The genetics of familial disorders of the endocrine and neuroendocrine system

• Grant number: 96/00998-4
• Support Opportunities: Research Projects - Thematic Grants
• Start date: November 01, 1996
• End date: April 30, 2000
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Geraldo Antônio de Medeiros Neto
• Grantee: Geraldo Antônio de Medeiros Neto
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant(s): 00/03171-0 - Elevated anti-galactosyl antibody titers in endemic goiter., PUB.ART; 99/11022-6 - Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from brazil., PUB.ART; 98/15974-9 - Phenocopies for deafness and goiter development in a large inbred brazilian kindred with pendred's syndrome..., PUB.ART; + associated grants 98/15975-5 - Pathological findings in dyshormonogenetic goiter with defecte iodide transport., PUB.ART; 98/15589-8 - Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene., PUB.ART; 98/01188-1 - Agressive thyroid follicular carcinoma arising in a dyshormonogenetic goiter due to tpo gene mutation., AR.EXT; 97/12434-0 - "prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin..."., PUB.ART; 97/07831-0 - "congenital hypothyroid goiter with deficient thyroglobulin: identification of an endoplasmic reticulum storage..."., PUB.ART - associated grants

Abstract

This project aims to elucidate, at molecular level, the genetics of familial disorders of the endocrine and neuroendocrine system, that will produce phenotypic disturbances at clinical level. Our endocrine division has attracted many families with hereditary disorders including two kindreds with familial panhypopituitarism, several inborn defects of the thyroid system (defective transport of iodine, defects in the organification of iodine and defective thyroglobulin synthesis), insulin-receptor mutations, a large kindred with defective growth hormone gene, defective lh-fsh receptor among others. The search for the candidate genes for each of those disorders as well as the identification of the mutations responsible for the genetic defect will constitute the principal proposal of this project. (AU)

Scientific publications

(7)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

CAMARGO‚ R.; LIMBERT‚ E.; GILLAM‚ M.; HENRIQUES‚ M.M.; FERNANDES‚ C.; CATARINO‚ A.L.; SOARES‚ J.; ALVES‚ V.A.F.; KOPP‚ P.; MEDEIROS-NETO‚ G.. Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred’s syndrome. THYROID, v. 11, n. 10, p. 981-988, 2001. (96/00998-4)

NOGUEIRA‚ C.R.; KOPP‚ P.; ARSEVEN‚ O.K.; SANTOS‚ C.L.S.; JAMESON‚ J.L.; MEDEIROS-NETO‚ G.. Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil. THYROID, v. 9, n. 11, p. 1063-1068, 1999. (96/00998-4)

NOGUEIRA‚ C.R.; NGUYEN‚ L.Q.; COELHO-NETO‚ J.R.; ARSEVEN‚ O.K.; JAMESON‚ J.L.; KOPP‚ P.; MEDEIROS-NETO‚ G.A.. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia. THYROID, v. 9, n. 6, p. 523-529, 1999. (96/00998-4)

TARGOVNIK‚ H.M.; RIVOLTA‚ C.M.; MENDIVE‚ F.M.; MOYA‚ C.M.; VONO‚ J.; MEDEIROS-NETO‚ G.. Congenital goiter with hypothyroidism caused by a 5’splice site mutation in the thyroglobulin gene. THYROID, v. 11, n. 7, p. 685-690, 2001. (96/00998-4)

SANTOS‚ C.L.S.; BIKKER‚ H.; REGO‚ K.G.M.; NASCIMENTO‚ A.C.; TAMBASCIA‚ M.; DE VIJLDER‚ J.J.M.; MEDEIROS-NETO‚ G.. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. Clinical Endocrinology, v. 51, n. 2, p. 165-172, 1999. (96/00998-4)

CAMARGO‚ R.Y.A.; GROSS‚ J.L.; SILVEIRO‚ S.P.; KNOBEL‚ M.; MEDEIROS-NETO‚ G.. Pathological findings in dyshormonogenetic goiter with defective lodide transport. ENDOCRINE PATHOLOGY, v. 9, n. 3, p. 225-233, 1998. (96/00998-4)

TARGOVNIK‚ H.M.; FRECHTEL‚ G.D.; MENDIVE‚ F.M.; VONO‚ J.; COCHAUX‚ P.; VASSART‚ G.; MEDEIROS-NETO‚ G.. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. THYROID, v. 8, n. 4, p. 291-297, 1998. (96/00998-4)