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GenomicsTreatment with cultured epidermal autograft from revertant skin for epidermolytic ichthyosis
Treatment with cultured epidermal autograft from revertant skin for epidermolytic ichthyosis
PRJNA1030286 | ENA
TranscriptomicsTranscription profiling of wild type, GALT-deficient and GALT-deficient-revertant yeast grown on media with galactose or glucose
To better understand the pathophysiology of galactose-1-phosphate uridyltransferase (GALT) deficiency in humans, we studied the mechanisms by which a GALT-deficient yeast survived on galactose medium. Under normal conditions, GALT-deficient yeast cannot grow in medium that contains 0.2% galactose as...
ORGANISM(S): Saccharomyces cerevisiae 
2008-04-10 | E-MEXP-1420 | biostudies-arrayexpress
GenomicsDetection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long read sequencing
Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long read sequencing
PRJNA771681 | ENA
UnknownA "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
Not available
S-EPMC5823395 | biostudies-literature
TranscriptomicsTreatment with cultured epidermal autograft from revertant skin for epidermolytic ichthyosis
We performed clinical trial of treatment with cultured epidermal autograft (CEA) produced from patients’ own revertant epidermal keratinocytes as a proof-of-concept study. We successfully produced CEAs from genetically confirmed revertant skin of the three EI patients and genetically confirmed that ...
ORGANISM(S): Homo sapiens 
2024-05-22 | GSE245859 | GEO
OtherDetection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long read sequencing
Revertant mosaicism (RM) is a phenomenon in which inherited mutations are spontaneously corrected in somatic cells. RM occurs in some congenital skin diseases, although genetic validation of RM in clinically revertant skin has been challenging, especially when homologous recombination (HR) is respon...
ORGANISM(S): Homo sapiens Escherichia coli 
2022-01-13 | GSE186002 | GEO
UnknownSomatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.
Not available
S-EPMC6362306 | biostudies-literature
TranscriptomicsGene expression microarray of: 1) Cbx1 null versus revertant (single allele expression), and 2) Jarid2 null versus revertant, mutant mouse ES cells.
Gene expression as measured by microarray, in order to determine the cohort of differentially expressed genes, in each of two different mutant ES cell lines (Cbx1 and Jarid2), each comparing the respective null mutant ES cells to revertant (single allele expression) mutant ES cells. Hybridization wa...
ORGANISM(S): Mus musculus 
2017-09-12 | E-MTAB-5930 | biostudies-arrayexpress
UnknownRevertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.
Not available
S-EPMC6766431 | biostudies-literature
Genomics
Sequencing of WZY revertant mutants
PRJNA1227906 | ENA
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