Disease: Palmoplantar keratoderma- epidermolytic
- <em>De Novo</em> Mutation in <em>KRT1</em> Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus
- A case of Carvajal syndrome presenting with dilated cardiomyopathy
- A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma
- A family of Unna-Thost disease with one of them showing findings of epidermolytic keratoderma
- A Family with Palmar and Plantar Hyperkeratosis: A Quiz
- A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma
- A Japanese case of Vorner-type palmoplantar keratoderma caused by a novel KRT1 variant
- A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis
- A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma
- A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma
- A novel mutation resulting in keratin 1-linked palmoplantar keratoderma with epidermolytic ichthyosis
- A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly
- A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis
- A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis
- A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review
- A role for aquaporin-5 mutations in regulation of the actin cytoskeleton in non-epidermolytic palmoplantar keratoderma
- A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma
- A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy
- A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK)
- A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis
- Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma
- An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma
- Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma
- Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review
- Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity
- Annular epidermolytic ichthyosis: a case report and literature review
- Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation
- Asymptomatic leucoplakia of the prepuce
- Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings
- Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
- Building models for keratin disorders
- Bullae and psoriasiform hyperkeratosis after treatment with golimumab
- Case for diagnosis. Acrokeratoelastoidosis
- Case no. 7. Bullous dermatosis
- Case of epidermolytic palmoplantar keratoderma with knuckle pads
- Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway
- Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report
- Cohen syndrome combined with novel KRT9 gene mutation leading to epidermolytic palmoplantar keratoderma: A rare case report
- Comparative study of high-resolution multifrequency ultrasound of the plantar skin in patients with various types of hereditary palmoplantar keratoderma
- CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse
- 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
- De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus
- Diagnosis and Management of Inherited Palmoplantar Keratodermas
- Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-)
- Diffuse non-epidermolytic palmoplantar keratoderma
- Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma
- Epidermal nevus
- Epidermolytic Hyperkeratosis
- Epidermolytic Hyperkeratosis
- Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9
- Epidermolytic palmoplantar keratoderma of Vorner
- Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
- Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
- Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation
- Familiar palmoplantar keratoderma, flaccid blisters, and widespread scaling
- Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis
- Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder
- Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
- Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report
- Hereditary tylosis syndrome and esophagus cancer
- How do keratinizing disorders and blistering disorders overlap?
- Human keratin 1/10-1B tetramer structures reveal a knob-pocket mechanism in intermediate filament assembly
- Hyperkeratoses as paraneoplastic syndrome
- Hyperkeratotic hand eczema: Eczema or not?
- Ichthyosis hystrix Curth-Macklin type in an African girl
- Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma
- Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis
- Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma
- Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis
- Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review
- Keratin gene mutations in disorders of human skin and its appendages
- Keratins and skin disease
- KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma
- Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr
- Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain
- Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma
- Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma
- Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families
- Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency
- Non-epidermolytic palmoplantar keratoderma treated with blue LED light
- Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads
- Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma
- Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma
- Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis
- Oral verruciform hyperkeratotic lesions indicating the presence of plantar or palmoplantar keratodermas
- Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
- Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1
- Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9
- Presentation of epidermolytic acanthomas as multiple tan papules on the vulva
- Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders
- Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin
- Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation
- Targeting the palm: a leap forward toward treatment of keratin disorders
- The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes
- The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report
- The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees
- Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population
- Ulnar deviation with massive palmar keratoderma in epidermolytic ichthyosis
- Vorner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation
- Warning: some genetic resource crises we may encounter in the near future: a thought from an EPPK kindred research