Associated Papers
De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.
Ge M et al.
Dna and Cell Biology, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.
Bunick CG et al.
The Journal of Investigative Dermatology, 2017
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.
Palombo R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
Sung JY et al.
Journal of Dermatological Science, 2013
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.
Sheth N et al.
The British Journal of Dermatology, 2007
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
Uezato H et al.
The Journal of Dermatology, 2005
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Terron-Kwiatkowski A et al.
The British Journal of Dermatology, 2004
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
Terron-Kwiatkowski A et al.
The Journal of Investigative Dermatology, 2002
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Whittock NV et al.
The British Journal of Dermatology, 2001
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Michael EJ et al.
Experimental Dermatology, 1999
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
Sybert VP et al.
American Journal of Human Genetics, 1999
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