Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Luis Bermudez-Guzman"'
Autor:
Lorenzo Costa, Luis Bermudez-Guzman, Ikram Benouda, Paul Laissue, Adrien Morel, Karen Marcela Jiménez, Thierry Fournier, Laurence Stouvenel, Céline Méhats, Francisco Miralles, Daniel Vaiman
Publikováno v:
iScience, Vol 27, Iss 3, Pp 109260- (2024)
Summary: Preeclampsia is a major hypertensive pregnancy disorder with a 50% heritability. The first identified gene involved in the disease is STOX1, a transcription factor, whose variant Y153H predisposes to the disease. Two rare mutations were also
Externí odkaz:
https://doaj.org/article/b911a702ca1a4fb291a95d0fd611069d
Publikováno v:
Journal of Onco-Nephrology. 6:92-96
Surgery is the standard treatment for local renal cell carcinoma (RCC), but many patients are medically inoperable and local approaches such as radiofrequency ablation and cryoablation may be limited to smaller tumours. Conventional radiotherapy has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::528c6e95fc48744e5f49456a6aeba50f
https://doi.org/10.1177/23993693221123345
https://doi.org/10.1177/23993693221123345
Autor:
Sophie Dupuis, Marie-Sophie Girault, Morgane Le Beulze, Côme Ialy-Radio, Luis Bermúdez-Guzmán, Ahmed Ziyyat, Sandrine Barbaux
Publikováno v:
Cellular & Molecular Biology Letters, Vol 29, Iss 1, Pp 1-21 (2024)
Abstract By analyzing a mouse Interspecific Recombinant Congenic Strain (IRCS), we previously identified a quantitative trait locus (QTL), called Mafq1 on mouse chromosome 1, that is associated with male hypofertility and ultrastructural sperm abnorm
Externí odkaz:
https://doaj.org/article/e70e14beb1dd4db2b5606c8fc53f6627
Autor:
Luis Bermúdez-Guzmán
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Cancer cells usually depend on the aberrant function of one or few driver genes to initiate and promote their malignancy, an attribute known as oncogene addiction. However, cancer cells might become dependent on the normal cellular functions
Externí odkaz:
https://doaj.org/article/0f2665cd6d9046259223d3a03c0af7e3
Autor:
Luis Bermúdez-Guzmán, Alejandro Leal
Publikováno v:
Translational Neurodegeneration, Vol 8, Iss 1, Pp 1-14 (2019)
Abstract Mutations in DNA repair enzymes can cause two neurological clinical manifestations: a developmental impairment and a degenerative disease. Polynucleotide kinase 3′-phosphatase (PNKP) is an enzyme that is actively involved in DNA repair in
Externí odkaz:
https://doaj.org/article/500023f8d09a4d308bb1c8b6056164fb
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Five decades ago, Franz Halberg conceived the idea of a circadian-based therapy for cancer, given the differential tolerance to treatment derived from the intrinsic host rhythms. Nowadays, different experimental models have demonstrated that bo
Externí odkaz:
https://doaj.org/article/598e3ce9d7614c06a8a18d96f12397a2
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0237682 (2020)
The molecular function of a protein relies on its structure. Understanding how variants alter structure and function in multidomain proteins is key to elucidate the generation of a pathological phenotype. However, one may fall into the logical bias o
Externí odkaz:
https://doaj.org/article/edb1fd816e8c47f0a27ba6646b8ac3b3
Autor:
Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales
Publikováno v:
Cells, Vol 10, Iss 2, p 374 (2021)
Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mu
Externí odkaz:
https://doaj.org/article/b1eb36e1ee5c442bb46cfb2d7af66076