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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | TUSSET, Cintia | - |
dc.contributor.author | NOEL, Sekoni D. | - |
dc.contributor.author | TRARBACH, Ericka B. | - |
dc.contributor.author | SILVEIRA, Leticia F. G. | - |
dc.contributor.author | JORGE, Alexander A. L. | - |
dc.contributor.author | BRITO, Vinicius N. | - |
dc.contributor.author | CUKIER, Priscila | - |
dc.contributor.author | SEMINARA, Stephanie B. | - |
dc.contributor.author | MENDONCA, Berenice B. de | - |
dc.contributor.author | KAISER, Ursula B. | - |
dc.contributor.author | LATRONICO, Ana Claudia | - |
dc.date.accessioned | 2013-07-30T14:41:57Z | - |
dc.date.available | 2013-07-30T14:41:57Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, v.56, n.9, p.646-652, 2012 | - |
dc.identifier.issn | 0004-2730 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/503 | - |
dc.description.abstract | Objective: To investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders. Subjects and methods: Two hundred and thirty seven patients were studied: 114 with central precocious puberty (CPP), 73 with normosmic isolated hypogonadotropic hypogonadism (IHH), and 50 with constitutional delay of growth and puberty (CDGP). The control group consisted of 150 Brazilian individuals with normal pubertal development. Genomic DNA was extracted from peripheral blood and the entire coding region of both TAC3 and TACR3 genes were amplified and automatically sequenced. Results: We identified one variant (p.A63P) in NKB and four variants, p.G18D, p.L58L (c.172C > T), p.W275* and p.A449S in NK3R, which were absent in the control group. The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP. The known p.G18D, p.L58L, and p.W275* variants were identified in three unrelated males with normosmic IHH. Conclusion: Rare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype. | - |
dc.description.abstract | OBJETIVO: Investigar a presença de variantes nos genes TAC3 e TACR3, os quais codificam a NKB e seu receptor (NK3R), respectivamente, em uma coorte de pacientes com distúrbios puberais centrais idiopáticos. SUJEITOS E MÉTODOS: Duzentos e trinta e sete pacientes foram estudados: 114 com puberdade precoce central (PPC), 73 com hipogonadismo hipogonadotrófico isolado normósmico (HHI) e 50 com retardo constitucional do crescimento e desenvolvimento (RCCD). O grupo controle consistiu de 150 indivíduos brasileiros que apresentaram desenvolvimento puberal normal. O DNA genômico foi extraído de sangue periférico, e as regiões codificadoras dos genes TAC3 e TACR3 foram amplificadas e sequenciadas automaticamente. RESULTADOS: Uma variante (p.A63P) foi identificada na NKB, e quatro variantes, p.G18D, p.L58L (c.172C>T), p.W275X e p.A449S, foram identificadas no NK3R, as quais foram ausentes no grupo controle. A variante p.A63P foi identificada em uma menina com PPC, e a variante p.A449S, em uma menina com RCCD. As variantes previamente descritas, p.G18D, p.L58L e p.W275X, foram identificadas em três indivíduos com HHI normósmico do sexo masculino não relacionados. CONCLUSÃO: Variantes raras nos genes TAC3 e TACR3 foram identificadas em pacientes com distúrbios puberais centrais idiopáticos. Mutações de perda de função no gene TACR3 foram associadas com o fenótipo de HHI normósmico. | - |
dc.description.sponsorship | Fapesp [05/04726-0] | - |
dc.description.sponsorship | Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [302825/2011-8, 305743/2011-8] | - |
dc.description.sponsorship | Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH) [U54 HD28138] | - |
dc.language.iso | eng | - |
dc.publisher | SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | - |
dc.relation.ispartof | Arquivos Brasileiros de Endocrinologia e Metabologia | - |
dc.rights | openAccess | - |
dc.subject | neurokinin B receptor | - |
dc.subject | central precocious puberty | - |
dc.subject | normosmic isolated hypogonadotropic hypogonadism | - |
dc.subject | constitutional delay of growth and puberty | - |
dc.subject | Neurocinina B | - |
dc.subject | receptor da neurocinina B | - |
dc.subject | puberdade precoce central | - |
dc.subject | hipogonadismo hipogonadotrófico isolado normósmico | - |
dc.subject | retardo constitucional do crescimento e desenvolvimento | - |
dc.subject.other | gonadotropin-releasing-hormone | - |
dc.subject.other | hypogonadotropic hypogonadism | - |
dc.subject.other | neurokinin-b | - |
dc.subject.other | tachykinin receptors | - |
dc.subject.other | constitutional delay | - |
dc.subject.other | propeptide mutation | - |
dc.subject.other | arcuate nucleus | - |
dc.subject.other | reproduction | - |
dc.subject.other | inheritance | - |
dc.subject.other | patterns | - |
dc.title | Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders | - |
dc.title.alternative | Análise de mutações nos genes TAC3 e TACR3 em pacientes com distúrbios puberais centrais idiopáticos | - |
dc.type | article | - |
dc.rights.holder | Copyright SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | - |
dc.identifier.doi | 10.1590/s0004-27302012000900008 | - |
dc.identifier.pmid | 23329188 | - |
dc.subject.wos | Endocrinology & Metabolism | - |
dc.type.category | original article | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | NOEL, Sekoni D.:Brigham & Womens Hosp, Div Endocrinol Diabet & Hypertens, Boston, MA 02115 USA; Brigham & Womens Hosp, Harvard Ctr Reprod Sci, Boston, MA 02115 USA | - |
hcfmusp.author.external | SEMINARA, Stephanie B.:Massachusetts Gen Hosp, Dept Med, Reprod Endocrine Unit, Boston, MA 02114 USA; Massachusetts Gen Hosp, Harvard Ctr Reprod Sci, Boston, MA 02114 USA | - |
hcfmusp.author.external | KAISER, Ursula B.:Brigham & Womens Hosp, Div Endocrinol Diabet & Hypertens, Boston, MA 02115 USA; Brigham & Womens Hosp, Harvard Ctr Reprod Sci, Boston, MA 02115 USA | - |
hcfmusp.description.beginpage | 646 | - |
hcfmusp.description.endpage | 652 | - |
hcfmusp.description.issue | 9 | - |
hcfmusp.description.volume | 56 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | WOS:000313706900008 | - |
hcfmusp.origem.id | 2-s2.0-84872796582 | - |
hcfmusp.origem.id | SCIELO:S0004-27302012000900008 | - |
hcfmusp.publisher.city | RIO DE JANEIRO, RJ | - |
hcfmusp.publisher.country | BRAZIL | - |
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dc.description.index | MEDLINE | - |
hcfmusp.remissive.sponsorship | CNPq | - |
hcfmusp.remissive.sponsorship | FAPESP | - |
hcfmusp.remissive.sponsorship | NIH | - |
hcfmusp.lim.ref | 2012 | - |
hcfmusp.citation.scopus | 42 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - HC/ICESP Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/25 Artigos e Materiais de Revistas Científicas - LIM/42 |
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