Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1α gene

Autor: Julio Escribano Martínez, Luz María López Jiménez, Silvia Aznar Rodríguez, Pedro José Pinés Corrales, José Juan Lozano García, María Pilar López Garrido, José Joaquín Alfaro Martínez, Francisco Botella Romero, Antonio Hernández López, Lynda Louhibi Rubio, Ramón Requejo Castillo, Cristina Lamas Oliveira

Publikováno v: Endocrinología y Nutrición. 57:4-8

The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1alpha gene.The study included 31 previously diagnosed subjects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac02f2a347d45debc68bf42388a92ab5
https://doi.org/10.1016/s1575-0922(10)70002-4

VHL Protein Alterations in Sporadic Renal Cell Carcinoma

Autor: M.J. Donate-Moreno, Juan G. Lorenzo-Romero, José M. Giménez-Bachs, J.A. Virseda-Rodríguez, P. Carrión-López, Antonio S. Salinas-Sánchez, H. Pastor-Navarro, Francisco Sánchez-Sánchez, Julio Escribano-Martínez

Publikováno v: Clinical Oncology. 19:784-789

Aims The vhl gene is a tumour suppressor gene implicated in renal tumorigenesis in both familial and sporadic renal cell carcinoma (RCC). Alterations in the gene may modify its suppressor function and allow the formation of renal tumours. The purpose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27021f5075419cad31fd3a4e27c7f4df
https://doi.org/10.1016/j.clon.2007.08.014

Determination of vhl Gene Mutations in Sporadic Renal Cell Carcinoma

Autor: Julio Escribano-Martínez, José M. Giménez-Bachs, Héctor Pastor-Navarro, María J. Donate-Moreno, Dolores C. García-Olmo, Francisco Sánchez-Sánchez, Antonio S. Salinas-Sánchez, Julio A. Virseda-Rodríguez, Juan G. Lorenzo-Romero

Publikováno v: European Urology. 49:1051-1057

Objective Characterization of the molecular status of the vhl gene and its relationship to the usual prognostic factors could help establish new diagnostic and therapeutic strategies. This study determines the presence of vhl gene mutations in tumor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77d2a0bc623cc1b69e79c5c217c33268
https://doi.org/10.1016/j.eururo.2005.10.028

Contents Vol. 79, 2007

Autor: Carmen Pérez Romero, María del Puerto López del Amo González, Hamed Jalaeian, Zahran Budair, D.T. Consigliere, Yi Jun Shen, Isao Hara, Erkan Demir, Atsushi Takenaka, A. Blandino, Selahattin Bedir, P. Monardo, Hüseyin Aydemir, Yao Zhu, Takashi Tominaga, Selami Albayrak, Masato Fujisawa, Francesca Vichi, Erik Kouba, Toshifumi Kurahashi, Vedat Köksal, Francis Vacherot, Héctor Pastor-Navarro, Hideaki Miyake, Omer F. Karakas, Julio Escribano-Martínez, María J. Donate-Moreno, Yutaka Matsuyama, Manuel Atienzar-Tobarra, Toshiyuki Un-no, Kimio Fujita, Ali Thwaini, Miguel Segura-Martín, Xu Dong Yao, A.L. Morton, Mehdi Salehipour, T. Tony Cai, Iqbal S. Shergill, Yasuo Ohashi, Makoto Fujime, G. Bellinghieri, P.A. McArdle, Riccardo Bartoletti, H.H. Lim, J. Slade Hubbard, Kerem Inanoglu, D. Santoro, Selcuk Sahin, Bo Dai, Luca Cindolo, Volkan Tugcu, Francisco Sánchez-Sánchez, Eric Wallen, Fatih Zorluoglu, Onder Canguven, Cemal Göktaş, Hai Liang Zhang, Koray Erten, A. Magistro, José M. Giménez-Bachs, Ibrahim Hernández-Millán, K.K. Bhomi, Seijiro Honma, Mete Kilciler, Abdolaziz Khezri, Shi Lin Zhang, Clara Bermúdez-Tamayo, Shunsuke Nobata, Antonio Costanzi, Umberto Farina, Nader Tanideh, Stéphane Terry, F. Ciolino, Ahmet Fuat Peker, Antonio S. Salinas-Sánchez, H.Y. Tiong, Z. Hotiana, Ahmet Namık Kiper, Mohsen Kroup, Valiallah Azizi, Ding Wei Ye, Raj S. Pruthi, Fumitaka Shimizu, C.J. Adams, Wen Zhang, Alexandre de la Taille, José Jesús Martín Martín, Gianluca Giubilei, Seiichiro Ozono, Ali Ihsan Tasci, B. Cagla Ozbakis Akkurt, R.J.T. Alexander, Yılmaz Ordekci, V. Savica, Cenk Kilic, Ahmad Monabbati, Monica Cantile, Juan G. Lorenzo-Romero, Sadık Görür, Manit Arya, B. Vissamsetti, Hiroshi Sudoko, Yasar Candan, Shinsuke Hayami

Publikováno v: Urologia Internationalis. 79:381-383

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c73faa2f0eea6cc6b33f97e054b3ad7d
https://doi.org/10.1159/000111574

[Promoter hypermethylation status of the mismatch repair gene hMLH1 in patients with sporadic renal cell carcinoma]

Autor: Antonio S, Salinas-Sánchez, Antonio, Rubio-del-Campo, Francisco, Sánchez-Sánchez, José M, Giménez-Bachs, María J, Donate-Moreno, Dolores C, García-Olmo, Julio, Escribano-Martínez

Publikováno v: Medicina clinica. 126(12)

Epigenetic inactivation is a gene function abnormality that produces no changes in the DNA sequence, with the most frequent epigenetic alteration being hypermethylation of CpG islands in the promoter regions of the genes. Based on recent indications

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c53a598baec277e1f209cd957db98530
https://pubmed.ncbi.nlm.nih.gov/16620732