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Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
(AMER MEDICAL ASSOC, 2010)
Context Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest-derived neoplasms. We recently identified germline mutations of the novel transmembrane-encoding gene FP/TMEM127 in familial and ...
High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene
(ENDOCRINE SOC, 2010)
Context: Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes. Objective: Our objective was to report the clinical features of patients ...
Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chilenoBilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
(2022-08)
Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules ...
Carcinoma medular da tireoide e feocromocitoma esporádico e hereditário: investigação de eventos genéticos somáticos no gene ret
(Universidade Federal de São Paulo (UNIFESP), 2014-12-18)
Introduction: Mutations in the RET gene are associated with MEN 2 syndrome (multiple endocrine neoplasia type 2), which includes three types: familial medullary carcinoma (FMTC), characterized by medullary thyroid carcinoma ...
Surgical remission of diabetes in a patient with mutation of RET proto-oncogene
(Seguro Social de Salud (EsSalud)PE, 2021)
Objetivo: En feocromocitomas, la producción acelerada de catecolaminas puede causar diabetes secundaria. El gen responsable de los feocromocitomas relacionados con la neoplasia endocrina múltiple tipo 2 (MEN2) es el ...
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study
(Bioscientifica Ltd, 2019-03-01)
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. ...
Epidermal growth factor prevents thallium(I)- and thallium(III)-mediated rat pheochromocytoma (PC12) cell apoptosis
(Springer, 2017-03)
We have reported recently that the proliferation of PC12 cells exposed to micromolar concentrations of Tl(I) or Tl(III) has different outcomes, depending on the absence (EGF− cells) or the presence (EGF+ cells) of epidermal ...
Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10
(2011)
Multiple endocrine neoplasia type 2 is
characterized by germline mutations in RET. For exon
10, comprehensive molecular and corresponding phenotypic
data are scarce. The International RET Exon 10
Consortium, comprising ...
Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10
(WILEY-LISS, 2011)
Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 ...
Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
(2008)
RET testing in multiple endocrine neoplasia type 2 for molecular diagnosis is the paradigm for the practice of clinical cancer genetics. However, precise data for distinct mutation-based risk profiles are not available. ...