The gene encodes a member of a nuclear receptor superfamily known as peroxisome proliferator-activated gamma (PPARγ). PPARγ plays an essential role in adipogenesis, stimulating the differentiation of preadipocytes into adipocytes....

Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil

da Silva M, Soares R, de Oliveira Filho A, Campos L, de Lima J, de Melo Campos J

Diabetol Metab Syndr . 2024 Jul; 16(1):145. PMID: 38951919

Introduction And Aim: Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. FPLD3 is characterized by a loss of fatty tissue in...

de Melo Campos J, Oliveira M, Soares L, Medeiros K, Campos L, Lima J

Genet Mol Biol . 2022 Nov; 45(3 Suppl 1):e20220086. PMID: 36354755

Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways,...

Health education actions on male breast cancer: A protocol for systematic review and meta analysis

Silva J, Torres G, Dos Reis L, de Melo Campos J, de Araujo Nunes V, Santos J, et al.

Medicine (Baltimore) . 2022 Oct; 101(42):e30931. PMID: 36281187

Background: Although rare, the rates of diagnosis of male breast cancer (MBC) have been increasing over the years, and it can be quite aggressive in the male organism. Some strategies...

Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy

Dantas de Medeiros J, Carneiro Bezerra B, Cruz H, Medeiros K, Cardoso de Melo M, Sales Craveiro Sarmento A, et al.

BMC Cardiovasc Disord . 2022 Aug; 22(1):384. PMID: 36008763

Background: Congenital Generalized Lipodystrophy (CGL) is an ultra-rare disease characterized by metabolic disorders. However, the evaluation of functional exercise capacity, cardiovascular (CV) response to exercise, and peripheral arterial disease (PAD)...

Coronary arterial calcification in patients with congenital generalised lipodystrophy: A case series

Feijo B, Mendonca R, Egito E, Lima D, de Melo Campos J, Lima J

Clin Endocrinol (Oxf) . 2022 Jul; 97(6):863-866. PMID: 35864565

No abstract available.

Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies

de Melo Campos J, Dantas de Medeiros J, Cardoso de Melo M, da Silva M, Oliveira de Sena M, Sales Craveiro Sarmento A, et al.

Biochim Biophys Acta Mol Basis Dis . 2021 Mar; 1867(6):166120. PMID: 33713793

Lipodystrophy syndromes are a group of rare diseases related to the pathological impairment of adipose tissue and metabolic comorbidities, including dyslipidemia, diabetes, insulin resistance, hypoleptinemia, and hypoadiponectinemia. They can be...

A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases

Lima J, Helena C Nobrega L, Moura Bandeira F, Pires Sousa A, Medeiros de Araujo Macedo T, Nogueira A, et al.

Atherosclerosis . 2021 Mar; 322:31-38. PMID: 33706081

Background And Aims: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading...

10.

XPA deficiency affects the ubiquitin-proteasome system function

de Sousa Leal A, de Azevedo Medeiros L, Munoz-Cadavid C, Oliveira R, de Souza Timoteo A, de Oliveira A, et al.

DNA Repair (Amst) . 2020 Jul; 94:102937. PMID: 32693352

Xeroderma pigmentosum complementation group A (XPA), is defective in xeroderma pigmentosum patients, causing pre-disposition to skin cancer and neurological abnormalities, which is not well understood. Here, we analyzed the XPA-deficient...