Disease: Hyperkeratosis palmoplantar localized epidermolytic
- A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1
- A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus
- A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK)
- Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma
- Building models for keratin disorders
- Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
- Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)
- Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease
- Diagnosis and Management of Inherited Palmoplantar Keratodermas
- Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression
- Epidermolytic alterations in focal palmoplantar and gingival keratosis
- Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene
- Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins
- Focal palmoplantar and oral mucosa hyperkeratosis syndrome
- Focal palmoplantar keratoderma with epidermolytic degeneration
- Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity
- Hereditary epidermolytic palmoplantar keratoderma
- Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders
- How do keratinizing disorders and blistering disorders overlap?
- Human keratin diseases: hereditary fragility of specific epithelial tissues
- Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation
- Intractable skin disorders treated with the aromatic retinoid etretinate (Tigason). Two and a half years' experience in the Transvaal
- Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
- Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma
- Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis
- Keratosis palmoplantaris nummularis ("hereditary painful callosities"). Clinical and histopathologic aspects
- Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole
- Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
- Localized non-epidermolytic keratoderma
- Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma
- Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis
- Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma
- Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene
- Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
- Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds
- Palmoplantar keratosis
- Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus
- Presentation of epidermolytic acanthomas as multiple tan papules on the vulva
- The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13
- The molecular basis for inherited bullous diseases
- The tylosis esophageal cancer (TOC) locus: more than just a familial cancer gene
- Uncommon Endoscopic Findings in a Tylosis Patient: A Case Report
- Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations
- Vorner keratosis palmoplantaris diffusa. Clinical, formal genetic and molecular biology studies of 22 families