulating thyroid hormones (THs) are T3 and T4. T3 is regarded as the biologically active hormone because it binds to TH receptors (TRs) with greater affinity than T4. However, it is currently...
Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring
Jan Uter, Marcus Heldmann, Berenike Rogge, Martina Obst, Julia Steinhardt, Georg Brabant, Carla Moran, Krishna Chatterjee, Thomas F Münte
Apr 30, 2020
Resistance to thyroid hormone beta (RTHβ) is a syndrome of reduced responsiveness of peripheral tissue to thyroid hormone, caused by mutations in the thyroid hormone receptor beta (THRB). Its cognitive phenotype has been...
ADHD-like symptoms Action monitoring Event-related potentials Resistance to thyroid hormones TH beta receptor Thyroid hormones (TH) Adolescent Adult Aged Attention Deficit Disorder with Hyperactivity Electroencephalography Evoked Potentials Female Humans Male Middle Aged Mutation Phenotype Thyroid Hormone Receptors beta Thyroid Hormone Resistance Syndrome Young Adult
The Differential Diagnosis of Discrepant Thyroid Function Tests
Irene Campi, Danila Covelli, Carla Moran, Laura Fugazzola, Chiara Cacciatore, Fabio Orlandi, Gabriella Gallone, Krishna Chatterjee, Paolo Beck-Peccoz, Luca Persani
Jul 21, 2020
Background: Discrepant thyroid function tests (TFTs) are typical of inappropriate secretion of TSH (IST), a rare entity encompassing TSH-secreting adenomas (TSHoma) and Resistance to Thyroid Hormone (RTHβ) due to THRB mutations....
hyperthyroidism immuno-assay pituitary adenoma resistance to thyroid hormone thyroid hormone thyrotropin (TSH) Adolescent Adult Aged Case-Control Studies Delayed Diagnosis Diagnosis Differential Female Follow-Up Studies Humans hyperthyroidism Male Middle Aged Mutation Prognosis Retrospective Studies Thyroid Function Tests Thyroid Hormone Receptors beta Thyroid Hormones Thyroid Neoplasms Young Adult
Role of Leucine 341 in Thyroid Hormone Receptor Beta Revealed by a Novel Mutation Causing Thyroid Hormone Resistance.
Karn Wejaphikul, Stefan Groeneweg, Prapai Dejkhamron, Kevalee Unachak, W Edward Visser, V Krishna Chatterjee, Theo J Visser, Marcel E Meima, Robin P Peeters
May 03, 2019
Leucine 341 has been predicted from crystal structure as an important residue for thyroid hormone receptor beta (TRβ) function, but this has never been confirmed in functional studies. Here, a novel p.L341V mutation as a cause...
Accumulation of saturated intramyocellular lipid is associated with insulin resistance.
David B Savage, Laura Watson, Katie Carr, Claire Adams, Soren Brage, Krishna K Chatterjee, Leanne Hodson, Chris Boesch, Graham J Kemp, Alison Sleigh
May 03, 2019
Intramyocellular lipid (IMCL) accumulation has been linked to both insulin-resistant and insulin-sensitive (athletes) states. Biochemical analysis of intramuscular triglyceride composition is confounded by extramyocellular...
Exercise Fatty Acids In vivo lipid composition lipodystrophies Muscle spectroscopy Triglycerides Adult Choline-Phosphate Cytidylyltransferase Exercise Fatty Acids Female Heart Rate Humans Insulin Insulin Resistance Lamin Type A lipodystrophy Magnetic Resonance Spectroscopy Male Muscle Skeletal Triglycerides
Alemtuzumab-Induced Thyroid Dysfunction Exhibits Distinctive Clinical and Immunological Features.
Nadia Pariani, Mark Willis, Ilaria Muller, Sarah Healy, Taha Nasser, Anne McGowan, Greta Lyons, Joanne Jones, Krishna Chatterjee, Colin Dayan, Neil Robertson, Alasdair Coles, Carla Moran
Oct 10, 2018
CONTEXT: Alemtuzumab, a highly effective treatment for multiple sclerosis (MS), predisposes to Graves disease (GD), with a reportedly indolent course. OBJECTIVE: To determine the type, frequency, and course of thyroid...
No metabolic effects of mustard allyl-isothiocyanate compared with placebo in men.
Mirjam Langeveld, Chong Yew Tan, Maarten R Soeters, Samuel Virtue, Laura PE Watson, Peter R Murgatroyd, Graeme K Ambler, Santiago Vidal-Puig, Krishna V Chatterjee, Antonio Vidal-Puig
Apr 11, 2018
Background: Induction of nonshivering thermogenesis can be used to influence energy balance to prevent or even treat obesity. The pungent component of mustard, allyl-isothiocyanate (AITC), activates the extreme cold receptor...
allyl-isothiocyanate energy expenditure mustard Thermogenesis thermogenic food Adolescent Adult Aged Animals Blood Glucose Body Temperature Cross-Over Studies Energy Intake Energy Metabolism Female Humans Hunger Isothiocyanates Male Mice Middle Aged Mustard Plant Norepinephrine Oxygen Consumption Thermogenesis Young Adult
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
Emery Di Cicco, Carla Moran, W Edward Visser, Annarita Nappi, Erik Schoenmakers, Pamela Todd, Greta Lyons, Mehul Dattani, Raffaele Ambrosio, Silvia Parisi, Domenico Salvatore, Krishna Chatterjee, Monica Dentice
Jan 15, 2021
Background: Many physiological effects of thyroid hormone (TH) are mediated by its canonical action via nuclear receptors (TH receptor α and β [TRα and TRβ]) to regulate transcription of target genes. Heterozygous dominant...
Quantifying energy expenditure in childhood
Laura PE Watson, Katherine S Carr, Michelle C Venables, Carlo L Acerini, Greta Lyons, Carla Moran, Peter R Murgatroyd, Krishna Chatterjee
Oct 14, 2019
BACKGROUND: Energy expenditure prediction equations are used to estimate energy intake based on general population measures. However, when using equations to compare with a disease cohort with known metabolic abnormalities, it...
Dual-energy X-ray absorptiometry healthy boys and girls indirect calorimetry resistance to thyroid hormone resting energy expenditure prediction equations Adolescent Basal Metabolism Body composition Child Energy Metabolism Female Humans Male Metabolic Diseases Prediabetic State Thyroid Hormone Resistance Syndrome
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
Sep 29, 2018
BACKGROUND: Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably...
dominant negative resistance to thyroid hormone alpha thyroid hormone action thyroid hormone receptor alpha Adolescent Genetic Predisposition to Disease Genotype Humans Male Mutation Phenotype Symptom Assessment Thyroid Hormone Receptors alpha Thyroid Hormone Resistance Syndrome Thyroxine Treatment Outcome Young Adult
Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.
Carla Moran, Christoph Seger, Kevin Taylor, Susan Oddy, Keith Burling, Odelia Rajanayagam, Louise Fairall, Anne McGowan, Greta Lyons, David Halsall, Mark Gurnell, John Schwabe, Krishna Chatterjee, Christopher Strey
Jun 18, 2020
albumin assay interference discordant thyroid function tests familial dysalbuminemic hyperthyroxinemia hypercortisolemia Albumins Genotype Heterozygote Humans Hydrocortisone Hyperthyroxinemia Hyperthyroxinemia Familial Dysalbuminemic Immunoassay Male Military Personnel Mutation Protein Binding Serum Albumin Serum Albumin Human Steroids Thyronines Thyroxine Young Adult
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