No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 292-

  Payne, Aimee S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 3; UNCLASSIFIED DRUG;

BLISTER; CELL ADHESION; CLINICAL FEATURE; DARIER DISEASE; DISEASE ASSOCIATION; EPIDERMIS CELL; GENE DELETION; GENE MUTATION; HAIR FOLLICLE; HEREDITY; HISTOLOGY; HUMAN; HYPOTRICHOSIS; KERATOSIS; KERATOSIS PILARIS; LETTER; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SKIN BIOPSY; SKIN DISEASE;

ANIMALS; BLISTER; CODON, NONSENSE; DESMOCOLLINS; HUMANS; MEMBRANE GLYCOPROTEINS; MICE; MUTATION; REPRODUCIBILITY OF RESULTS; SKIN;

EID: 76049106935     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.09.021     Document Type: Letter

References (3)

1. Ayub M., Basit S., Jelani M., Ur Rehman F., Iqbal M., Yasinzai M., and Ahmad W. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am. J. Hum. Genet. 85 (2009) 515-520
2. Chidgey M., Brakebusch C., Gustafsson E., Cruchley A., Hail C., Kirk S., Merritt A., North A., Tselepis C., Hewitt J., et al. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J. Cell Biol. 155 (2001) 821-832
3. Cheng X., Mihindukulasuriya K., Den Z., Kowalczyk A.P., Calkins C.C., Ishiko A., Shimizu A., and Koch P.J. Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol. Cell. Biol. 24 (2004) 154-163