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

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Recent Submissions

  • DAVIS, Erica E.; BALASUBRAMANIAN, Ravikumar; KUPCHINSKY, Zachary A.; KEEFE JR., David L.; PLUMMER, Lacey; KHAN, Kamal; MECZEKALSKI, Blazej; HEATH, Karen E.; LOPEZ-GONZALEZ, Vanesa; BALLESTA-MARTINEZ, Mary J.; MARGABANTHU, Gomathi; PRICE, Susan; GREENING, James; BRAUNER, Raja; VALENZUELA, Irene; CUSCO, Ivon; FERNANDEZ-ALVAREZ, Paula; WIERMAN, Margaret E.; LI, Taibo; LAGE, Kasper; BARROSO, Priscila Sales; CHAN, Yee-Ming; CROWLEY, William F.; KATSANIS, Nicholas (OXFORD UNIV PRESS, OXFORD, ENGLAND, 2020)
    Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular ...
  • ABREU, Ana Paula; TORO, Carlos A.; SONG, Yong Bhum; NAVARRO, Victor M.; BOSCH, Martha A.; EREN, Aysegul; LIANG, Joy N.; CARROLL, Rona S.; LATRONICO, Ana Claudia; RONNEKLEIV, Oline K.; AYLWIN, Carlos F.; LOMNICZI, Alejandro; OJEDA, Sergio; KAISER, Ursula B. (AMER SOC CLINICAL INVESTIGATION INC, ANN ARBOR, USA, 2020)
    The identification of loss-of-function mutations in MKRN3 in patients with central precocious puberty in association with the decrease in MKRN3 expression in the medial basal hypothalamus of mice before the initiation of ...
  • BARROSO, Priscila Sales; JORGE, Alexander Augusto Lima; LERARIO, Antonio Marcondes; MONTENEGRO, Luciana Ribeiro; VASQUES, Gabriela Andrade; AMATO, Lorena Guimaraes Lima; SILVEIRA, Leticia Ferreira Gontijo; MENDONCA, Berenice Bilharinho; LATRONICO, Ana Claudia (KARGER, BASEL, SWITZERLAND, 2020)
    Introduction:Constitutional delay of growth and puberty (CDGP) is the most prevalent cause of delayed puberty in both sexes. Family history of delayed puberty (2 or more affected members in a family) has been evidenced in ...
  • GRANADILLO, Jorge Luis; STEGMANN, Alexander P.A.; GUO, Hui; XIA, Kun; ANGLE, Brad; BONTEMPO, Kelly; RANELLS, Judith D.; NEWKIRK, Patricia; COSTIN, Carrie; VIRONT, Joleen; STUMPEL, Constanze T.; SINNEMA, Margje; PANIS, Bianca; PFUNDT, Rolph; KRAPELS, Ingrid P. C.; KLAASSENS, Merel; NICOLAI, Joost; LI, Jinliang; JIANG, Yuwu; MARCO, Elysa; CANTON, Ana; LATRONICO, Ana Claudia; MONTENEGRO, Luciana; LEHEUP, Bruno; BONNET, Celine; AMUDHAVALLI, Shivarajan M.; LAWSON, Caitlin E.; MCWALTER, Kirsty; TELEGRAFI, Aida; PEARSON, Richard; KVARNUNG, Malin; WANG, Xia; BI, Weimin; ROSENFELD, Jill Anne; SHINAWI, Marwan (BMJ PUBLISHING GROUP, LONDON, ENGLAND, 2020)
    Background Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes.TNRC6Bencodes a protein important for RNA silencing. Heterozygous ...
  • FRANCA, Monica M.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; SANTOS, Mariza G.; NISHI, Mirian Y.; DOMENICE, Sorahia; MORAES, Daniela R.; COSTALONGA, Everlayny F.; MACIEL, Gustavo A. R.; MACIEL-GUERRA, Andrea T.; GUERRA-JUNIOR, Gil; MENDONCA, Berenice B. (PUBLIC LIBRARY SCIENCE, SAN FRANCISCO, USA, 2020)
    Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis of a Brazilian cohort with POI. Genetic ...
  • ALMEIDA, Madson Q.; SILVA, Giovanio V.; DRAGER, Luciano F. (SPRINGER, NEW YORK, UNITED STATES, 2020)
    Purpose of Review Traditional statements in medical textbooks pointed that 90 to 95% of cases of hypertension is essential or primary. However, secondary hypertension seems to be common in those patients with resistant ...
  • CAVALCANTE, Lara Bessa Campelo Pinheiro; FREITAS, Thais Castanheira; MUSOLINO, Nina Rosa Castro; CESCATO, Valter Angelo Sperling; SILVA, Gilberto Ochman; FRAGOSO, Maria Candida Barisson Villares; JR, Paulo Puglia; BRONSTEIN, Marcello Delano; MACHADO, Marcio Carlos (SPRINGER, NEW YORK, UNITED STATES, 2020)
    Purpose To analyze the bilateral and simultaneous petrosal sinus sampling (BIPSS) in a subgroup of children and adolescents with ACTH-dependent Cushing's syndrome (ADCS) Methods Retrospective study in a tertiary reference ...
  • MANTOVANI, Giovanna; BASTEPE, Murat; MONK, David; SANCTIS, Luisa De; THIELE, Susanne; AHMED, S. Faisal; BUFO, Roberto; CHOPLIN, Timothee; FILIPPO, Gianpaolo De; DEVERNOIS, Guillemette; EGGERMANN, Thomas; ELLI, Francesca M.; RAMIREZ, Aurora Garcia; GERMAIN-LEE, Emily L.; GROUSSIN, Lionel; HAMDY, Neveen A. T.; HANNA, Patrick; HIORT, Olaf; JUEPPNER, Harald; KAMENICKY, Peter; KNIGHT, Nina; NORCY, Elvire Le; LECUMBERRI, Beatriz; LEVINE, Michael A.; MAEKITIE, Outi; MARTIN, Regina; MARTOS-MORENO, Gabriel Angel; MINAGAWA, Manasori; MURRAY, Philip; PEREDA, Arrate; PIGNOLO, Robert; REJNMARK, Lars; RODADO, Rebeca; 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 (KARGER, BASEL, SWITZERLAND, 2020)
    Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, ...
  • MOURA, Diogo Turiani Hourneaux de; MCCARTY, Thomas R.; RIBEIRO, Igor Braga; FUNARI, Mateus Pereira; OLIVEIRA, Pedro Victor Aniz Gomes de; MIRANDA NETO, Antonio Afonso de; MONTE JUNIOR, Epifanio Silvino do; TUSTUMI, Francisco; BERNARDO, Wanderley Marques; MOURA, Eduardo Guimaraes Hourneaux de; THOMPSON, Christopher C. (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)
    Serologic testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) promises to assist in assessing exposure to and confirming the diagnosis of coronavirus disease 2019 (COVID-19), and to provide a roadmap ...
  • BRONDANI, Vania B.; V, Maria Candida B. Fragoso (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)
    Purpose of review Adrenocortical tumor (ACT) is a rare disease with an annual worldwide incidence of 0.3-0.38/million children below 15 years old, and Brazilian population presents the highest incidence because of germline ...
  • CHAN, Yee-Ming; LIPPINCOTT, Margaret F.; BARROSO, Priscila Sales; ALLEYN, Cielo; BRODSKY, Jill; GRANADOS, Hector; ROBERTS, Stephanie A.; SANDLER, Courtney; SRIVATSA, Abhinash; SEMINARA, Stephanie B. (ENDOCRINE SOC, WASHINGTON, USA, 2020)
    Context: The management of youth with delayed puberty is hampered by difficulty in predicting who will eventually progress through puberty and who will fail to attain adult reproductive endocrine function. The neuropeptide ...
  • WEIGAND, Isabel; ALTIERI, Barbara; LACOMBE, Amanda M. F.; BASILE, Vittoria; KIRCHER, Stefan; LANDWEHR, Laura-Sophie; SCHREINER, Jochen; ZERBINI, Maria C. N.; RONCHI, Cristina L.; MEGERLE, Felix; BERRUTI, Alfredo; CANU, Letizia; VOLANTE, Marco; PAIVA, Isabel; CASA, Silvia Della; SBIERA, Silviu; FASSNACHT, Martin; V, Maria Candida B. Fragoso; TERZOLO, Massimo; KROISS, Matthias (ENDOCRINE SOC, WASHINGTON, USA, 2020)
    Context: Objective response rate to mitotane in advanced adrenocortical carcinoma (ACC) is approximately 20%, and adverse drug effects are frequent. To date, there is no marker established that predicts treatment response. ...
  • CONCEICAO, Barbara Brito da; CAVALCANTE, Isadora Pontes; KREMER, Jean Lucas; AURICINO, Thais Barabba; BENTO, Eduarda Correa; ZERBINI, Maria Claudia Nogueira; FRAGOSO, Maria Candida Barisson Villares; LOTFI, Claudimara Ferini Pacicco (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2020)
    Objective. To analyze the morphological and functional characteristics of primary macronodular adrenal hyperplasia (PMAH) nodules carrying or not carrying ARMC5 mutations and the consequences of the presence of mutations ...
  • TANNO, Fabio Yoshiaki; SROUGI, Victor; ALMEIDA, Madson Q.; YAMAUCHI, Fernando Ide; COELHO, Fernando Morbeck Almeida; NISHI, Mirian Yumie; ZERBINI, Maria Claudia Nogueira; SOARES, Iracy Silvia Correa; PEREIRA, Maria Adelaide Albergaria; CHARCHAR, Helaine Laiz Silva; LACOMBE, Amanda Meneses Ferreira; BRONDANI, Vania Balderrama; SROUGI, Miguel; NAHAS, Willian Carlos; MENDONCA, Berenice B.; CHAMBO, Jose Luis; FRAGOSO, Maria Candida Barisson Villares (ENDOCRINE SOC, WASHINGTON, USA, 2020)
    Purpose: This prospective study presents the results of a new approach in the treatment of primary macronodular adrenal hyperplasia (PMAII), with simultaneous total adrenalectomy of the larger adrenal gland and partial ...
  • RABELO, Nicollas Nunes; RODRIGUES, Renan Salomao; SALAME, Arthur Araujo Massoud; BRAZ-SILVA, Paulo Henrique; TEIXEIRA, Manoel Jacobsen; FIGUEIREDO, Eberval Gadelha (AMER ASSOC NEUROLOGICAL SURGEONS, ROLLING MEADOWS, USA, 2020)
  • KIM, Vera; WAL, Thijs van der; NISHI, Miriam Yumie; MONTENEGRO, Luciana Ribeiro; CARRILHO, Flair Jose; HOSHIDA, Yujin; ONO, Suzane Kioko (FUTURE MEDICINE LTD, LONDON, ENGLAND, 2020)
    Background & aim: Genetic variability in drug absorption, distribution, metabolism and excretion (ADME) genes contributes to the high heterogeneity of drug responses. The present study investigated polymorphisms of ADME ...
  • LERARIO, Antonio Marcondes; MOHAN, Dipika R.; MONTENEGRO, Luciana Ribeiro; FUNARI, Mariana Ferreira de Assis; NISHI, Mirian Yumie; NARCIZO, Amanda de Moraes; BENEDETTI, Anna Flavia Figueredo; OBA-SHINJO, Sueli Mieko; VITORINO, Aurelio Jose; SANTOS, Rogerio Alexandre Scripnic Xavier dos; JORGE, Alexander Augusto de Lima; ONUCHIC, Luiz Fernando; MARIE, Suely Kazue Nagahashi; MENDONCA, Berenice Bilharinho (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)
    OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant ...
  • INOUE-LIMA, Thais H.; VASQUES, Gabriela A.; NAKAGUMA, Marilena; BRITO, Luciana Pinto; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L. (KARGER, BASEL, SWITZERLAND, 2020)
    Background:The utility of insulin-like growth factor type 1 (IGF-1) is well established in the diagnosis of growth hormone deficiency (GHD), whereas IGF-binding protein type 3 (IGFBP-3) has a more controversial role. Most ...
  • GOMES, Larissa G.; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S. (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)
    Purpose of review Data on the long-term cardio-metabolic outcomes classical congenital adrenal hyperplasia (CAH) patients have been published with controversial results. Conventional treatment recommends hydrocortisone ...
  • BATISTA, Rafael Loch; VERDUGUEZ, Elisa dal Rosario; INACIO, Marlene; CUNHA, Flavia Siqueira; MARQUES, Mateus Diniz; GOMES, Natalia Lisboa Rosa Almeida; JR, Jose Antonio D. Faris; SIRCILI, Maria Helena Palma; MENDONCA, Berenice B.; COSTA, Elaine M. Frade; DOMENICE, Sorahia (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2020)
    Objective: Discrimination and bullying are common conditions among LGBT people. During schooling, these practices compromising education.The aim of this study is to evaluate educational attainment among Brazilian transgender ...

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