CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that
plays a role in transcription regulation by chromatin remodeling. Loss‐of‐function mutations …

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder
caused by the lack of functional type VII collagen, leading to skin fragility and subsequent …

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - PMC Skip to main
content Here's how you know Official websites use .gov A .gov website belongs to an official …

Gene editing constitutes a novel approach for precisely correcting disease-causing gene
mutations. Frameshift mutations in COL7A1 causing recessive dystrophic epidermolysis …

BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable
disease caused by mutations in the gene encoding type VII collagen, the major component …

The drug molecule PTC124 (Ataluren) has been described as a read-through agent,
capable of suppressing premature termination codons (PTCs) and restoring functional …

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe disorder caused by
mutations to the COL7A1 gene that deactivate production of a structural protein essential for …

Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations
in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type …

The mammalian cellular microenvironment is shaped by soluble factors and structural
components, the extracellular matrix, providing physical support, regulating adhesion and …

Dystrophic epidermolysis bullosa is a group of orphan genetic skin diseases dominantly or
recessively inherited, caused by mutations in COL7A1 encoding type VII collagen, which …