<div><p>Epidermolysis Bullosa (EB) encompasses a spectrum of mechanobullous disorders caused by rare mutations that result in structural weakening of the skin and mucous membranes. While gene mutated and types of mutations present are broadly predictive of the range of disease to be expected, a remarkable amount of phenotypic variability remains unaccounted for in all but the most deleterious cases. This unexplained variance raises the possibility of genetic modifier effects. We tested this hypothesis using a mouse model that recapitulates a non-Herlitz form of junctional EB (JEB) owing to the hypomorphic <i>jeb</i> allele of laminin gamma 2 (<i>Lamc2</i>). By varying normally asymptomatic background genetics, we document the potent impact ...
Non-sense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encod...
SummaryJunctional epidermolysis bullosa (JEB) is a clinically and biologically heterogeneous genoder...
Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the three genes (LAMA3, LAM...
Epidermolysis Bullosa (EB) encompasses a spectrum of mechanobullous disorders caused by rare mutatio...
Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterized by fragi...
Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterized by fragi...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Junctional forms of epidermolysis bullosa (JEB) are associated with mutations in six distinct genes ...
SummaryJunctional epidermolysis bullosa (JEB), a genetically heterogeneous group of blistering skin ...
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into thr...
Genetic, clinical, and biochemical studies have shown that integrity of the dermal-epidermal junctio...
© 2021 Blake Robert Cordingley SmithEpidermolysis bullosa (EB) is a group of genetic blistering diso...
Non-sense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encod...
SummaryJunctional epidermolysis bullosa (JEB) is a clinically and biologically heterogeneous genoder...
Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the three genes (LAMA3, LAM...
Epidermolysis Bullosa (EB) encompasses a spectrum of mechanobullous disorders caused by rare mutatio...
Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterized by fragi...
Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterized by fragi...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional...
Junctional forms of epidermolysis bullosa (JEB) are associated with mutations in six distinct genes ...
SummaryJunctional epidermolysis bullosa (JEB), a genetically heterogeneous group of blistering skin ...
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into thr...
Genetic, clinical, and biochemical studies have shown that integrity of the dermal-epidermal junctio...
© 2021 Blake Robert Cordingley SmithEpidermolysis bullosa (EB) is a group of genetic blistering diso...
Non-sense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encod...
SummaryJunctional epidermolysis bullosa (JEB) is a clinically and biologically heterogeneous genoder...
Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the three genes (LAMA3, LAM...