Associated Papers
A Japanese case of Vörner-type palmoplantar keratoderma caused by a novel KRT1 variant.
Nakamizo S et al.
The Journal of Dermatology, 2023
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.
Ying Y et al.
Human Genomics, 2020
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Diociaiuti A et al.
International Journal of Molecular Sciences, 2020
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
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
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
Guo Y et al.
Genetics and Molecular Research : Gmr, 2014
Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
Liu XP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].
Li W et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2007
[Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris].
Hu ZM et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007
[Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR].
Wu YL et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2007
[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].
Xie ZG et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect].
Xu W et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2005
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
Sun X et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2005
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma].
Zhang BR et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].
Hu ZM et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004