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TranscriptomicsHuman induced pluripotent stem cells reveal early developmental molecular correlates with a probable Leber congenital amaurosis type I
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Homo sapiens 
2015-01-21 | E-GEOD-43946 | biostudies-arrayexpress
UnknownNovel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Not available
S-EPMC8232641 | biostudies-literature
UnknownNovel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
Not available
S-EPMC6409913 | biostudies-literature
UnknownA Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
Not available
S-EPMC5937575 | biostudies-literature
TranscriptomicsGlobal gene expression analysis of human iPSC-derived Neural Stem Cells (NSC) from LCA patients and unaffected persons
Our purpose was to investigate genes and molecular mechanisms involved in patients with Leber congenital amaurosis (LCA). Fibroblasts from two unrelated clinically-identified patients (Coriell) were reprogrammed to pluripotency by retroviral transduction. These human induced Pluripotent Stem Cells (...
ORGANISM(S): Homo sapiens 
2015-01-21 | E-GEOD-43924 | biostudies-arrayexpress
TranscriptomicsGlobal gene expression analysis of human iPSC-derived Retinal Pigmented Epithelial (RPE) cells from LCA patients and unaffected persons
Our purpose was to investigate genes and molecular mechanisms involved in patients with Leber congenital amaurosis (LCA). Fibroblasts from two unrelated clinically-identified patients (Coriell) were reprogrammed to pluripotency by retroviral transduction. These human induced Pluripotent Stem Cells (...
ORGANISM(S): Homo sapiens 
2015-01-21 | E-GEOD-43926 | biostudies-arrayexpress
UnknownLarge Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy.
Not available
S-EPMC9223508 | biostudies-literature
UnknownPrevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.
Not available
S-EPMC6829239 | biostudies-literature
ProteomicsFirst identification of ITM2B interactome in the human retina
ITM2B is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive demen...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD020088 | Pride
Ap-ms Human Itm2b Retina Interactome 
UnknownA New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
Not available
S-EPMC8122890 | biostudies-literature
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