Author

Izarbe Aísa-Marín

Instituto de Salud Carlos IIIORCID 0000-0003-3705-4806Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:mouse· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1 Approach:statistical model· 1

Frequent Co-Authors

Gemma MarfanyiD· 2 shared Gemma NavarroiD· 1 shared Jaume LilloiD· 1 shared Juan M. VaquerizasiD· 1 shared Laura Calvo‐LópeziD· 1 shared M. José López-Iniesta· 1 shared Noèlia DíaziD· 1 shared Pedro de la VillaiD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Gemma MarfanyORCID

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2 papers

Recent·Most cited

GeneticsNeurobiology of DiseasePeer-reviewedMar 12, 2024

Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases

Izarbe Aísa-Marín, Quirze Rovira, Noèlia Díaz…·Gemma Marfany

The paper uses scRNA-seq to study NR2E3 mutations in mouse retinas, identifying hybrid photoreceptors and their role in disease.

9 citations

𝕏 PostBluesky

GeneticsNeurobiology of DiseasePeer-reviewedSep 30, 2020

Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates Retinitis Pigmentosa and Enhanced S-cone Syndrome models

Izarbe Aísa-Marín, M. José López-Iniesta, Santiago Milla Navarro…·Gemma Marfany

This paper generates two Nr2e3 mouse models using CRISPR-Cas9-D10A nickase to study retinal dystrophies, identifying a new short isoform and phenotypes resembling human RP and ESCS.

12 citations

mouseexperimental assay

𝕏 PostBluesky