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

  • BATISTA, Rafael Loch; TRARBACH, Ericka Barbosa; MARQUES, Mateus Diniz; CESCATO, Valter Angelo; SILVA, Gilberto Ochman da; HERKENHOFF, Clarissa G. Borba; CUNHA-NETO, Malebranche Berardo; MUSOLINO, Nina Rosa (ELSEVIER SCIENCE INC, NEW YORK, USA, 2018)
    BACKGROUND: Tumor recurrence or incomplete resection in nonfunctioning pituitary adenomas (NFPAs) is relatively common. However, predictive factors of tumor recurrence in NFPAs are not well established. We evaluated possible ...
  • OLIVEIRA, Leticia Ribeiro; HOMMA, Thais Kataoka; WOLOSZYNEK, Renata Reis; BRITO, Vinicius Nahime; LONGUI, Carlos Alberto (BMC, LONDON, ENGLAND, 2016)
    Background: The evaluation of prepubertal gonadal Leydig cells secretion requires gonadotropin stimulation. Urinary hCG (human chorionic gonadotropin) is currently unavailable in many countries, however, recombinant hCG ...
  • BATISTA, Rafael Loch; MENDONCA, Berenice Bilharinho (AME PUBL CO, SHATIN, PEOPLES R CHINA, 2018)
  • BESSA, Danielle S.; MASCHIETTO, Mariana; AYLWIN, Carlos Francisco; CANTON, Ana P. M.; BRITO, Vinicius N.; MACEDO, Delanie B.; CUNHA-SILVA, Marina; PALHARES, Heloisa M. C.; RESENDE, Elisabete A. M. R. de; BORGES, Maria de Fatima; MENDONCA, Berenice B.; NETCHINE, Irene; KREPISCHI, Ana C. V.; LOMNICZI, Alejandro; OJEDA, Sergio R.; LATRONICO, Ana Claudia (BMC, LONDON, ENGLAND, 2018)
    BackgroundRecent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty. We aimed to investigate the association of DNAm ...
  • GOMES, Nathalia L.; PAULA, Leila C. P. de; SILVA, Juliana M.; SILVA, Thatiana E.; LERARIO, Antonio M.; NISHI, Mirian Y.; BATISTA, Rafael L.; FARIA JUNIOR, Jose A. D.; MORAES, Daniela; COSTA, Elaine M. F.; HEMESATH, Tatiana P.; GUARAGNA-FILHO, Guilherme; LEITE, Julio C. L.; CARVALHO, Clarissa G.; DOMENICE, Sorahia; COSTA, Eduardo C.; MENDONCA, Berenice B. (WILEY, HOBOKEN, USA, 2019)
    Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor-1 (WT1) gene is involved in early gonadal development in ...
  • FRAGOSO, Maria Candida Barisson Villares; CAVALCANTE, Isadora Pontes; FERREIRA, Amanda Meneses; MARIANI, Beatriz Marinho de Paula; LOTFI, Claudimara Ferini Pacicco (MASSON EDITEUR, MOULINEAUX CEDEX 9, FRANCE, 2018)
    Recent advances in molecular genetics investigations of primary macronodular adrenal hyperplasia (PMAH) have been providing new insights for the research on this issue. The cAMP-dependent pathway is physiologically triggered ...
  • SILVA, Juliana M.; BATISTA, Rafael Loch; RODRIGUES, Andresa De Santi; NISHI, Mirian Y.; COSTA, Elaine M. F.; DOMENICE, Sorahia; CARVALHO, Luciani R. S.; MENDONCA, Berenice B. (WILEY, HOBOKEN, USA, 2018)
  • MACEDO, Delanie B.; FRANCA, Monica M.; MONTENEGRO, Luciana R.; CUNHA-SILVA, Marina; BEST, Danielle S.; ABREU, Ana Paula; KAISER, Ursula B.; MENDONCA, Berenice B.; JORGE, Alexander A. L.; BRITO, Vinicius N.; LATRONICO, Ana Claudia (KARGER, BASEL, SWITZERLAND, 2018)
    Context: Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). Whether MKRN3 alterations in regulatory ...
  • IMAGAWA, Eri; ALBUQUERQUE, Edoarda V. A.; ISIDOR, Bertrand; MITSUHASHI, Satomi; MIZUGUCHI, Takeshi; MIYATAKE, Satoko; TAKATA, Atsushi; MIYAKE, Noriko; BOGUSZEWSKI, Margaret C. S.; BOGUSZEWSKI, Cesar L.; LERARIO, Antonio M.; FUNARI, Mariana A.; JORGE, Alexander A. L.; MATSUMOTO, Naomichi (WILEY, HOBOKEN, USA, 2018)
    SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED. Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, ...
  • SPROLL, Patrick; EID, Wassim; GOMES, Camila R.; MENDONCA, Berenice B.; GOMES, Nathalia L.; COSTA, Elaine M. -F.; BIASON-LAUBER, Anna (WILEY, HOBOKEN, USA, 2018)
    BackgroundOne of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences ...
  • CARVALHO, Daniel Fiordelisio de; LETAIF, Leila Suemi Harima (Manole, BARUERI, BRAZIL, 2017)
  • Obesidade 
    CARVALHO, Daniel Fiordelisio de; DAHER, Gustavo (Manole, BARUERI, BRAZIL, 2017)
  • MACHADO, Marcio Carlos; FRAGOSO, Maria Candida Barisson Vilares; BRONSTEIN, Marcello Delano (W B SAUNDERS CO-ELSEVIER INC, PHILADELPHIA, USA, 2018)
    Progress in diagnosis and treatment of endocrine diseases has made pregnancy possible for women with endocrinopathies, including Cushing's syndrome (CS). The risk of maternal-fetal complications in patients who are not ...
  • SAITO, Hiroshi; NODA, Hiroshi; GATAULT, Philippe; BOCKENHAUER, Detlef; LOKE, Kah Yin; HIORT, Olaf; SILVE, Caroline; SHARWOOD, Erin; MARTIN, Regina Matsunaga; DILLON, Michael J.; GILLIS, David; HARRIS, Mark; RAO, Sudhaker D.; PAULI, Richard M.; GARDELLA, Thomas J.; JUPPNER, Harald (ENDOCRINE SOC, WASHINGTON, USA, 2018)
    Context: Five different activating PTH/PTH-related peptide (PTHrP) receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate ...
  • MANTOVANI, Giovanna; BASTEPE, Murat; MONK, David; SANCTIS, Luisa de; THIELE, Susanne; USARDI, Alessia; AHMED, S. Faisal; BUFO, Roberto; CHOPLIN, Timothee; FILIPPO, Gianpaolo De; DEVERNOIS, Guillemette; EGGERMANN, Thomas; ELLI, Francesca M.; FRESON, Kathleen; RAMIREZ, Aurora Garcia; GERMAIN-LEE, Emily L.; GROUSSIN, Lionel; HAMDY, Neveen; HANNA, Patrick; HIORT, Olaf; JUPPNER, Harald; KAMENICKY, Peter; KNIGHT, Nina; KOTTLER, Marie-Laure; NORCY, Elvire Le; LECUMBERRI, Beatriz; LEVINE, Michael A.; MAKITIE, Outi; MARTIN, Regina; MARTOS-MORENO, Gabriel Angel; MINAGAWA, Masanori; MURRAY, Philip; PEREDA, Arrate; PIGNOLO, Robert; REJNMARK, Lars; RODADO, Rebecca; ROTHENBUHLER, Anya; SARAFF, Vrinda; SHOEMAKER, Ashley H.; SHORE, Eileen M.; SILVE, Caroline; TURAN, Serap; WOODS, Philip; ZILLIKENS, M. Carola; NANCLARES, Guiomar Perez de; LINGLART, Agnes (NATURE PUBLISHING GROUP, NEW YORK, USA, 2018)
    This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings ...
  • KRAUSS, Tobias; FERRARA, Alfonso Massimiliano; LINKS, Thera P.; WELLNER, Ulrich; BANCOSS, Irina; KVACHENYUK, Andrey; HERAS, Karim Villar Gomez de las; YUKINA, Marina Y.; PETROV, Roman; BULLIVANT, Garrett; DUECKER, Laura von; JADHAV, Swati; PLOECKINGER, Ursula; WELIN, Staffan; SCHALIN-JANTTI, Camilla; GIMM, Oliver; PFEIFER, Marija; NGEOW, Joanne; HASSE-LAZAR, Kornelia; SANSO, Gabriela; QI, Xiaoping; UGURLU, M. Umit; DIAZ, Rene E.; WOHLLK, Nelson; PECZKOWSKA, Mariola; ABERLE, Jens; JR, Delmar M. Lourenco; PEREIRA, Maria A. A.; V, Maria C. B. Fragoso; HOFF, Ana O.; ALMEIDA, Madson Q.; VIOLANTE, Alice H. D.; OUIDUTE, Ana R. P.; ZHANG, Zhewei; RECASENS, Monica; DIAZ, Luis Robles; KUNAVISARUT, Tada; WANNACHALEE, Taweesak; SIRINVARAVONG, Sirinart; JONASCH, Eric; GROZINSKY-GLASBERG, Simona; FRAENKEL, Merav; BELTSEVICH, Dmitry; I, Viacheslav Egorov; BAUSCH, Dirk; SCHOTT, Matthias; TILING, Nikolaus; PENNELLI, Gianmaria; ZSCHIEDRICH, Stefan; DAERR, Roland; RUF, Juri; DENECKE, Timm; LINK, Karl-Heinrich; ZOVATO, Stefania; DOBSCHUETZ, Ernst von; YAREMCHUK, Svetlana; AMTHAUER, Holger; MAKAY, Ozer; PATOCS, Attila; WALZ, Martin K.; HUBER, Tobias B.; SEUFERT, Jochen; HELLMAN, Per; EKATERINA, Raymond H.; KUCHINSKAYA, Ekaterina; SCHIAVI, Francesca; MALINOC, Angelica; REISCH, Nicole; JARZAB, Barbara; BARONTINI, Marta; JANUSZEWICZ, Andrzej; SHAH, Nalini; YOUNG JR., William F.; OPOCHER, Giuseppe; ENG, Charis; NEUMANN, Hartmut P. H.; BAUSCH, Birke (BIOSCIENTIFICA LTD, BRISTOL, ENGLAND, 2018)
    Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival ...
  • PIPEK, Leonardo Zumerkorn; JARDIM, Yuri Justi; MESQUITA, Gustavo Heluani Antunes de; NII, Fernanda; MEDEIROS, Kayo Augusto de Almeida; CARVALHO, Barbara Justo; MARTINES, Diego Ramos; IUAMOTO, Leandro Ryuchi; WAISBERG, Daniel Reis; D'ALBUQUERQUE, Luiz Augusto Carneiro; MEYER, Alberto; ANDRAUS, Wellington (BAISHIDENG PUBLISHING GROUP INC, PLEASANTON, USA, 2018)
    Primary hepatic gastrinoma is a rare disease, with fewer than 40 cases reported in the medical literature. Because it is located in an organ in which metastases are common, its diagnosis is difficult. We report a case of ...
  • SOARES, Andressa Heimbecher; HORIE, Nidia Celeste; CHIANG, Lucas Augusto Piccinin; CARAMELLI, Bruno; MATHEUS, Mariana Gomes; CAMPOS, Alexandre Holthausen; MARTI, Luciana Cavalheiro; ROCHA, Fernanda Agostini; MANCINI, Marcio C.; COSTA, Elaine Maria Frade; CERCATO, Cintia (NATURE PUBLISHING GROUP, LONDON, ENGLAND, 2018)
    Background Obesity causes secondary hypogonadism (HG) in men. Standard testosterone (T) replacement therapy improves metabolic parameters but leads to infertility. Objective To evaluate clomiphene citrate (CC) treatment ...
  • LESSEL, Davor; GEHBAUER, Christina; BRAMSWIG, Nuria C.; SCHLUTH-BOLARD, Caroline; VENKATARAMANAPPA, Sathish; GASSEN, Koen L. I. van; HEMPEL, Maja; HAACK, Tobias B.; BARESIC, Anja; GENETTI, Casie A.; FUNARI, Mariana F. A.; LESSEL, Ivana; KUHLMANN, Leonie; SIMON, Ruth; LIU, Pentao; DENECKE, Jonas; KUECHLER, Alma; KRUIJFF, Ineke de; SHOUKIER, Moneef; LEK, Monkol; MULLEN, Thomas; LUEDECKE, Hermann-Josef; LERARIO, Antonio M.; KOBBE, Robin; KRIEGER, Thorsten; DEMEER, Benedicte; LEBRUN, Marine; KEREN, Boris; NAVA, Caroline; BURATTI, Julien; AFENJAR, Alexandra; SHINAWI, Marwan; SACOTO, Maria J. Guillen; GAUTHIER, Julie; HAMDAN, Fadi F.; LABERGE, Anne-Marie; CAMPEAU, Philippe M.; LOUIE, Raymond J.; CATHEY, Sara S.; PRINZ, Immo; JORGE, Alexander A. L.; TERHAL, Paulien A.; LENHARD, Boris; WIECZOREK, Dagmar; STROM, Tim M.; AGRAWAL, Pankaj B.; BRITSCH, Stefan; TOLOSA, Eva; KUBISCH, Christian (OXFORD UNIV PRESS, OXFORD, ENGLAND, 2018)
    The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development ...
  • LOPES, Mateus Cavarzan; RAMOS, Carolina Oliveira; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; BRITO, Vinicius N. (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)
    OBJECTIVES: Unfavorable predicted adult height and psychosocial inadequacy represent parameters used to guide therapeutic intervention in girls with central precocious puberty. Gonadotropin-releasing hormone analog is the ...

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