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[PMID]:28586435
[Au] Autor:Srichomkwun P; Anselmo J; Liao XH; Hönes GS; Moeller LC; Alonso-Sampedro M; Weiss RE; Dumitrescu AM; Refetoff S
[Ad] Endereço:Department of Medicine, The University of Chicago, Chicago, Illinois 60637.
[Ti] Título:Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
[So] Source:J Clin Endocrinol Metab;102(9):3234-3240, 2017 Sep 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Fetuses exposed to the high thyroid hormone (TH) levels of mothers with resistance to thyroid hormone beta (RTH-ß), 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. Patients or other participants: Humans and mice with no RTH-ß exposed during intrauterine life to high TH levels from mothers who were euthyroid due to RTH-ß. Controls were humans and mice of the same genotype but born to fathers with RTH-ß and mothers without RTH-ß and thus, with normal serum TH levels. Interventions: TSH responses to stimulation with thyrotropin-releasing hormone (TRH) during adult life in humans and male mice before and after treatment with triiodothyronine (T3). We also measured gene expression in anterior pituitaries, hypothalami, and cerebral cortices of mice. Results: Adult humans and mice without RTH-ß, exposed to high maternal TH in utero, showed persistent central resistance to TH, as evidenced by reduced responses of serum TSH to TRH when treated with T3. In mice, anterior pituitary TSH-ß and deiodinase 3 (D3) mRNAs, but not hypothalamic and cerebral cortex D3, were increased. Conclusions: Adult humans and mice without RTH-ß exposed in utero to high maternal TH levels have persistent central resistance to TH. This is likely mediated by the increased expression of D3 in the anterior pituitary, enhancing local T3 degradation.
[Mh] Termos MeSH primário: Doenças Fetais/sangue
Hipertireoidismo/sangue
Troca Materno-Fetal/fisiologia
Síndrome da Resistência aos Hormônios Tireóideos/etiologia
Hormônios Tireóideos/sangue
[Mh] Termos MeSH secundário: Adulto
Fatores Etários
Análise de Variância
Animais
Modelos Animais de Doenças
Feminino
Doenças Fetais/etiologia
Seguimentos
Genes erbA
Seres Humanos
Hipertireoidismo/complicações
Recém-Nascido
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Circulação Placentária/fisiologia
Gravidez
Efeitos Tardios da Exposição Pré-Natal
Distribuição Aleatória
Medição de Risco
Amostragem
Síndrome da Resistência aos Hormônios Tireóideos/fisiopatologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Thyroid Hormones)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00019


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[PMID]:26041374
[Au] Autor:Han R; Ye L; Jiang X; Zhou X; Billon C; Guan W; Gauthier K; Fang W; Wang W; Samarut J; Ning G
[Ad] Endereço:Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Department of Endocrine and Metabolic Diseases, Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai, 200025, People's Republic of China.
[Ti] Título:Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.
[So] Source:Endocrine;50(3):689-97, 2015 Dec.
[Is] ISSN:1559-0100
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). However, the most common form of RTH results from minor defects in the ligand-binding domain or hinge domain of the TRß gene, resulting in impaired T3-induced transcriptional activity, often showing mild presentation. Early diagnosis can be challenging. The objective of the current study was to characterize this specific group of RTH patients. This was a retrospective study. Patients diagnosed as RTH with TRß mutations were enrolled in a single institute between 2004 and 2014. A total of 14 patients were diagnosed as RTH with mutation in THß gene. The median age at diagnosis was 22.5 (IQR: 13.25-32.75). Goiter was the most common clinical finding. TSH was significantly elevated after TRH injection (median peak was 21.83 µIU/l, IQR: 13.59-31.48), 9.2-fold compared to the basal level. We found 10 mutations in TRß gene, all located in the last four exons, and including one novel mutation, H271D. In vitro study found that H271D mutation reduced TR affinity to T3. Four patients with intact thyroid were diagnosed after 16 years old, defined as late manifestation. Compared to those diagnosed before 10 years old, patients with late manifestation presented with normal growth and mental development. Interestingly, three of them carried R438H mutation. We identified a novel p.H271D mutation in TRß associated with RTH. Endocrinologists should be alert that RTH is frequently found in euthyroid patients with mild symptoms and often leads to misleading diagnosis as well as inappropriate treatment.
[Mh] Termos MeSH primário: Genes erbA
Síndrome da Resistência aos Hormônios Tireóideos/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Genótipo
Seres Humanos
Masculino
Mutação
Estudos Retrospectivos
Síndrome da Resistência aos Hormônios Tireóideos/diagnóstico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1609
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150605
[St] Status:MEDLINE
[do] DOI:10.1007/s12020-015-0622-x


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[PMID]:26037512
[Au] Autor:Espiard S; Savagner F; Flamant F; Vlaeminck-Guillem V; Guyot R; Munier M; d'Herbomez M; Bourguet W; Pinto G; Rose C; Rodien P; Wémeau JL
[Ad] Endereço:Centre Hospitalier Régional Universitaire de Lille (S.E., J.-L.W.), Hôpital Huriez, Service d'endocrinologie et métabolisme, 59000 Lille, France; Unité Mixte de Recherche (UMR) Institut national de la santé et de la recherche médicale (Inserm) 1048 (F.S.), Institut des Maladies Métaboliques et Cardi
[Ti] Título:A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
[So] Source:J Clin Endocrinol Metab;100(8):2841-8, 2015 Aug.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: RTHα is a recently discovered resistance to thyroid hormone (RTH) due to mutation of THRA, the gene encoding TRα1, the thyroid hormone receptor. It has been described in a few patients with growth retardation, short stature, and a low free T4/free T3 (FT4/FT3) ratio. OBJECTIVE: A 27-year-old patient presenting with dwarfism and a low FT4/FT3 ratio was investigated. DESIGN: Clinical, biochemical, and radiological data were collected. Whole exome sequencing was performed in the patient and her relatives. RESULTS: The patient exhibited congenital macrocytic anemia and severe bone malformation with growth retardation, dwarfism, clavicular agenesis, and abnormalities of the fingers, toes, and elbow joints. In adulthood, she presented with active behavior, chronic motor diarrhea, and hypercalcemia. Treatment with T3 led to heart rate acceleration, worsening of diarrhea, and TSH suppression. Low resting energy expenditure normalized on T3. rT3, SHBG, and IGF-1 remained normal. A de novo monoallelic missense mutation in THRA was discovered, the N359Y amino acid substitution (c.1075A>T), which affected both the TRα1 and the non-receptor isoform TRα2. The mutant TRα1 had a decrease in transcriptional activity related to decreased T3 binding and a dominant-negative effect on the wild-type receptor. CONCLUSIONS: This patient presents a new phenotype including more significant bone abnormalities, lower TSH, and higher FT3 levels, without certainty of all her symptoms with the TRα1(N359Y) mutation. This case suggests that patients with a low FT4/FT3 ratio should be screened for THRA mutations, even if clinical and biological features differ from previous reported cases of RTHα.
[Mh] Termos MeSH primário: Genes erbA
Mutação em Linhagem Germinativa
Síndrome da Resistência aos Hormônios Tireóideos/genética
[Mh] Termos MeSH secundário: Adulto
Substituição de Aminoácidos
Diarreia/complicações
Diarreia/genética
Nanismo/genética
Feminino
Seres Humanos
Hipercalcemia/complicações
Hipercalcemia/genética
Anormalidades Musculoesqueléticas/genética
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1511
[Cu] Atualização por classe:150807
[Lr] Data última revisão:
150807
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150604
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2015-1120


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[PMID]:25662575
[Au] Autor:Cheng SY
[Ad] Endereço:Laboratory of Molecular BiologyCenter for Cancer Research, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Room 5128, Bethesda, Maryland 20892-4264, USA chengs@mail.nih.gov.
[Ti] Título:My journey to unravel complex actions of thyroid hormone: was it fate or destiny?
[So] Source:Endocr Relat Cancer;22(2):P1-P10, 2015 Apr.
[Is] ISSN:1479-6821
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Hormônios Tireóideos
[Mh] Termos MeSH secundário: Animais
Genes erbA
História do Século XX
História do Século XXI
Seres Humanos
Receptores dos Hormônios Tireóideos/genética
Síndrome da Resistência aos Hormônios Tireóideos/genética
[Pt] Tipo de publicação:AUTOBIOGRAPHY; HISTORICAL ARTICLE; JOURNAL ARTICLE
[Ps] Nome de pessoa como assunto:Cheng SY
[Nm] Nome de substância:
0 (Receptors, Thyroid Hormone); 0 (Thyroid Hormones)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:150305
[Lr] Data última revisão:
150305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150210
[St] Status:MEDLINE
[do] DOI:10.1530/ERC-15-0056


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[PMID]:25627054
[Au] Autor:Gonçalves AP; Aragüés JM; Nobre E; Barbosa AP; Mascarenhas M
[Ad] Endereço:Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal.
[Ti] Título:A case of thyroid hormone resistance: a rare mutation.
[So] Source:Arq Bras Endocrinol Metabol;58(9):962-6, 2014 Dec.
[Is] ISSN:1677-9487
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Reduced sensitivity to thyroid hormones (RSTH) is a rare disease that affects about 3,000 individuals, belonging to about 1,000 families. It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH). We describe a 67-years old, Caucasian woman, with past history of subtotal thyroidectomy due to diffuse goiter, who presents with a recurrence of goiter. Although she is clinically euthyroid, laboratory evaluation shows persistent hyperthyroxinemia with non-suppressed TSH. Response to thyrotropin releasing hormone (TRH) test was normal and TSH concentrations were not suppressed during oral administration of suprafisiologic doses of levothyroxine (L-T4). Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene. The patient's son underwent thyroid function testing (TFT) and genetic study, both negative, suggesting a sporadic mutation. RSTH should be considered in all hyperthyroxinemic patients who are clinically euthyroid. Mutations interfering with three major steps required for TH action on target tissues have been, so far, identified (TR-ß, TR-α, MCT8, SPB2). Each mutation is associated with a distinctive syndrome. Goal of management is to maintain a normal serum TSH level and a eumetabolic state and offer appropriate genetic counselling and prenatal diagnosis. Inappropriate treatment of eumetabolic patients results in hypothyroidism and need for TH replacement.
[Mh] Termos MeSH primário: Mutação
Doenças Raras/genética
Síndrome da Resistência aos Hormônios Tireóideos/genética
[Mh] Termos MeSH secundário: Idoso
DNA/análise
Éxons
Feminino
Genes erbA
Bócio/genética
Seres Humanos
Hipertireoxinemia/sangue
Reação em Cadeia da Polimerase
Receptores do Hormônio Liberador da Tireotropina/sangue
Receptores do Hormônio Liberador da Tireotropina/efeitos dos fármacos
Recidiva
Testes de Função Tireóidea
Tireotropina/sangue
Tireotropina/efeitos dos fármacos
Tiroxina/farmacologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Thyrotropin-Releasing Hormone); 9002-71-5 (Thyrotropin); 9007-49-2 (DNA); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:150128
[Lr] Data última revisão:
150128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150129
[St] Status:MEDLINE


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[PMID]:25465606
[Au] Autor:Oliveira Md; Olimpio RM; Sibio MT; Moretto FC; Luvizotto Rde A; Nogueira CR
[Ad] Endereço:Department of Internal Medicine, Botucatu School of Medicine, University of São Paulo State, Botucatu, SP, Brazil.
[Ti] Título:Short-term effects of triiodothyronine on thyroid hormone receptor alpha by PI3K pathway in adipocytes, 3T3-L1.
[So] Source:Arq Bras Endocrinol Metabol;58(8):833-7, 2014 Nov.
[Is] ISSN:1677-9487
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The present study aimed to examine the effects of thyroid hormone (TH), more precisely triiodothyronine (T3), on the modulation of TH receptor alpha (TRα) mRNA expression and the involvement of the phosphatidyl inositol 3 kinase (PI3K) signaling pathway in adipocytes, 3T3-L1, cell culture. MATERIALS AND METHODS: It was examined the involvement of PI3K pathway in mediating T3 effects by treating 3T3-L1 adipocytes with physiological (P=10nM) or supraphysiological (SI =100 nM) T3 doses during one hour (short time), in the absence or the presence of PI3K inhibitor (LY294002). The absence of any treatment was considered the control group (C). RT-qPCR was used for mRNA expression analyzes. For data analyzes ANOVA complemented with Tukey's test was used at 5% significance level. RESULTS: T3 increased TRα mRNA expression in P (1.91±0.13, p<0.001), SI (2.14±0.44, p<0.001) compared to C group (1±0.08). This increase was completely abrogated by LY294002 in P (0.53±0.03, p<0.001) and SI (0.31±0.03, p<0.001). To examine whether TRα is directly induced by T3, we used the translation inhibitor cycloheximide (CHX). The presence of CHX completely abrogated levels TRα mRNA in P (1.15±0.05, p>0.001) and SI (0.99±0.15, p>0.001), induced by T3. CONCLUSION: These results demonstrate that the activation of the PI3K signaling pathway has a role in T3-mediated indirect TRα gene expression in 3T3-L1 adipocytes.
[Mh] Termos MeSH primário: Adipócitos/efeitos dos fármacos
Fosfatidilinositol 3-Quinase/metabolismo
RNA Mensageiro/metabolismo
Receptores alfa dos Hormônios Tireóideos/metabolismo
Tri-Iodotironina/farmacologia
[Mh] Termos MeSH secundário: Células 3T3-L1
Adipócitos/metabolismo
Animais
Diferenciação Celular
Cromonas/farmacologia
Expressão Gênica/genética
Genes erbA/efeitos dos fármacos
Camundongos
Morfolinas/farmacologia
Receptores alfa dos Hormônios Tireóideos/genética
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Chromones); 0 (Morpholines); 0 (RNA, Messenger); 0 (Thyroid Hormone Receptors alpha); 06LU7C9H1V (Triiodothyronine); 31M2U1DVID (2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one); EC 2.7.1.137 (Phosphatidylinositol 3-Kinase)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141204
[St] Status:MEDLINE


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[PMID]:25063548
[Au] Autor:Cardoso LF; de Paula FJ; Maciel LM
[Ad] Endereço:Department of Internal Medicine, Division of Endocrinology and Metabolism, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
[Ti] Título:Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis.
[So] Source:Bone;67:222-7, 2014 Oct.
[Is] ISSN:1873-2763
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone, which is usually due to mutations in the thyroid hormone receptor ß gene (THRB). Few studies have been conducted to investigate bone and mineral metabolism in RTH. OBJECTIVE: The objective of the study was to evaluate the clinical and biochemical parameters related to bone and mineral metabolism in RTH due to mutations in the THRB gene (RTHß). DESIGN AND PARTICIPANTS: We conducted a cross-sectional study on 14 patients with RTHß (RTHG), eight adults and six children, and 24 control subjects (CG). OUTCOMES: Serum measures included total calcium (TCa), inorganic phosphate (iP), alkaline phosphatase (AP), parathyroid hormone (PTH), 25-hydroxyvitamin D (25OHD), osteocalcin (OC), carboxyterminal telopeptide (CTX), and fibroblast growth factor 23 (FGF-23). We estimated the renal threshold phosphate concentration (TmPO4/GFR) and assessed bone mass using dual X-ray absorptiometry. RESULTS: Adults and children with RTH showed higher serum levels of TCa than controls (P=.029 and, P=.018 respectively). However, only children with RTH exhibited lower serum levels of iP than controls (P=.048). FGF-23 was higher in RTHß children (P=.04). RTHß adults had lower whole-body (P=.01) and lumbar spine (P=.01) bone mineral density than control subjects. The same pattern was observed when the results were expressed as Z-scores between groups, with a lower value in RTHG than in CG for the lumbar spine of adults (P=.03). No difference was observed between groups in PTH, 25OHD, AP, OC, and CTX. CONCLUSION: Biochemical abnormalities are seen in children with RTH (Low iP, high FGF23), while high calcium (with normal UCa) is seen in RTH subjects of all ages, and later on, in adult life, low BMD is seen. Considering that the TRα1 isoform is the predominant TR in the skeleton, we hypothesize that probably these patients may exhibit enhanced calcium flux from bone to circulation. Our data represent a challenge for new studies to unveil the control of calcium and phosphorus homeostasis and fracture risk in these patients.
[Mh] Termos MeSH primário: Cálcio/sangue
Genes erbA
Fósforo/sangue
Receptores beta dos Hormônios Tireóideos/genética
Síndrome da Resistência aos Hormônios Tireóideos/genética
Hormônios Tireóideos/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Densidade Óssea/fisiologia
Criança
Pré-Escolar
Estudos Transversais
Feminino
Fatores de Crescimento de Fibroblastos/sangue
Seres Humanos
Masculino
Meia-Idade
Mutação
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Thyroid Hormone Receptors beta); 0 (Thyroid Hormones); 0 (fibroblast growth factor 23); 27YLU75U4W (Phosphorus); 62031-54-3 (Fibroblast Growth Factors); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1505
[Cu] Atualização por classe:150708
[Lr] Data última revisão:
150708
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140727
[St] Status:MEDLINE


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[PMID]:24480136
[Au] Autor:Gogakos A; Logan JG; Waung JA; Bassett JH; Glüer CC; Reid DM; Felsenberg D; Roux C; Eastell R; Williams GR
[Ad] Endereço:Molecular Endocrinology Group, Department of Medicine, Imperial College London, 10th Floor Commonwealth Building, Hammersmith Campus, Du Cane Road, London W12 0NN, UK.
[Ti] Título:THRA and DIO2 mutations are unlikely to be a common cause of increased bone mineral density in euthyroid post-menopausal women.
[So] Source:Eur J Endocrinol;170(4):637-44, 2014 Apr.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: A new autosomal dominant disorder due to mutation of THRA, which encodes thyroid hormone receptor α, is characterised by severely delayed skeletal development but only slightly abnormal thyroid status. Adult mice with disrupted thyroid hormone action in bone due to a mutation of Thra or deletion of Dio2, encoding the type 2 deiodinase, have high bone mass and mineralisation despite essentially euthyroid status. No individuals with DIO2 mutations have been described and the adult phenotype of patients with THRA mutations is largely unknown. We hypothesised that screening euthyroid adults with high bone mineral density (BMD) could be used to identify individuals with mutations of THRA or DIO2. DESIGN: The Osteoporosis and Ultrasound Study (OPUS) is a 6-year prospective study of fracture-related factors from five European centres. METHODS: A cohort of 100 healthy euthyroid post-menopausal women with the highest BMD was selected from the OPUS population. We sequenced the intron-exon boundaries and critical exons of THRA and DIO2 in these subjects. TSH, free 3,5,3'-l-triiodothyronine, free thyroxine, vitamin D, parathyroid hormone and bone turnover marker concentrations, and BMD measurements were available in all OPUS participants. RESULTS: No coding sequence or splice site mutations affecting THRA or DIO2 were identified. CONCLUSIONS: Mutations affecting THRA or DIO2 are not a common cause of high BMD in healthy euthyroid post-menopausal women.
[Mh] Termos MeSH primário: Densidade Óssea/genética
Genes erbA/genética
Iodeto Peroxidase/genética
Pós-Menopausa
[Mh] Termos MeSH secundário: Absorciometria de Fóton
Idoso
Estudos de Coortes
Feminino
Genótipo
Seres Humanos
Meia-Idade
Mutação
Hormônio Paratireóideo/sangue
Estudos Prospectivos
Tireotropina/sangue
Tiroxina/sangue
Tri-Iodotironina/sangue
Vitamina D/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Parathyroid Hormone); 06LU7C9H1V (Triiodothyronine); 1406-16-2 (Vitamin D); 9002-71-5 (Thyrotropin); EC 1.11.1.- (iodothyronine deiodinase type II); EC 1.11.1.8 (Iodide Peroxidase); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1404
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140201
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-13-1009


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[PMID]:23292282
[Au] Autor:Muscat GE; Eriksson NA; Byth K; Loi S; Graham D; Jindal S; Davis MJ; Clyne C; Funder JW; Simpson ER; Ragan MA; Kuczek E; Fuller PJ; Tilley WD; Leedman PJ; Clarke CL
[Ad] Endereço:Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia. G.Muscat@uq.edu.au
[Ti] Título:Research resource: nuclear receptors as transcriptome: discriminant and prognostic value in breast cancer.
[So] Source:Mol Endocrinol;27(2):350-65, 2013 Feb.
[Is] ISSN:1944-9917
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:To identify biologically relevant groupings or clusters of nuclear receptors (NR) that are associated with breast neoplasia, with potentially diagnostic, discriminant or prognostic value, we quantitated mRNA expression levels of all 48 members of the human NR superfamily by TaqMan low-density array analysis in 116 curated breast tissue samples, including pre- and postmenopausal normal breast and both ERα(+) and ERα(-) tumor tissue. In addition, we have determined NR levels in independent cohorts of tamoxifen-treated ERα(+) and ERα(-) tissue samples. There were differences in relative NR mRNA expression between neoplastic and normal breast, and between ER(+) and ER(-) tumors. First, there is overexpression of the NUR77 subgroup and EAR2 in neoplastic breast. Second, we identify a signature of five NR (ERα, EAR2, NUR77, TRα, and RARγ) that classifies breast samples with more than 97% cross-validated accuracy into normal or cancer classes. Third, we find a novel negative association between five NR (TRß, NUR77, RORγ, COUP-TFII, and LRH1) and histological grade. Finally, four NR (COUP-TFII, TRß, PPARγ, and MR) are significant predictors of metastasis-free survival in tamoxifen-treated breast cancers, independent of ER expression. The present study highlights the discriminant and prognostic value of NR in breast cancer; identifies novel, clinically relevant, NR signatures; and highlights NR signaling pathways with potential roles in breast cancer pathophysiology and as new therapeutic targets.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Carcinoma Ductal/genética
Receptores Citoplasmáticos e Nucleares/metabolismo
[Mh] Termos MeSH secundário: Biomarcadores Tumorais/genética
Neoplasias da Mama/tratamento farmacológico
Neoplasias da Mama/mortalidade
Fator II de Transcrição COUP/metabolismo
Carcinoma Ductal/tratamento farmacológico
Carcinoma Ductal/mortalidade
Proteína Catiônica de Eosinófilo/biossíntese
Feminino
Expressão Gênica
Perfilação da Expressão Gênica
Regulação Neoplásica da Expressão Gênica
Genes erbA/fisiologia
Seres Humanos
Membro 1 do Grupo A da Subfamília 4 de Receptores Nucleares/biossíntese
PPAR gama/metabolismo
Prognóstico
RNA Mensageiro/análise
RNA Mensageiro/genética
Receptores Androgênicos/metabolismo
Receptores Estrogênicos/biossíntese
Receptores Estrogênicos/metabolismo
Receptores de Progesterona/metabolismo
Sobrevida
Tamoxifeno/uso terapêutico
Transcriptoma
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (COUP Transcription Factor II); 0 (NR2F2 protein, human); 0 (NR4A1 protein, human); 0 (Nuclear Receptor Subfamily 4, Group A, Member 1); 0 (PPAR gamma); 0 (RNA, Messenger); 0 (Receptors, Androgen); 0 (Receptors, Cytoplasmic and Nuclear); 0 (Receptors, Estrogen); 0 (Receptors, Progesterone); 094ZI81Y45 (Tamoxifen); EC 3.1.27.- (Eosinophil Cationic Protein)
[Em] Mês de entrada:1307
[Cu] Atualização por classe:170514
[Lr] Data última revisão:
170514
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130108
[St] Status:MEDLINE
[do] DOI:10.1210/me.2012-1265


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[PMID]:22425314
[Au] Autor:González Cabrera N; Kalic AK; Antón Miguel MÁ; Sierra Polo P; Vicente Vicente MÁ
[Ti] Título:Hyperthyroidism due to Graves-Basedow disease in a woman refractory to thyroid hormones.
[So] Source:Endocrinol Nutr;59(10):609-11, 2012 Dec.
[Is] ISSN:1579-2021
[Cp] País de publicação:Spain
[La] Idioma:eng; spa
[Mh] Termos MeSH primário: Genes erbA
Doença de Graves/genética
Tiroxina/sangue
Tri-Iodotironina/sangue
[Mh] Termos MeSH secundário: Adulto
Diagnóstico Diferencial
Éxons/genética
Feminino
Genes Dominantes
Bócio Nodular/sangue
Bócio Nodular/complicações
Bócio Nodular/diagnóstico por imagem
Doença de Graves/sangue
Doença de Graves/fisiopatologia
Doença de Graves/radioterapia
Heterozigoto
Seres Humanos
Hipotireoidismo/tratamento farmacológico
Hipotireoidismo/etiologia
Achados Incidentais
Radioisótopos do Iodo/efeitos adversos
Radioisótopos do Iodo/uso terapêutico
Mutação Puntual
Tireotropina/sangue
Tiroxina/uso terapêutico
Ultrassonografia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Iodine Radioisotopes); 06LU7C9H1V (Triiodothyronine); 9002-71-5 (Thyrotropin); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1312
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120320
[St] Status:MEDLINE



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