Výsledky vyhledávání - "Sheila Ruiz-Nogales"

Akademický článek

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients

Autor: Laura Siles, Sheila Ruiz-Nogales, Arnau Navinés-Ferrer, Pilar Méndez-Vendrell, Esther Pomares

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 64-79 (2023)

Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology. This pathology triggers progressive retinal degeneration and vision loss i

Externí odkaz: https://doaj.org/article/a12e24a087e64b53acef5886a2b23b05

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Akademický článek

Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

Autor: Judit Domingo-Prim, Marina Riera, Víctor Abad-Morales, Sheila Ruiz-Nogales, Borja Corcostegui, Esther Pomares

Publikováno v: Stem Cell Research, Vol 40, Iss , Pp - (2019)

Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mu

Externí odkaz: https://doaj.org/article/8b3b5105d92048eba75d69621c8ddd4b

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Akademický článek

Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection

Autor: Jesús M. Martín-Campos, Sheila Ruiz-Nogales, Daiana Ibarretxe, Emilio Ortega, Elisabet Sánchez-Pujol, Meritxell Royuela-Juncadella, Àlex Vila, Carolina Guerrero, Alberto Zamora, Cristina Soler i Ferrer, Juan Antonio Arroyo, Gemma Carreras, Susana Martínez-Figueroa, Rosa Roig, Núria Plana, Francisco Blanco-Vaca, Xarxa d’Unitats de Lípids i Arteriosclerosi (XULA)

Publikováno v: Biomedicines, Vol 8, Iss 9, p 353 (2020)

Familial hypercholesterolemia (FH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes. A pathological variant has not been identified

Externí odkaz: https://doaj.org/article/4da08de2fd09435ba9261bdf59aadd06

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Akademický článek

Administration of CORM-2 inhibits diabetic neuropathy but does not reduce dyslipidemia in diabetic mice.

Autor: Karen Alejandra Méndez-Lara, David Santos, Núria Farré, Sheila Ruiz-Nogales, Sergi Leánez, José Luis Sánchez-Quesada, Edgar Zapico, Enrique Lerma, Joan Carles Escolà-Gil, Francisco Blanco-Vaca, Jesús María Martín-Campos, Josep Julve, Olga Pol

Publikováno v: PLoS ONE, Vol 13, Iss 10, p e0204841 (2018)

The antinociceptive effects of the carbon monoxide-releasing molecule tricarbonyldichlororuthenium (II) dimer (CORM-2) during chronic pain are well documented, but most of its possible side-effects remain poorly understood. In this work, we examine t

Externí odkaz: https://doaj.org/article/aa15ecc4133f4656b62ea4eb7ea33c05

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Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

Autor: Pilar Méndez-Vendrell, Rafael Navarro, Esther Pomares, Borja Corcóstegui, Marina Riera, Sheila Ruiz-Nogales, Víctor Abad-Morales

Publikováno v: British Journal of Ophthalmology. 104:173-181

PurposeThis study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).MethodsClinical di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::96282454edd1e1f5bcb2f7b70387cfcf
https://doi.org/10.1136/bjophthalmol-2018-313672

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Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation

Autor: Arnau Navinés-Ferrer, Sheila Ruiz-Nogales, Rafael Navarro, Esther Pomares

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7432

Best Vitelliform Macular dystrophy (BVMD) is the most prevalent of the distinctive retinal dystrophies caused by mutations in the BEST1 gene. This gene, which encodes for a homopentameric calcium-activated ion channel, is crucial for the homeostasis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a183f1163c718223415c25f8cf79b3e0
https://doi.org/10.3390/ijms23137432

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Polygenic markers in patients diagnosed of autosomal dominant hypercholesterolemia in Catalonia : distribution of weighted LDL-c-raising SNP scores and refinement of variant selection

Autor: Gemma Carreras, Juan A. Arroyo, Elisabet Sánchez-Pujol, Núria Plana, Carolina Guerrero, Alberto Zamora, Susana Martínez-Figueroa, Àlex Vila, Meritxell Royuela-Juncadella, Xarxa d’Unitats de Lípids i Arteriosclerosi, Daiana Ibarretxe, Rosa Roig, Emilio Ortega, Cristina Soler i Ferrer, Jesús M. Martín-Campos, Francisco Blanco-Vaca, Sheila Ruiz-Nogales

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Biomedicines
Volume 8
Issue 9
Scientia
Biomedicines, Vol 8, Iss 353, p 353 (2020)

Hipercolesterolèmia familiar; Aterosclerosi; Puntuació de risc genètic Familial hypercholesterolemia; Atherosclerosis; Genetic risk scores Hipercolesterolemia familiar; Aterosclerosis; Puntuaciones de riesgo genético Familial hypercholesterolemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ff1a1c0658abff94c1934d907dab6d
https://ddd.uab.cat/record/252913

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Expanding the retinal phenotype of

Autor: Marina, Riera, Víctor, Abad-Morales, Rafael, Navarro, Sheila, Ruiz-Nogales, Pilar, Méndez-Vendrell, Borja, Corcostegui, Esther, Pomares

Publikováno v: The British journal of ophthalmology. 104(2)

This study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).Clinical diagnoses were b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dd3821c1af524644f0e436077c0cd831
https://pubmed.ncbi.nlm.nih.gov/31079053

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