KEGG   VARIANT: 3858v1
Entry
3858v1                      Variant                                
Name
KRT10 mutation
Type
Loss of function
Gene
KRT10  keratin 10 [KO:K07604]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 148080
Network
nt06545  Cornified envelope formation
Disease
H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
H00707  Ichthyosis hystrix
H00738  Ichthyosis with confetti
H02265  Annular epidermolytic ichthyosis
Reference
PMID:1380725
  Authors
Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR
  Title
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
  Journal
Science 257:1128-30 (1992)
DOI:10.1126/science.257.5073.1128
Reference
PMID:9036939
  Authors
Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR
  Title
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
  Journal
J Invest Dermatol 108:357-61 (1997)
DOI:10.1111/1523-1747.ep12286491
Reference
  Authors
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP
  Title
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
  Journal
Science 330:94-7 (2010)
DOI:10.1126/science.1192280
Reference
PMID:9856845
  Authors
Suga Y, Duncan KO, Heald PW, Roop DR
  Title
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
  Journal
J Invest Dermatol 111:1220-3 (1998)
DOI:10.1046/j.1523-1747.1998.00451.x
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