Multiple Endocrine Neoplasia Type 2a Genetic
Mostrando 1-12 de 18 artigos, teses e dissertações.
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1. Multiple endocrine neoplasia: the Chilean experience
Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the p
Clinics. Publicado em: 2012
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2. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations
Clinics. Publicado em: 2012
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3. Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2
Multiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during Transfection (RET) proto-oncogene, leading to its unregulated activation, are the underlying cause of this disease. Multiple endocrine neoplasia type 2 has been a model in clinical cancer gene
Clinics. Publicado em: 2012
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4. Multiple endocrine neoplasia type 2: achievements and current challenges
Incremental advances in medical technology, such as the development of sensitive hormonal assays for routine clinical care, are the drivers of medical progress. This principle is exemplified by the creation of the concept of multiple endocrine neoplasia type 2, encompassing medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism, which di
Clinics. Publicado em: 2012
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5. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for
Clinics. Publicado em: 2012
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6. RET codon 609 mutations: a contribution for better clinical managing
Medullary thyroid carcinoma currently accounts for 5-8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high mortality rate. As many as 75% of all medullary thyroid carcinomas are sporadic, with an average age at pres
Clinics. Publicado em: 2012
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7. Clinical and genetic aspects of familial isolated pituitary adenomas
Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituita
Clinics. Publicado em: 2012
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8. Identificação de moduladores genéticos em uma grande família com neoplasia endócrina múltipla (NEM1) / Identification of modifying genetic fatctors in a large family with multiple endocrine neoplasia type 1
A Neoplasia endócrina múltipla tipo 1 (NEM1; OMIM 131100) é uma síndrome endócrina hereditária, que envolve tumores nas glândulas paratireóides, pâncreas endócrino/duodeno e hipófise. Mutações germinativas no gene supressor de tumor MEN1 são identificadas em aproximadamente 80% dos casos familiais. Os casos restantes podem apresentar grandes de
Publicado em: 2011
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9. Análise do gene AIP na acromegalia familial isolada / Analysis of the AIP gene in familial isolated acromegaly
Acromegaly is a rare disfigurating and insidious disease characterized by enlargement of hands, feet and skull bones due to excess of growth hormone (GH) secreted by a pituitary tumor (somatotropinoma). The majority of the cases with acromegaly is sporadic, however it may occur in association with inherited disorders as Multiple Endocrine Neoplasia type 1 (M
Publicado em: 2010
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10. RET proto-oncogene mutations screening and detection in patients with multiple endocrine neoplasia type 2 using conformation sensitive gel electrophoresis / Detecção e rastreamento de mutações no proto-oncogene RET em pacientes com neoplasia endócrina múltipla tipo 2 por meio de eletroforese em gel sensível à conformação
A neoplasia endócrina múltipla tipo 2 (NEM-2) é uma síndrome tumoral herdada por mutações germinativas no proto-oncogene RET (RET) e transmitida por herança autossômica dominante. Atualmente, a indicação de tireoidectomia total preventiva é recomendada a indivíduos portadores de mutações no RET. Analisamos a aplicação do método Eletroforese
Publicado em: 2007
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11. Estudo da expressão dos receptores do peptídeo insulinotrópico dependente de glicose (GIPR) e do hormônio luteinizante (LHCGR) em tumores e hiperplasias do córtex adrenal / Expression Study of Glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) in adrenocortical tumors and hyperplasia
Introduction: The glucose- dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) are G-protein coupled receptors with a wide tissue expression pattern. The aberrant expression of these receptors has been described in cases of ACTH-independent macronodular adrenal hyperplasia (AIMAH) and in some adenomas, resulting in the i
Publicado em: 2007
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12. Identification of germline mutations and familial genetic screening in brazilian families with multiple endocrine neoplasia type 1 / Identificação de mutações e rastreamento gênico familiar em famílias brasileiras com neoplasia endócrina múltipla tipo 1
A Neoplasia Endócrina Múltipla tipo 1 (NEM1, OMIM 131100) é uma doença essencialmente caracterizada por sua complexidade clínica. A NEM1 afeta tanto tecidos endócrinos quanto tecidos não-endócrinos; apresenta tanto tumores malignos quanto tumores benignos; e apresenta extensa variabilidade clínica inter e intra-familiar quanto aos tipos de tumores e
Publicado em: 2007