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Barbora Pekova, Sarka Dvorakova, Vlasta Sykorova, Gabriela Vacinova, Eliska Vaclavikova, Jitka Moravcova, Rami Katra, Petr Vlcek, Pavla Sykorova, Daniela Kodetova, Josef Vcelak and Bela Bendlova

only in clinical-pathological features, but also in genetic alterations. Main PTC-activating somatic mutations in the RAS , BRAF and TERT genes and RET/PTC rearrangements cause uncontrolled activation of MAPK and PI3K signaling pathways. It was

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Lijuan Yuan, Xihui Chen, Ziyu Liu, Dan Wu, Jianguo Lu, Guoqiang Bao, Sijia Zhang, Lifeng Wang and Yuanming Wu

affected ( 2 , 6 , 7 ). The first molecular genetic mutation related to PHO was identified in HPGD (MIM 601688) gene, which involved in the prostaglandin E2 metabolic pathway ( 8 ). HPGD encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH, EC 1

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Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

mortality due to hypersecretion of catecholamines and metanephrines, which induce hypertension and cardiovascular diseases. It is estimated that ~30% PCC/PGLs are genetically inherited disease, and this percentage may rise as new PCC/PGL-causing mutations

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R Solomon-Zemler, L Basel-Vanagaite, D Steier, S Yakar, E Mel, M Phillip, L Bazak, D Bercovich, H Werner and L de Vries

defects), IGFALS mutations and IGF1R gene mutations or rearrangements. Most reported IGF1R mutations were diagnosed in children born small for gestational age (SGA) ( 1 ). These mutations can affect ligand binding and/or reduce cell-surface IGF1R

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Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos

gland, and its activation induces LH and FSH secretion ( 5 ). GNRHR mutations explain about 3.5–16% of sporadic cases and up to 40% of familial cases of nCHH ( 6 ). Inheritance is autosomal recessive and patients usually have homozygous or compound

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Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

be pathogenic by multiple in silico programmes (SIFT, PolyPhen2, Mutation Taster, PROVEAN and CAAD). The sequencing reads carrying candidate variants were inspected visually using the Integrative Genomics Viewer (IGV) to reduce false-positive calls

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Filomena Cetani, Chiara Banti, Elena Pardi, Simona Borsari, Paolo Viacava, Paolo Miccoli, Liborio Torregrossa, Fulvio Basolo, Maria Rosa Pelizzo, Massimo Rugge, Gianmaria Pennelli, Guido Gasparri, Mauro Papotti, Marco Volante, Edda Vignali, Federica Saponaro and Claudio Marcocci

prevalence of PC (7) . Somatic inactivating mutations of the CDC73 gene have also been reported in up to 70% of apparently sporadic metastatic PC (8, 9, 10, 11, 12, 13, 14, 15, 16, 17) . Notably, in about one-third of patients, the mutations were germline

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Ana P Estrada-Flórez, Mabel E Bohórquez, Alejandro Vélez, Carlos S Duque, Jorge H Donado, Gilbert Mateus, Cesar Panqueba-Tarazona, Guadalupe Polanco-Echeverry, Ruta Sahasrabudhe, Magdalena Echeverry and Luis G Carvajal-Carmona

mutation has been associated with tumorigenesis in a wide range of human malignancies ( 9 ) and represents the most common PTC mutation. BRAF V600E has been associated with clinicopathological features, such as lymph node metastasis and advanced disease

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Paula Bruna Araujo, Leandro Kasuki, Carlos Henrique de Azeredo Lima, Liana Ogino, Aline H S Camacho, Leila Chimelli, Márta Korbonits and Monica R Gadelha

mutations and other genetic and/or epigenetic abnormalities have been related to SPA, but a minor subgroup of these adenomas can have a germline mutation in a predisposing gene with no known familial history of pituitary adenoma ( 2 ). Germline aryl

Open access

Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang and Xian-Liang Zhou

as severe hypertension with early penetrance, hypokalemia, decreased plasma concentration of renin and aldosterone and metabolic alkalosis. Mutations of the epithelial sodium channel (ENaC) genes are capable of increasing Na + reabsorption in the