Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
BEFREE |
Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis.
|
10232400 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that mutations in keratin 16 (K16) cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone.
|
10839714 |
2000 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
|
10606845 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
BEFREE |
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
|
10521820 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK).
|
22668561 |
2013 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17) featuring painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis, and often oral leukokeratosis.
|
31777952 |
2020 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Seven patients with PC in the IPCRR were confirmed to have transgrediens lesions on the dorsal feet (six KRT6A mutations; one KRT16 mutation).
|
21790523 |
2012 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic differences between patients with KRT6A and KRT16 mutations support adoption of a new classification system based on the mutant gene (PC-6a, PC-16) rather than the PC-1 nomenclature.
|
22098151 |
2012 |
Pachyonychia Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
We reviewed the relevant literature with a particular focus on the Krt16 null mouse, which spontaneously develops footpad lesions that mimic several aspects of PC-associated PPK.
|
31021398 |
2020 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
|
24118415 |
2013 |
Pachyonychia Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results uncover a role for Krt16 in regulating epithelial inflammation that is relevant to genodermatoses, psoriasis, and cancer and suggest a avenue for the therapeutic management of PC and related disorders.
|
24218583 |
2013 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
|
11359398 |
2001 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
|
30859684 |
2019 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This observation suggests that coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.
|
19785597 |
2009 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17).
|
31823354 |
2020 |
Pachyonychia Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC.
|
30307612 |
2019 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair.
|
29406601 |
2018 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations at the KRT16 locus can cause pachyonychia congenita (PC, OMIM:167200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613000), which each entail painful calluses on palmar and plantar skin.
|
31220272 |
2019 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study extends the KRT16 mutation spectrum and adds new information on the clinical and genetic diversity of PC.
|
24357266 |
2014 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The patient's clinical presentation and history were consistent with pachyonychia congenita (PC), an autosomal dominant genodermatosis caused by mutations in the genes for keratin 6, K6a and K6b; keratin 16, K16; and keratin 17, K17.
|
20099620 |
2009 |
Pachyonychia Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients.
|
27183391 |
2016 |
Pachyonychia Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mice genetically null for keratin 16 (Krt16), one of the genes mutated in pachyonychia congenita, develop pachyonychia congenita-like PPK.
|
29277538 |
2018 |
Keratoderma, Palmoplantar, Diffuse
|
0.240 |
GeneticVariation
|
disease |
BEFREE |
Moreover, a genetic locus for hereditary focal non-epidermolytic palmoplantar keratoderma, a condition associated with cancer of the esophagus (TOC; Tylosis with Oesophageal Cancer), lies in the same region.
|
11346464 |
2001 |
Keratoderma, Palmoplantar, Diffuse
|
0.240 |
GeneticVariation
|
disease |
BEFREE |
Tylosis (focal non-epidermolytic palmoplantar keratoderma; NEPPK) is associated with esophageal cancer in three families, two of which contain six or seven generations.
|
10631907 |
1999 |
Keratoderma, Palmoplantar, Diffuse
|
0.240 |
GeneticVariation
|
disease |
BEFREE |
Moreover, a locus responsible for hereditary focal non-epidermolytic palmoplantar keratoderma (tylosis oesophageal cancer; TOC), a condition associated with esophageal cancer, has been mapped to the same band.
|
12691822 |
2003 |