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TranscriptomicsPatients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic skin disorders caused by mutations in any of >10 different genes, many of which are involved in epidermal synthesis of ω-O-acylceramides (acylCer), an essential precursor of the corneocyte lipid envelope that is a...
ORGANISM(S): Homo sapiens 
2018-11-30 | GSE107462 | GEO
ProteomicsNon-viral in situ gene editing effectively and safely rescues congenital ichthyosis-causing mutations in human skin
Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare, highly debilitating skin disorders which significantly impair patients’ quality of life and lack any effective treatment options. Here, we report clinically-relevant in situ correction of the most common ARCI-causing mutati...
ORGANISM(S): Homo sapiens (Human) 
2026-01-23 | PXD072230 | Pride
Arci  autosomal recessive congenital ichthyosis  skin  tgm1  tissue 
GenomicsPatients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?
Patients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?
PRJNA420190 | ENA
UnknownAutomatic Removal of Cardiac Interference (ARCI): A New Approach for EEG Data.
Not available
S-EPMC6517508 | biostudies-literature
UnknownInforming the development of diagnostic criteria for differential diagnosis of alcohol-related cognitive impairment (ARCI) among heavy drinkers: A systematic scoping review.
Not available
S-EPMC9907814 | biostudies-literature
UnknownNovel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Not available
S-EPMC7028276 | biostudies-literature
UnknownPatients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
Not available
S-EPMC7379499 | biostudies-literature
UnknownA High‐Energy Density Li‐Ion Hybrid Capacitor Fabricated from Bio‐Waste Derived Carbon Nanosheets Cathode and Graphite Anode
Not available
S-EPMC9581786 | biostudies-literature
UnknownIntra-source provenance study on Monte Arci (Sardinia) obsidian by pXRF: Role of the data acquisition and analysis tools.
Not available
S-EPMC10006479 | biostudies-literature
TranscriptomicsThe effects of TGM1 Mutations in HEK293T and HaCaT cells
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare inherited skin disorders characterized by remarkable hyperkeratosis. Transglutaminase 1 (TGM1) mutations have been reported to be involved in four different phenotypes of ARCI, including lamellar ichthyosis (LI), non-bullous congeni...
ORGANISM(S): Homo sapiens 
2015-12-31 | E-GEOD-70859 | biostudies-arrayexpress
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