Associated Papers
Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
Huang TL et al.
International Journal of Biological Macromolecules, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Crystal Structure of Keratin 1/10(C401A) 2B Heterodimer Demonstrates a Proclivity for the C-Terminus of Helix 2B to Form Higher Order Molecular Contacts.
Lomakin IB et al.
The Yale Journal of Biology and Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
Human keratin 1/10-1B tetramer structures reveal a knob-pocket mechanism in intermediate filament assembly.
Eldirany SA et al.
The Embo Journal, 2019
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.
Khan S et al.
The British Journal of Dermatology, 2010
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 and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
Grimberg G et al.
The British Journal of Dermatology, 2009
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
Zhao JJ et al.
International Journal of Dermatology, 2008
[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
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
Terron-Kwiatkowski A et al.
The Journal of Investigative Dermatology, 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