Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]"'
Autor:
Daniel Otero-Albiol, Sandra Muñoz-Galván, Eva M. Verdugo-Sivianes, Amancio Carnero, Ana M. Rojas
Publikováno v:
Theranostics
Digital.CSIC. Repositorio Institucional del CSIC
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Digital.CSIC. Repositorio Institucional del CSIC
instname
[Rationale] SPINOPHILIN (SPN, PPP1R9B) is an important tumor suppressor involved in the progression and malignancy of different tumors depending on its association with protein phosphatase 1 (PP1) and the ability of the PP1-SPN holoenzyme to dephosph
Autor:
Kinza Rian, Marta R. Hidalgo, Cankut Çubuk, Matias M. Falco, Joaquín Dopazo, Carlos Loucera, Maria Peña-Chilet, Inmaculada Alamo-Alvarez, Marina Esteban-Medina
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 2968-2978 (2021)
Computational and Structural Biotechnology Journal
Digital.CSIC. Repositorio Institucional del CSIC
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Computational and Structural Biotechnology Journal
Digital.CSIC. Repositorio Institucional del CSIC
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Genome-scale mechanistic models of pathways are gaining importance for genomic data interpretation because they provide a natural link between genotype measurements (transcriptomics or genomics data) and the phenotype of the cell (its functional beha
Autor:
Marta San Martin-Alonso, Ana G. Rondón, Desiré García-Pichardo, Belén Gómez-González, Pedro A. Ortega, Andrés Aguilera
Publikováno v:
Microbial Cell
Digital.CSIC. Repositorio Institucional del CSIC
instname
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
Microbial Cell, Vol 7, Iss 7, Pp 190-198 (2020)
idUS. Depósito de Investigación de la Universidad de Sevilla
Digital.CSIC. Repositorio Institucional del CSIC
instname
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
Microbial Cell, Vol 7, Iss 7, Pp 190-198 (2020)
idUS. Depósito de Investigación de la Universidad de Sevilla
The stability and function of eukaryotic genomes is closely linked to histones and to chromatin structure. The state of the chromatin not only affects the probability of DNA to undergo damage but also DNA repair. DNA damage can result in genetic alte
Autor:
Diego Segura-Rodríguez, Francisco José Bermúdez-Jiménez, Lorena González-Camacho, Eduardo Moreno Escobar, Rocío García-Orta, Juan Emilio Alcalá-López, Alicia Bautista Pavés, José Manuel Oyonarte-Ramírez, Silvia López-Fernández, Miguel Álvarez, Luis Tercedor, Juan Jiménez-Jáimez
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Frontiers in Cardiovascular Medicine
Frontiers in Cardiovascular Medicine
Background: Arrhythmogenic cardiomyopathy (AC) is a life-threatening disease which predispose to malignant arrhythmias and sudden cardiac death (SCD) in the early stages of the disease. Risk stratification relies on the electrical, genetic, and imagi
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
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Digital.CSIC. Repositorio Institucional del CSIC
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Despite the growing evidence on impact of chromatin remodeling alterations in several genetic disorders, the comprehension of embryonic consequences remains a scientific challenge. The correct embryonic patterning is finely regulated and epigenetic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046c98d30ac0064a68d04f1745e0cbca
https://hdl.handle.net/10668/4534
https://hdl.handle.net/10668/4534
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::389b304b8eee7cddecf06598e314ecb1
https://hdl.handle.net/10668/4207
https://hdl.handle.net/10668/4207
Autor:
González-Cano, Rafael, Ruiz-Cantero, M. Carmen, Santos-Caballero, Miriam, Gómez-Navas, Carlos, Tejada, Miguel Á., Nieto, Francisco R.
Tetrodotoxin (TTX) is a potent neurotoxin found mainly in puffer fish and other marine and terrestrial animals. TTX blocks voltage-gated sodium channels (VGSCs) which are typically classified as TTX-sensitive or TTX-resistant channels. VGSCs play a k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2636::a96f86a5813e4cbfcad937a50a866112
https://hdl.handle.net/10668/4156
https://hdl.handle.net/10668/4156
Autor:
García-Delgado, Ana B., Valdés-Sánchez, María Lourdes, Morillo-Sánchez, María José, Ponte-Zuñiga, Beatriz, Díaz-Corrales, Francisco J., Cerda, Berta de la
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd6fee62c38c505ccec6db05cced326d
https://hdl.handle.net/10668/4094
https://hdl.handle.net/10668/4094
Autor:
Villa-Suárez, Juan Miguel, García-Fontana, Cristina, Andújar-Vera, Francisco, González-Salvatierra, Sheila, de Haro-Muñoz, Tomás, Contreras-Bolívar, Victoria, García-Fontana, Beatriz, Muñoz-Torres, Manuel
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2636::da868d6ceef493c398312305ffbe0d9a
https://hdl.handle.net/10668/3519
https://hdl.handle.net/10668/3519
Autor:
Berta de la Cerda, Alberto Cañibano-Hernández, Lourdes Valdés-Sánchez, Francisco J. Diaz-Corrales, Beatriz Ponte-Zuñiga, Ana B. García-Delgado
Publikováno v:
Stem Cell Research, Vol 53, Iss, Pp 102301-(2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64975511bbc751822a2bce9c5db9d232
https://hdl.handle.net/10668/4158
https://hdl.handle.net/10668/4158