LIM/42 - Laboratório de Hormônios e Genética Molecular

LIM/42 - Laboratório de Hormônios e Genética Molecular

 

O Laboratório de Hormônios e Genética Molecular é ligado ao Departamento de Clínica Médica da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Linhas de pesquisa: distúrbios da determinação e diferenciação sexual; genética molecular; endocrinologia do desenvolvimento; distúrbios puberais; endocrinologia do desenvolvimento; genética molecular; tumorigênese adrenocortical; distúrbios do crescimento; endocrinologia do desenvolvimento; biologia molecular e transcrição gênica; hiperplasia adrenal congênita; transcrição gênica; genética molecular; receptor de andrógenos; citocromos hepáticos P450; disfunções e tumorigênese adrenocortical; genética molecular e tumorigênese hipofisária na doença de Cushing.

Site oficial: http://www.limhc.fm.usp.br/portal/lim42-laboratorio-de-hormonios-e-genetica-molecular/

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Recent Submissions

  • COLARES NETO, Guido de Paula; YAMAUCHI, Fernando Ide; BARONI, Ronaldo Hueb; BIANCHI, Marco de Andrade; GOMES, Andrea Cavalanti; CHAMMAS, Maria Cristina; MARTIN, Regina Matsunaga (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    Context: Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets ...
  • GOMES, M. B.; NEGRATO, C. A.; CALLIARI, L. E. P. (ELSEVIER IRELAND LTD, CLARE, IRELAND, 2015)
    Aims: Determine the relationship between age at menarche, glycemic control and cardiovascular risk factors in patients with type 1 diabetes living in urban areas. Methods: This was a multicenter cross-sectional study ...
  • WANICHI, Ingrid Quevedo; MARIANI, Beatriz Marinho de Paula; FRASSETTO, Fernando Pereira; SIQUEIRA, Sheila Aparecida Coelho; MUSOLINO, Nina Rosa de Castro; CUNHA-NETO, Malebranche Berardo Carneiro; OCHMAN, Gilberto; CESCATO, Valter Angelo Sperling; MACHADO, Marcio Carlos; TRARBACH, Ericka Barbosa; BRONSTEIN, Marcello Delano; FRAGOSO, Maria Candida Barisson Villares (SPRINGER, NEW YORK, USA, 2019)
    PurposeCushing's disease (CD) is a severe illness generally caused by microcorticotropinomas (MICs) and in approximately 7-20% of patients by macrocorticotropinomas (MACs). USP8-mutations have been identified as a major ...
  • V, Rita Weiss; HOHL, Alexandre; ATHAYDE, Amanda; PARDINI, Dolores; GOMES, Larissa; OLIVEIRA, Monica de; MEIRELLES, Ricardo; CLAPAUCH, Ruth; SPRITZER, Poli Mara (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2019)
    Objective: To summarize current evidence regarding testosterone treatment for women with low sexual desire. Materials and methods: The Female Endocrinology and Andrology Department of the Brazilian Society of Endocrinology ...
  • FERREIRA, Amanda Meneses; BRONDANI, Vania Balderrama; HELENA, Vanessa Petry; CHARCHAR, Helaine Laiz Silva; ZERBINI, Maria Claudia Nogueira; LEITE, Luiz Antonio Senna; HOFF, Ana Oliveira; LATRONICO, Ana Claudia; MENDONCA, Berenice Bilharinho; DIZ, Maria Del Pilar Estevez; ALMEIDA, Madson Queiroz de; FRAGOSO, Maria Candida Barisson Villares (PERGAMON-ELSEVIER SCIENCE LTD, OXFORD, ENGLAND, 2019)
    Background: The TP53 p.R337H germline mutation is highly prevalent among children with adrenocortical tumors (ACTs) from South and Southeast Brazil. However, the prevalence of other tumors of the Li-Fraumeni syndrome (LFS) ...
  • ROCHA, Thais; CRESPO, Raiane P.; YANCE, Viviane V. R.; HAYASHIDA, Sylvia A.; BARACAT, Edmund C.; CARVALHO, Filomena; DOMENICE, Sorahia; MENDONCA, Berenice B.; GOMES, Larissa G. (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    Context: Data on prevalence of metabolic risk factors in hyperandrogenic postmenopausal women are limited. Also, the correlation between metabolic disorders and androgen excess in this scenario is poorly understood. ...
  • GAMES, Larissa G.; CUNHA-SILVA, Marina; CRESPO, Raiane P.; RAMOS, Carolina O.; MONTENEGRO, Luciana R.; CANTON, Ana; LEES, Melissa; SPOUDEAS, Helen; DAUBER, Andrew; MACEDO, Delanie B.; BESSA, Danielle S.; MACIEL, Gustavo A.; BARACAT, Edmund C.; JORGE, Alexander A. L.; MENDONCA, Berenice B.; BRITO, Vinicius N.; LATRONICO, Ana Claudia (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    Background: Delta-like homolog 1 (DLK1), also called preadipocyte factor 1, prevents adipocyte differentiation and has been considered a molecular gatekeeper of adipogenesis. A DLK1 complex genomic defect was identified ...
  • VALADARES, Luciana Pinto; MEIRELES, Cinthia Gabriel; TOLEDO, Isabela Porto De; OLIVEIRA, Renata Santarem de; CASTRO, Luiz Claudio Goncalves de; ABREU, Ana Paula; CARROLL, Rona S.; LATRONICO, Ana Claudia; KAISER, Ursula B.; GUERRA, Eliete Neves Silva; LOFRANO-PORTO, Adriana (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    MKRN3 mutations represent the most common genetic cause of central precocious puberty (CPP) but associations between genotype and clinical features have not been extensively explored. This systematic review and meta-analysis ...
  • CHAMBERLIN, Adam; HUETHER, Robert; MACHADO, Aline Z.; GRODEN, Michael; LIU, Hsiao-Mei; UPADHYAY, Kinnari; VIVIAN, O.; GOMES, Nathalia L.; LERARIO, Antonio M.; NISHI, Mirian Y.; COSTA, Elaine M. F.; MENDONCA, Berenice; DOMENICE, Sorahia; VELASCO, Jacqueline; LOKE, Johnny; OSTRER, Harry (OXFORD UNIV PRESS, OXFORD, ENGLAND, 2019)
    Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update. J. Clin. Endocrinol. Metab., 99, 1503-1509]. ...
  • FREIRE, Bruna L.; HOMMA, Thais K.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; VASQUES, Gabriela A.; MALAQUIAS, Alexsandra C.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L. (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    Context: Patients born small for gestational age (SGA) who present with persistent short stature could have an underlying genetic etiology that will account for prenatal and postnatal growth impairment. We applied a unique ...
  • FRANCA, Monica M.; HAN, Xingfa; FUNARI, Mariana F. A.; LERARIO, Antonio M.; NISHI, Mirian Y.; FONTENELE, Eveline G. P.; DOMENICE, Sorahia; JORGE, Alexander A. L.; GARCIA-GALIANO, David; ELIAS, Carol F.; MENDONCA, Berenice B. (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    Context: Primary ovarian insufficiency (POI) is a cause of female infertility. However, the genetic etiology of this disorder remains unknown in most patients with POI. Objective: To investigate the genetic etiology of ...
  • HOMMA, Thais K.; FREIRE, Bruna; FUNARI, Mariana; MALAQUIAS, Alexsandra; RONJO, Rachel; VASQUES, Gabriela; CANTON, Ana; KIM, Chong; BERTOLA, Debora; JORGE, Alexander (KARGER, BASEL, SWITZERLAND, 2017)
  • NORONHA, Renata M.; HOMMA, Thais K.; SOUZA, Thaiana T.; FUNARI, Mariana; PEREIRA, Alexandre C.; BERTOLA, Debora; JORGE, Alexander; MALAQUIAS, Alexsandra C. (KARGER, BASEL, SWITZERLAND, 2017)
  • AMORIM, Paulo V. G. H.; GRANDE, Isabella P. P.; BATISTA, Rafael L.; SILVEIRA, Leticia F. G.; FREIRE, Ane Caroline T. B.; BRONSTEIN, Marcello D.; JALLAD, Raquel S.; TRARBACH, Ericka B. (MASSON EDITEUR, MOULINEAUX CEDEX 9, FRANCE, 2019)
    Objectives. - This study analyzed the KISS1 c.-145delA (rs5780218) promoter polymorphism in a cohort of patients with growth hormone secreting pituitary adenoma (somatotropinoma) and controls, to investigate its role in ...
  • MOHAN, Dipika R.; LERARIO, Antonio Marcondes; ELSE, Tobias; MUKHERJEE, Bhramar; ALMEIDA, Madson Q.; VINCE, Michelle; REGE, Juilee; MARIANI, Beatriz M. P.; ZERBINI, Maria Claudia N.; MENDONCA, Berenice B.; LATRONICO, Ana Claudia; MARIE, Suely K. N.; RAINEY, William E.; GIORDANO, Thomas J.; V, Maria Candida B. Fragoso; HAMMER, Gary D. (AMER ASSOC CANCER RESEARCH, PHILADELPHIA, USA, 2019)
    Purpose: Adrenocortical carcinoma (ACC) is a rare, aggressive malignancy with few therapies; however, patients with locoregional disease have variable outcomes. The Cancer Genome Atlas project on ACC (ACC-TCGA) identified ...
  • COSTA, Pedro L. F.; FRANCA, Monica M.; KATAYAMA, Maria L.; CARNEIRO, Eduardo T.; MARTIN, Regina M.; FOLGUEIRA, Maria A. K.; LATRONICO, Ana C.; FERRAZ-DE-SOUZA, Bruno (MDPI, BASEL, SWITZERLAND, 2019)
    The vitamin D receptor (VDR) mediates vitamin D actions beyond bone health. While VDR activation by 1,25-dihydroxyvitamin D (1,25D) leads to robust transcriptional regulation, less is known about VDR actions in the absence ...
  • CORREA, Fernanda A.; NAKAGUMA, Marilena; MADEIRA, Joao L. O.; NISHI, Mirian Y.; ABRAO, Milena G.; JORGE, Alexander A. L.; CARVALHO, Luciani R.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B. (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2019)
    The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations ...
  • BATISTA, Rafael Loch; INACIO, Marlene; ARNHOLD, Ivo Jorge Prado; GOMES, Nathalia Lisboa; FARIA JR., Jose Antonio Diniz; MORAES, Daniela Rodrigues de; COSTA, Elaine Maria Frade; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho (ENDOCRINE SOC, WASHINGTON, USA, 2019)
    Context: In 46,XY disorders of sexual development (DSD) patients, several factors may affect psychosexual development, leading to gender identity discrepancy and gender change later in life. Prenatal sexual steroid exposure ...
  • NAKAGUMA, Marilena; CORREA, Fernanda A.; SANTANA, Lucas S.; BENEDETTI, Anna F. F.; V, Ricardo Perez; HUAYLLAS, Martha K. P.; MIRAS, Mirta B.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; MENDONCA, Berenice B.; CARVALHO, Luciani R. S.; JORGE, Alexander A. L.; ARNHOLD, Ivo J. P. (BIOSCIENTIFICA LTD, BRISTOL, ENGLAND, 2019)
    Aim: Congenital hypopituitarism has an incidence of 1:3500-10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical ...
  • CASTRO, Patricia S.; RASSI, Tatiana O.; ARAUJO, Raquel F.; PEZZUTI, Isabela L.; RODRIGUES, Andresa S.; BACHEGA, Tania A. S. S.; SILVA, Ivani N. (WALTER DE GRUYTER GMBH, BERLIN, GERMANY, 2019)
    Background: Early diagnosis after newborn screening (NBS) for congenital adrenal hyperplasia (CAH) allows proper treatment, reducing mortality rates and preventing development of hyperandrogenic manifestations and incorrect ...

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