Condition: Adult junctional epidermolysis bullosa (disorder)


rs121912771 in COL17A1 gene and Adult junctional epidermolysis bullosa (disorder) PMID 11912005 2002 A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.

PMID 9199555 1997 Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

PMID 10652291 2000 Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.

PMID 10951237 2000 Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.

PMID 8669466 1996 Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

PMID 19340010 2009 Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications.

PMID 9204958 1997 A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.

PMID 16354180 2005 Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.

PMID 21357940 2011 Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

PMID 9077475 1997 Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 11406649 2001 Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation.

PMID 14614394 2004 A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.

PMID 10636730 1999 Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.

rs762236241 in GALK1;ITGB4 gene and Adult junctional epidermolysis bullosa (disorder) PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

rs121912466 in ITGB4 gene and Adult junctional epidermolysis bullosa (disorder) PMID 10792571 2000 A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

rs121912482 in LAMB3 gene and Adult junctional epidermolysis bullosa (disorder) PMID 9767254 1998 E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.

PMID 17476356 2007 Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

PMID 22931927 2013 Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa.

PMID 11023379 2000 Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.

PMID 23278291 2015 Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.

PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

rs1217053724 in LAMC2 gene and Adult junctional epidermolysis bullosa (disorder) PMID 27696112 2017 Laminin: loss-of-function studies.