| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| Although we did not detect K 16 or K 17 mutations in PC families from Slovenia , we have found a heterozygous deletion in a K 6 isoform ( K6a ) in the affected members of one family . ^^^ This is the first K6a mutation to be described and this heterozygous K6a deletion is sufficient to explain the pathology observed in this PC 1 family . . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| It has been shown previously that mutations in either K 16 or K6a , which form a keratin expression pair , produce the PC 1 variant ( MIM 184510 ) . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| By mutational analysis keratin K6a and K 16 gene mutations have been detected in patients with PC type 1 , and keratin K6b and K 17 gene mutations have been shown to be the underlying genetic defect in patients with PC type II . . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| The PC 1 phenotype may be distinguished by the absence of the epidermal cysts found in PC 2 , and it has been shown to be caused by mutations in either keratin K 16 or its expression partner , the K6a isoform of K 6 . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| In this report , we describe a case with overlapping clinical features of PC 1 and PC 2 in which a mutation in K6a was identified . . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : To analyze the KRT6A gene mutation and mutating patterns in a sporadic Chinese patient with Pachyonychia congenita ( PC ) 1 so as to provide a basis for gene diagnosis and genetic counseling of this disorder . ^^^ CONCLUSIONS : A de novo missense mutation in the KRT6A gene , I462S , has been found in a sporadic PC 1 patient . ^^^ The identification of this novel mutation in the KRT6A gene provides further evidence that mutation in the KRT6A gene causes PC 1 phenotype . . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| Pathogenic mutations in keratins K6a or K 16 are associated with the PC 1 phenotype whereas K6b and K 17 mutations are associated with the PC 2 phenotype . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| Four keratin genes are associated with the major subtypes of PC : K6a or K 16 defects cause PC 1 ; and mutations in K6b or K 17 cause PC 2 . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| The major clinical variants of the disorder ( PC 1 and PC 2 ) are known to be caused by dominant negative mutations in one of four differentiation specific keratins : K6a , K6b , K 16 , and K 17 . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| Here , we review the existing mouse models involving the keratin genes ( K6a , K6b , K 16 , and K 17 ) that cause the human genetic disorder pachyonychia congenita ( PC ) . ^^^ |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q04695 and P02538 |
Pubmed |
SVM Score :0.0 |
| NA |
|