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

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

A resorcinarene-based tetrabenzoimidazolylidene complex of rhodium

Autor: Pietro Vidossich, Sheila Ruiz-Botella, Eduardo Peris, Gregori Ujaque

Publikováno v: Dalton Transactions. 49:3181-3186

A tetrabenzoimidazolium-resorcinarene cavitand was used for the preparation of a tetra-benzoimidazolylidene of rhodium, which is unprecedented in the field of poly-NHC metal complexes. Both, the experimental and computational analysis of the molecule

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a38dcfc092299c8560f2d4b7ab4d0a4
https://doi.org/10.1039/d0dt00060d

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

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