A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle. [PDF]
PLoS ONE, 2012 We identified a congenital mechanobullous skin disorder in six calves on a single farm of an endangered German cattle breed in 2010. The condition presented as a large loss of skin distal to the fetlocks and at the mucosa of the muzzle.
Annie Menoud +4 more
doaj +6 more sources
Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease
HeliyonTo identify candidate pathogenic genes of early-stage Crohn's disease (CD) and predict potential roles of genetic factors in CD, we performed whole exome sequencing on a child with early-stage Crohn's disease (CD) and her parents (core family), found ...
Qiang Zhang +6 more
doaj +4 more sources
BMC Cancer, 2018 Background As hybrid RNAs, transcription-induced chimeras (TICs) may have tumor-promoting properties, and some specific chimeras have become important diagnostic markers and therapeutic targets for cancer.
Ye Tao +8 more
doaj +2 more sources
A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa [PDF]
Genes, 2020 We investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa (EB), a group of genetic blistering diseases. A clinically normal bitch was bred to her grandfather by artificial insemination. Out of a litter of seven puppies, two affected puppies died and one was euthanized, with these puppies being submitted ...
Teresa Maria Garcia +4 more
openaire +4 more sources
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa [PDF]
BMC Medical GenomicsDystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120).
Saira Sattar +6 more
doaj +4 more sources
COL7A1 mutation G2037E causes epidermal retention of type VII collagen [PDF]
Journal of Human Genetics, 2006 COL7A1 glycine substitution (GS) mutations result in dominant and recessive dystrophic epidermolysis bullosa (DDEB and RDEB). Here, we report a DDEB family in which retention of type VII collagen by epidermal keratinocytes was observed for a female proband. Mutational analysis detected a GS mutation, G2037E, in the proband and her affected father.
Sawamura, Daisuke +9 more
openaire +5 more sources
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair [PDF]
Molecular Therapy: Nucleic Acids, 2018 Recessive dystrophic epidermolysis bullosa is a rare and severe genetic skin disease resulting in blistering of the skin and mucosa. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a wide variety of mutations in COL7A1-encoding type VII ...
Araksya Izmiryan +5 more
doaj +2 more sources
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
Human Genome Variation, 2023 Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring.
Yo Niida +3 more
doaj +3 more sources
A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair
Molecular Therapy: Nucleic Acids, 2016 RNA trans-splicing represents an auspicious option for the correction of genetic mutations at RNA level. Mutations within COL7A1 causing strong reduction or absence of type VII collagen are associated with the severe skin blistering disease dystrophic ...
Patricia Peking +10 more
doaj +2 more sources
Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination [PDF]
Molecular Therapy: Nucleic Acids, 2019 Current gene-editing approaches for treatment of recessive dystrophic epidermolysis bullosa (RDEB), an inherited, severe form of blistering skin disease, suffer from low efficiencies and safety concerns that complicate implementation in clinical settings.
Thomas Kocher +7 more
doaj +3 more sources