LIM/25 - Laboratório de Endocrinologia Celular e Molecular

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

Linhas de pesquisa: neoplasia endócrina múltipla tipo II; tumorigênese endócrina; diabetes mellitus; genes de candidatos a obesidade e obesidade infantil; biologia molecular da tireoide; genética do hipotireoidismo congênito e do câncer de tireoide; terapia gênica para câncer de tireoide; avaliação da excreção urinária da população.

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Recent Submissions

  1. Cabergoline should be attempted in progressing non-functioning pituitary macroadenoma

    EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.185, n.4, p.D11-D20, 2021

    Non-functioning pituitary adenomas (NFPA) usually present with symptoms of mass effect. Thus, the first-line treatment generally consists of transsphenoidal surgery. Since these tumors are usually large and invasive, postsurgical tumor remnants are common. Active surveillance is the follow-up str...

  2. Machine Learning-based Prediction Model for Treatment of Acromegaly With First-generation Somatostatin Receptor Ligands

    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v.106, n.7, p.2047-2056, 2021

    Context: Artificial intelligence (AI), in particular machine learning (ML), may be used to deeply analyze biomarkers of response to first-generation somatostatin receptor ligands (fg-SRLs) in the treatment of acromegaly. Objective: To develop a prediction model of therapeutic response of acromega...

  3. Thyroid collision tumor containing oncocytic carcinoma, classical and hobnail variants of papillary carcinoma and areas of poorly differentiated carcinoma

    ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.65, n.4, p.495-499, 2021

    Collision tumors are rare and may comprise components with different behavior, treatments, and prognosis. We report an unprecedented case of aggressive thyroid collision tumor containing widely invasive oncocytic carcinoma (OC), classical and hobnail (HPTC) variants of papillary carcinoma, and po...

  4. Hormone resistance and short stature: A journey through the pathways of hormone signaling

    MOLECULAR AND CELLULAR ENDOCRINOLOGY, v.536, article ID 111416, 12p, 2021

    Hormone resistances have been described in association with growth disorders, the majority involving the growth hormone (GH)/insulin-like growth factor 1(IGF-1) axis or hormones with specific paracrine-autocrine actions in the growth plate. Defects in hormone receptors or in proteins involved in ...

  5. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

    AMERICAN JOURNAL OF HUMAN GENETICS, v.108, n.8, p.1526-1539, 2021

    Pituitary hormone deficiency occurs in similar to 1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated individuals with hypopituita...

  6. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

    GENES, v.12, n.8, article ID 1128, 12p, 2021

    We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patient with severe isolated growth hormone deficien...

  7. Impaired Bone Microarchitecture in Premenopausal Women With Acromegaly: The Possible Role of Wnt Signaling

    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v.106, n.9, p.2690-2706, 2021

    Context: Acromegaly can impair bone integrity, increasing the risk of vertebral fractures (VFs). Objective: To evaluate the impact of isolated GH/IGF-I hypersecretion on bone turnover markers, Wnt inhibitors, bone mineral density (BMD), microarchitecture, bone strength and vertebral fractures in ...

  8. Fármacos que afetama homeostasia mineral óssea

    Braz, Manuela Giuliani Marcondes Rocha; Souza, Bruno Ferraz de. Fármacos que afetama homeostasia mineral óssea. In: Santos, Paulo Caleb Júnior de Lima; Girardi, Adriana Castello Costa; Cruz, Fábio Cardoso; Pereira, Gustavo José da Silva (eds). Litro-texto farmacologia. RIO DE JANEIRO: Atheneu, 2021. p.701-712.

  9. The phenotypic spectrum associated with OTX2 mutations in humans

    EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.185, n.1, p.121-135, 2021

    Objective: The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development.& nbsp; Design: We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study functional consequences, and establish OT...

  10. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.185, n.8, p.2335-2344, 2021

    Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities. During the last 1...