| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
nt06545 Cornified envelope formation |
| Disease |
| H00691 | Bullous congenital ichthyosiform erythroderma (BCIE) |
| H00738 | Ichthyosis with confetti |
| H02265 | Annular epidermolytic ichthyosis |
|
| Reference |
|
| 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 |
|
| Reference |
|
| 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 |
|
| 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 |
|
| Reference |
|
| 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 |
|
| LinkDB |
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