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Akademický článek

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Publikováno v: JCI Insight, Vol 8, Iss 21 (2023)

Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w

Externí odkaz: https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

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Akademický článek

CECRE: Supervision and Control of Spanish Renewable Energies in the Last 15 years

Autor: Gema Garcia Platero, Mayte Garcia Casado, Marta Perez Garcia, Paula Junco Madero, David Alvira Baeza

Publikováno v: Journal of Modern Power Systems and Clean Energy, Vol 10, Iss 2, Pp 269-276 (2022)

From its commissioning in 2006 to the present, the Spanish Control Centre for Renewable Energies (CECRE) has been a worldwide pioneer and reference centre in the integration of renewable energies in the electrical system. In the last 15 years, CECRE

Externí odkaz: https://doaj.org/article/021c84d54bc64ade88b451d5a2fd9391

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Akademický článek

Prediction of Cocaine Inpatient Treatment Success Using Machine Learning on High-Dimensional Heterogeneous Data

Autor: Jose Tapia-Galisteo, Jose M. Iniesta, Carmen Perez-Gandia, Gema Garcia-Saez, Diego Urgeles Puertolas, Francisco J. Izquierdo, M. Elena Hernando

Publikováno v: IEEE Access, Vol 8, Pp 218936-218953 (2020)

The high prevalence of drug addiction is a major health challenge that pressures healthcare systems to respond with cost-effective treatments. To improve the treatment success of drug-dependent patients, it is necessary to identify the main associate

Externí odkaz: https://doaj.org/article/2a254c772ccf412d83f54be502f38610

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Akademický článek

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

Autor: Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicate

Externí odkaz: https://doaj.org/article/7b788bb3d7c2403c815d579012188e3e

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Akademický článek

Linear Time-Varying Luenberger Observer Applied to Diabetes

Autor: Juan Onofre Orozco-Lopez, Carlos Eduardo Castaneda, Agustin Rodriguez-Herrero, Gema Garcia-Saez, Elena Hernando

Publikováno v: IEEE Access, Vol 6, Pp 23612-23625 (2018)

We present a linear time-varying Luenberger observer (LTVLO) using compartmental models to estimate the unmeasurable states in patients with type 1 diabetes. The proposed LTVLO is based on the linearization in an operation point of the virtual patien

Externí odkaz: https://doaj.org/article/5e05e819285c442eb6544297b562c7d7

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Akademický článek

Liver-specific insulin receptor isoform A expression enhances hepatic glucose uptake and ameliorates liver steatosis in a mouse model of diet-induced obesity

Autor: Andrea Raposo Lopez-Pastor, Almudena Gomez-Hernandez, Sabela Diaz-Castroverde, Gloria Gonzalez-Aseguinolaza, Agueda Gonzalez-Rodriguez, Gema Garcia, Silvia Fernandez, Oscar Escribano, Manuel Benito

Publikováno v: Disease Models & Mechanisms, Vol 12, Iss 2 (2019)

Among the main complications associated with obesity are insulin resistance and altered glucose and lipid metabolism within the liver. It has previously been described that insulin receptor isoform A (IRA) favors glucose uptake and glycogen storage i

Externí odkaz: https://doaj.org/article/c2162c134e924abea02a8b359b1c6a73

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