3 documents found, page 1 of 1
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy...
Montenegro Junior, Renan Magalhães; Lima, Grayce Ellen da Cruz Paiva; Fernandes, Virgínia Oliveira; Montenegro, Ana Paula Dias RangelBackground: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26...
Avaliação do potencial citotóxico e mecanismo molecular das naftoquinonas sinté...
Pinheiro, Daniel PascoalinoCancer consists in a set of diseases, which present in common the disordered proliferation and the inability of normal cellular differentiation. It is a disease of high incidence and one of the main causes of mortality worldwide, with an estimate for Brazil, in the biennium 2016-2017, indicating the occurrence of about 600 thousand new cases. Despite the large arsenal of chemotherapy in clinic, several studies ...
Perfil clínico e molecular de pacientes portadores de neoplasia endócrina múlti...
Pinheiro, Daniel PascoalinoMEN-1 is a rare autosomal dominantly inherited syndrome caused by a mutation that inactivates the MEN1 gene (tumor suppressor gene). The clinical manifestation of MEN-1 is defined by the associated occurrence of at least two of the three main endocrine tumors related to MEN1: primary hyperparathyroidism (PHP), pituitary adenoma (PA) and gastroenteropancreatic tumors (GEPs). The MEN1 gene, involved in the syndro...