keyword
MENU ▼
Read by QxMD icon Read
search

Refetoff

keyword
https://www.readbyqxmd.com/read/29676214/homozygous-mutation-in-human-serum-albumin-and-its-implication-on-thyroid-tests
#1
Mizuho S Mimoto, Anara Karaca, Neal Scherberg, Alexandra M Dumitrescu, Samuel Refetoff
An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. The patient was identified during evaluation of abnormal thyroid tests in a large family with multiple levels of consanguinity. He showed a greater increase in total T4 relative to that observed in heterozygous family members. The higher affinity of mutant HSA for T4, together with the large molar excess of HSA relative to thyroid hormones in serum, results in preferential association of T4 with the mutant rather than wildtype HSA in heterozygous individuals...
April 20, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29580183/13th-international-workshop-on-resistance-to-thyroid-hormone-and-thyroid-hormone-action
#2
Graham Williams, Anita Boelen, Samuel Refetoff
NA.
March 26, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29229863/noncanonical-thyroid-hormone-signaling-mediates-cardiometabolic-effects-in-vivo
#3
G Sebastian Hönes, Helena Rakov, John Logan, Xiao-Hui Liao, Eugenie Werbenko, Andrea S Pollard, Stine M Præstholm, Majken S Siersbæk, Eddy Rijntjes, Janina Gassen, Sören Latteyer, Kathrin Engels, Karl-Heinz Strucksberg, Petra Kleinbongard, Denise Zwanziger, Jan Rozman, Valerie Gailus-Durner, Helmut Fuchs, Martin Hrabe de Angelis, Ludger Klein-Hitpass, Josef Köhrle, David L Armstrong, Lars Grøntved, J H Duncan Bassett, Graham R Williams, Samuel Refetoff, Dagmar Führer, Lars C Moeller
Thyroid hormone (TH) and TH receptors (TRs) α and β act by binding to TH response elements (TREs) in regulatory regions of target genes. This nuclear signaling is established as the canonical or type 1 pathway for TH action. Nevertheless, TRs also rapidly activate intracellular second-messenger signaling pathways independently of gene expression (noncanonical or type 3 TR signaling). To test the physiological relevance of noncanonical TR signaling, we generated knockin mice with a mutation in the TR DNA-binding domain that abrogates binding to DNA and leads to complete loss of canonical TH action...
December 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29083325/glis3-is-indispensable-for-tsh-tshr-dependent-thyroid-hormone-biosynthesis-and-follicular-cell-proliferation
#4
Hong Soon Kang, Dhirendra Kumar, Grace Liao, Kristin Lichti-Kaiser, Kevin Gerrish, Xiao-Hui Liao, Samuel Refetoff, Raja Jothi, Anton M Jetten
Deficiency in Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) in humans is associated with the development of congenital hypothyroidism. However, the functions of GLIS3 in the thyroid gland and the mechanism by which GLIS3 dysfunction causes hypothyroidism are unknown. In the current study, we demonstrate that GLIS3 acts downstream of thyroid-stimulating hormone (TSH) and TSH receptor (TSHR) and is indispensable for TSH/TSHR-mediated proliferation of thyroid follicular cells and biosynthesis of thyroid hormone...
October 30, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28954305/novel-mutations-in-the-nkx2-1-gene-and-the-pax8-gene-in-a-boy-with-brain-lung-thyroid-syndrome
#5
Pia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Joachim Pohlenz
OBJECTIVE: To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. DESIGN, PATIENTS, MEASUREMENTS: We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland...
February 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28938413/prenatal-diagnosis-of-resistance-to-thyroid-hormone-and-its-clinical-implications
#6
Theodora Pappa, João Anselmo, Sunnee Mamanasiri, Alexandra M Dumitrescu, Roy E Weiss, Samuel Refetoff
Context: Resistance to thyroid hormone-β (RTH-β) is an autosomal dominant disorder characterized by reduced sensitivity of target tissues to thyroid hormones (THs). Individuals with RTH-β have high TH levels usually due to mutations in the TH receptor-β (THRB) gene. The management of RTH-β during pregnancy is challenging, as wild-type (WT) fetuses born to RTH-β mothers have low birth weight and suppressed postnatal thyroid-stimulating hormone (TSH), due to intrauterine exposure to excess TH...
October 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28652169/oncogene-induced-senescence-and-its-evasion-in-a-mouse-model-of-thyroid-neoplasia
#7
Roberto Bellelli, Donata Vitagliano, Giorgia Federico, Pina Marotta, Anna Tamburrino, Paolo Salerno, Orlando Paciello, Serenella Papparella, Jeffrey A Knauf, James A Fagin, Samuel Refetoff, Giancarlo Troncone, Massimo Santoro
Here we describe a conditional doxycycline-dependent mouse model of RET/PTC3 (NCOA4-RET) oncogene-induced thyroid tumorigenesis. In these mice, after 10 days of doxycycline (dox) administration, RET/PTC3 expression induced mitogen activated protein kinase (MAPK) stimulation and a proliferative response which resulted in the formation of hyperplastic thyroid lesions. This was followed, after 2 months, by growth arrest accompanied by typical features of oncogene-induced senescence (OIS), including upregulation of p16INK4A and p21CIP, positivity at the Sudan black B, activation of the DNA damage response (DDR) markers γH2AX and pChk2 T68, and induction of p53 and p19ARF...
January 15, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28648507/resistance-to-thyrotropin
#8
REVIEW
Helmut Grasberger, Samuel Refetoff
Resistance to thyrotropin (RTSH) is broadly defined as reduced sensitivity of thyroid follicle cells to stimulation by biologically active TSH due to genetic defects. Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-mediated action, namely thyroid hormone synthesis and gland growth. These include inactivating mutations in the genes encoding the TSH receptor and the PAX8 transcription factor...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28637283/an-essential-physiological-role-for-mct8-in-bone-in-male-mice
#9
Victoria D Leitch, Caterina Di Cosmo, Xiao-Hui Liao, Sam O'Boy, Thomas M Galliford, Holly Evans, Peter I Croucher, Alan Boyde, Alexandra Dumitrescu, Roy E Weiss, Samuel Refetoff, Graham R Williams, J H Duncan Bassett
T3 is an important regulator of skeletal development and adult bone maintenance. Thyroid hormone action requires efficient transport of T4 and T3 into target cells. We hypothesized that monocarboxylate transporter (MCT) 8, encoded by Mct8 on the X-chromosome, is an essential thyroid hormone transporter in bone. To test this hypothesis, we determined the juvenile and adult skeletal phenotypes of male Mct8 knockout mice (Mct8KO) and Mct8D1D2KO compound mutants, which additionally lack the ability to convert the prohormone T4 to the active hormone T3...
September 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28586435/fetal-exposure-to-high-maternal-thyroid-hormone-levels-causes-central-resistance-to-thyroid-hormone-in-adult-humans-and-mice
#10
COMPARATIVE STUDY
Panudda Srichomkwun, João Anselmo, Xiao-Hui Liao, G Sebastian Hönes, Lars C Moeller, Manuela Alonso-Sampedro, Roy E Weiss, Alexandra M Dumitrescu, Samuel Refetoff
Context: Fetuses exposed to the high thyroid hormone (TH) levels of mothers with resistance to thyroid hormone beta (RTH-β), due to mutations in the THRB gene, have low birth weight and suppressed TSH. Objective: Determine if such exposure to high TH levels in embryonic life has a long-term effect into adulthood. Design: Observations in humans with a parallel design on animals to obtain a preliminary information regarding mechanism. Setting: University research centers...
September 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28526555/modeling-psychomotor-retardation-using-ipscs-from-mct8-deficient-patients-indicates-a-prominent-role-for-the-blood-brain-barrier
#11
Gad D Vatine, Abraham Al-Ahmad, Bianca K Barriga, Soshana Svendsen, Ariel Salim, Leslie Garcia, Veronica J Garcia, Ritchie Ho, Nur Yucer, Tongcheng Qian, Ryan G Lim, Jie Wu, Leslie M Thompson, Weston R Spivia, Zhaohui Chen, Jennifer Van Eyk, Sean P Palecek, Samuel Refetoff, Eric V Shusta, Clive N Svendsen
Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. Animal models do not reflect the biology of the human disease. Using patient-specific induced pluripotent stem cells (iPSCs), we generated MCT8-deficient neural cells that showed normal TH-dependent neuronal properties and maturation. However, the blood-brain barrier (BBB) controls TH entry into the brain, and reduced TH availability to neural cells could instead underlie the diseased phenotype...
June 1, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28472304/thyroid-hormone-signaling-pathways-time-for-a-more-precise-nomenclature
#12
Frédéric Flamant, Sheue-Yann Cheng, Anthony N Hollenberg, Lars C Moeller, Jacques Samarut, Fredric E Wondisford, Paul M Yen, Samuel Refetoff
Current literature makes a distinction between two pathways for thyroid hormone signaling: genomic and nongenomic. However, this classification is a source of confusion. We propose a clarification in the nomenclature that may help to avoid unproductive controversies and favor progress in this field of research. Four types of thyroid hormone signaling are defined, and the experimental criteria for classification are discussed.
July 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28457184/changes-in-hepatic-tr%C3%AE-protein-expression-lipogenic-gene-expression-and-long-chain-acylcarnitine-levels-during-chronic-hyperthyroidism-and-triiodothyronine-withdrawal-in-a-mouse-model
#13
Kenji Ohba, Rohit Anthony Sinha, Brijesh Kumar Singh, Liliana Felicia Iannucci, Jin Zhou, Jean-Paul Kovalik, Xiao-Hui Liao, Samuel Refetoff, Judy Chia Ghee Sng, Melvin Khee-Shing Leow, Paul Michael Yen
BACKGROUND: Thyroid hormone (TH) has important roles in regulating hepatic metabolism. It was previously reported that most hepatic genes activated by a single triiodothyronine (T3) injection became desensitized after multiple injections, and that approximately 10% of target genes did not return to basal expression levels after T3 withdrawal, despite normalization of serum TH and thyrotropin (TSH) levels. To determine the possible mechanism(s) for desensitization and incomplete recovery of hepatic target gene transcription and their effects on metabolism, mRNA and/or protein expression levels of key regulators of TH action were measured, as well as metabolomic changes after chronic T3 treatment and withdrawal...
June 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28324000/trh-action-is-impaired-in-pituitaries-of-male-igsf1-deficient-mice
#14
Marc-Olivier Turgeon, Tanya L Silander, Denica Doycheva, Xiao-Hui Liao, Marc Rigden, Luisina Ongaro, Xiang Zhou, Sjoerd D Joustra, Jan M Wit, Mike G Wade, Heike Heuer, Samuel Refetoff, Daniel J Bernard
Loss-of-function mutations in the X-linked immunoglobulin superfamily, member 1 (IGSF1) gene cause central hypothyroidism. IGSF1 is a transmembrane glycoprotein of unknown function expressed in thyrotropin (TSH)-producing thyrotrope cells of the anterior pituitary gland. The protein is cotranslationally cleaved, with only its C-terminal domain (CTD) being trafficked to the plasma membrane. Most intragenic IGSF1 mutations in humans map to the CTD. In this study, we used CRISPR-Cas9 to introduce a loss-of-function mutation into the IGSF1-CTD in mice...
April 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28222413/a-new-tr%C3%AE-mutation-in-resistance-to-thyroid-hormone-syndrome
#15
Corina Neamţu, Claudiu Ţupea, Diana Păun, Anca Hoisescu, Adina Ghemigian, Samuel Refetoff, Chutintorn Sriphrapradang
Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRß1 and TRß2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity to the action of thyroid hormones. We report the case of a family harbouring a novel TRß mutation. Sequencing of the TRβ gene revealed a single nucleotide substitution-C to G in codon 340: glutamine was replaced by glutamic acid. The clinical picture and biochemical and hormonal panel showed significant differences within the family, despite their sharing the same mutation...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28078322/diagnostic-dilemma-in-discordant-thyroid-function-tests-due-to-thyroid-hormone-autoantibodies
#16
Panudda Srichomkwun, Neal H Scherberg, Jasminka Jakšić, Samuel Refetoff
OBJECTIVE: Assay interference could be the cause of abnormal thyroid function tests. Early recognition prevents inappropriate patient management. The objective of this report is to present a case with discordant thyroid function tests in different thyroid assay platforms due to thyroid autoantibodies. METHODS: We present a case her family, laboratory data and methods that investigate immunoassay interference. RESULTS: A 21-year-old woman with autoimmune thyroid disease was treated for hypothyroidism with levothyroxine and noted to have elevated total and free thyroxine, free triiodothyronine but normal thyroid-stimulating hormone...
2017: AACE Clinical Case Reports
https://www.readbyqxmd.com/read/27821020/duox2-gene-mutation-manifesting-as-resistance-to-thyrotropin-phenotype
#17
Panudda Srichomkwun, Junta Takamatsu, Deborah A Nickerson, Michael J Bamshad, Jessica X Chong, Samuel Refetoff
Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare DUOX2 gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic. This form of nongoitrous dyshormonogenesis masquerades both clinically and biochemically as RTSH...
January 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27758132/a-novel-thyroid-hormone-receptor-beta-gene-mutation-g251v-in-a-thai-patient-with-resistance-to-thyroid-hormone-coexisting-with-pituitary-incidentaloma
#18
Chutintorn Sriphrapradang, Panudda Srichomkwun, Samuel Refetoff, Sunee Mamanasiri
A patient is reported with resistance to thyroid hormone beta caused by a novel THRB gene mutation and coexisting pituitary microadenoma. A 41-year-old Thai woman presented with elevated serum thyroid hormone levels and non-suppressed thyrotropin (TSH). Magnetic resonance imaging showed a 4 mm × 2 mm pituitary adenoma. Five of her relatives had similar thyroid tests abnormalities, but a sister had Graves' disease. Thyroperoxidase and thyroglobulin antibodies were positive in all affected family members, except for the proband's 4...
December 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27599561/overexpression-of-interleukin-4-in-the-thyroid-of-transgenic-mice-upregulates-the-expression-of-duox1-and-the-anion-transporter-pendrin
#19
Zineb Eskalli, Younes Achouri, Stephan Hahn, Marie-Christine Many, Julie Craps, Samuel Refetoff, Xiao-Hui Liao, Jacques E Dumont, Jacqueline Van Sande, Bernard Corvilain, Françoise Miot, Xavier De Deken
BACKGROUND: The dual oxidases (Duox) are involved in hydrogen peroxide generation, which is essential for thyroid hormone synthesis, and therefore they are markers of thyroid function. During inflammation, cytokines upregulate DUOX gene expression in the airway and the intestine, suggesting a role for these proteins in innate immunity. It was previously demonstrated that interleukin-4 (IL-4) upregulates DUOX gene expression in thyrocytes. Although the role of IL-4 in autoimmune thyroid diseases has been studied extensively, the effects of IL-4 on thyroid physiology remain largely unknown...
October 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27432638/adeno-associated-virus-9-based-gene-therapy-delivers-a-functional-monocarboxylate-transporter-8-improving-thyroid-hormone-availability-to-the-brain-of-mct8-deficient-mice
#20
Hideyuki Iwayama, Xiao-Hui Liao, Lyndsey Braun, Soledad Bárez-López, Brian Kaspar, Roy E Weiss, Alexandra M Dumitrescu, Ana Guadaño-Ferraz, Samuel Refetoff
BACKGROUND: MCT8 gene mutations produce thyroid hormone (TH) deficiency in the brain, causing severe neuropsychomotor abnormalities not correctable by treatment with TH. This proof-of-concept study examined whether transfer of human MCT8 (hMCT8) cDNA using adeno-associated virus 9 (AAV9) could correct the brain defects of Mct8 knockout mice (Mct8KO). METHODS: AAV9 vectors delivering long and/or short hMCT8 protein isoforms or an empty vector were injected intravenously (IV) and/or intracerebroventricularly (ICV) into postnatal day 1 Mct8KO and wild type (Wt) mice...
September 2016: Thyroid: Official Journal of the American Thyroid Association
keyword
keyword
26997
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"