To confirm that both normal and BBS10 mutant hiPSCs could be differentiated toward the neural crest lineage, we used a 5- day induction protocol where activation of the WNT pathway

To confirm that both normal and BBS10 mutant hiPSCs could be differentiated toward the neural crest lineage, we used a 5- day induction protocol where activation of the WNT pathway

Keywords: Bardet-Biedl syndrome, eye, retinal degeneration, ciliopathy, blindness, BBSome, photoreceptor, nyctalopia, Joubert syndrome, Leber Congenital

BBS, Bardet-Biedl syndrome; CORS, cerebello-oculo-renal syndrome; IFT, intraflagella transport; JATD, Jeune asphyxiating thoracic dystrophy; JBTS, Joubert syndrome; KS,

Keywords: Ciliopathy, Retinal degeneration, Primary cilium, Sensory cilia, CEP290, RPGR, Bardet – Biedl syndrome, Leber congenital amaurosis, Joubert syndrome,

Personalised medicine; Bardet-Biedl syndrome; deep phenotyping; next-generation sequencing; gene therapy; gene editing; read-through therapy; exon skipping; targeted drug

Keywords: anterior laryngeal web, Bardet–Biedl syndrome, bifid epiglottis, laryngeal anomalies, paediatric anaesthesia, paediatric obesity, stridor, craniofacial syndromes,

Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other

AMD: Age-related macular degeneration; BBS: Bardet-Biedl syndrome; ChIP: Chromatin immunoprecipitation; CNV: Copy number variation; CRE: cis -regulatory element; eQTL:

An educational practitioner preparation program that is operated by a school that applies to register the program in accordance with this chapter must be accredited by an agency

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel

While her formula recipe and volume were not changed at this visit, the mom and RD discussed working with a RD that specializes in Bardet-Biedl syndrome and possibly trying

Technologies Infused: When NASA launches its mission to explore Jupiter’s moon Europa in the 2020s, seven instruments enabled by SMD technology investments or flight

In conclusion, we reported a Chinese BBS family and identified novel compound heterozygous mutations c.3616G>A and c.6037C>T in the FBN3 gene in the two affected

Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory

Sed hoc ego non sentio: intelligo enim illud capitulum quod si feudum datum vassallo evinca- tur, dominus teneatur dare vassallo aliud feudum eque bonum, aut numeret ei nummos

sector in terms of volume and by shipping and aviation in terms of highest growth rates. • Under “business-as-usual”, including many planned efficiency improvements, global

National Research Institute for Earth Science and Disaster Resilience (NIED) has a Large-Scale Earthquake Simulators in