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ProteomicsHBS1L-deficient retinal proteomics analysis revealing critical role of ribosomal rescue factor in the photoreceptor cell development
Inherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual impairment. A handful of ribosome-associated genes have been implicated in retinal diso...
ORGANISM(S): Mus musculus (Mouse) 
2024-07-25 | PXD045660 | Pride
Hbs1l Retinal degeneration Ribosomal rescue 
GenomicsMammalian Hbs1L deficiency causes Pelota depletion and is associated with a unique phenotype
Mammalian Hbs1L deficiency causes Pelota depletion and is associated with a unique phenotype
PRJNA509230 | ENA
TranscriptomicsMammalian Hbs1L deficiency causes Pelota depletion and is associated with a unique phenotype
Hbs1 has been established as a central component of the cell’s translational quality control pathways in both yeast and prokaryotic models; however, the functional characteristics of its human ortholog (Hbs1L) have not been well-defined. We recently reported a novel human phenotype resulting from a ...
ORGANISM(S): Homo sapiens 
2019-01-15 | GSE123564 | GEO
UnknownHBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.
Not available
S-EPMC3973089 | biostudies-literature
UnknownDetection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.
Not available
S-EPMC7573094 | biostudies-literature
UnknownMammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
Not available
S-EPMC6373978 | biostudies-literature
GenomicsHBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers
Genetic studies have identified common variants within the HBS1L-MYB intergenic region on chromosome 6q associated with elevated fetal hemoglobin (HbF) levels and other clinically important human erythroid traits. The mechanism by which the non-coding sequence variants affect these traits is still n...
ORGANISM(S): Homo sapiens 
2014-07-24 | GSE52637 | GEO
UnknownInduction of fetal hemoglobin: Lentiviral shRNA knockdown of HBS1L in β0-thalassemia/HbE erythroid cells
Not available
S-EPMC9994754 | biostudies-literature
UnknownIntergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
Not available
S-EPMC2040901 | biostudies-literature
UnknownGenotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
Not available
S-EPMC3922441 | biostudies-literature
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