@cpschaaf.bsky.social & his team developed two new mouse models of the Bosch-Boonstra-Schaad optic atrophy syndrome, carrying patient-specific Nr2f1 variants and capturing key aspects of the #BBSOAS, offering insights into genotype-phenotype links underlying the syndrome.
#raredisease
bit.ly/4rsjQVC
#raredisease
bit.ly/4rsjQVC
December 1, 2025 at 12:02 PM
@cpschaaf.bsky.social & his team developed two new mouse models of the Bosch-Boonstra-Schaad optic atrophy syndrome, carrying patient-specific Nr2f1 variants and capturing key aspects of the #BBSOAS, offering insights into genotype-phenotype links underlying the syndrome.
#raredisease
bit.ly/4rsjQVC
#raredisease
bit.ly/4rsjQVC
An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS #SingleCell 🧪🧬🖥️
https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
September 23, 2026 at 10:00 AM
An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS #SingleCell 🧪🧬🖥️
https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
@thermofishersci.bsky.social's resource, RRID:AB_2576217, was just reported to be used in the paper. Thanks for making your methods matter! #methodsmatter #BetterScience #ReproducibleResearch
Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants
Read the full paper: Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants
doi.org
March 25, 2026 at 7:01 AM
@thermofishersci.bsky.social's resource, RRID:AB_2576217, was just reported to be used in the paper. Thanks for making your methods matter! #methodsmatter #BetterScience #ReproducibleResearch
An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
September 23, 2026 at 8:33 AM
An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
September 23, 2026 at 8:33 AM
An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS https://www.biorxiv.org/content/10.64898/2026.09.22.753406v1
Our BBSOAS Guide is Now Available in Spanish! 🇪🇸✨
Thank you to Dr. Álvaro López, HGU Santa Lucía, Cartagena for his incredible support in translating these vital resources! Find the guide here: bit.ly/SíndromeBBSOAS
#BBSOAS #GenéticaRara #NR2F1 #ConcienciaciónGenética
Thank you to Dr. Álvaro López, HGU Santa Lucía, Cartagena for his incredible support in translating these vital resources! Find the guide here: bit.ly/SíndromeBBSOAS
#BBSOAS #GenéticaRara #NR2F1 #ConcienciaciónGenética
April 1, 2025 at 10:06 AM
Our BBSOAS Guide is Now Available in Spanish! 🇪🇸✨
Thank you to Dr. Álvaro López, HGU Santa Lucía, Cartagena for his incredible support in translating these vital resources! Find the guide here: bit.ly/SíndromeBBSOAS
#BBSOAS #GenéticaRara #NR2F1 #ConcienciaciónGenética
Thank you to Dr. Álvaro López, HGU Santa Lucía, Cartagena for his incredible support in translating these vital resources! Find the guide here: bit.ly/SíndromeBBSOAS
#BBSOAS #GenéticaRara #NR2F1 #ConcienciaciónGenética
My 10 year old has BBSOAS (genetic) which means she's intellectually and developmentally disabled. This gives me hope until I realize the cunts who are running the show now.
May 15, 2025 at 9:18 PM
My 10 year old has BBSOAS (genetic) which means she's intellectually and developmentally disabled. This gives me hope until I realize the cunts who are running the show now.
Radio maken blijft mooi. Ook als het in beeld is.
Zeb uit Wijchen zingt zich vrij: Van zeldzaam syndroom tot krachtige songs
<p>Zeb heeft BBSOAS, een uiterst zeldzaam syndroom dat wereldwijd naar schatting slechts zo’n 350 tot 500 mensen treft. “Ik zeg altijd: iedereen is uniek, maar ik ben iets unieker,” vertelt hij met ee...
www.rn7.nl
February 21, 2026 at 1:33 PM
Radio maken blijft mooi. Ook als het in beeld is.