In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 27421141)

Published in Oncotarget on August 16, 2016

Authors

Santasree Banerjee1,2, Qian Wu1, Yuyi Ying1, Yanni Li1, Matsuyuki Shirota3, Dante Neculai1, Chen Li1

Author Affiliations

1: Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.
2: BGI-Shenzhen, Shenzhen, China.
3: Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan.

Articles cited by this

UCSF Chimera--a visualization system for exploratory research and analysis. J Comput Chem (2004) 112.47

SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics (2006) 21.54

LIGPLOT: a program to generate schematic diagrams of protein-ligand interactions. Protein Eng (1995) 19.22

Conserved structures and diversity of functions of RNA-binding proteins. Science (1994) 14.75

Main-chain bond lengths and bond angles in protein structures. J Mol Biol (1993) 9.80

VADAR: a web server for quantitative evaluation of protein structure quality. Nucleic Acids Res (2003) 3.95

Themes in RNA-protein recognition. J Mol Biol (1999) 3.69

PANTHER version 10: expanded protein families and functions, and analysis tools. Nucleic Acids Res (2015) 3.35

New consensus nomenclature for mammalian keratins. J Cell Biol (2006) 3.27

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (2010) 2.21

An unexpected role for keratin 10 end domains in susceptibility to skin cancer. J Cell Sci (2006) 1.64

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach. Nucleic Acids Res (2014) 1.64

SPACE: a suite of tools for protein structure prediction and analysis based on complementarity and environment. Nucleic Acids Res (2005) 1.57

The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem (1990) 1.44

ESBRI: a web server for evaluating salt bridges in proteins. Bioinformation (2008) 1.26

The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences. J Biol Chem (1988) 1.12

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. Br J Dermatol (2011) 1.07

Palmoplantar keratodermas. Clin Dermatol (2005) 1.02

HOMCOS: a server to predict interacting protein pairs and interacting sites by homology modeling of complex structures. Nucleic Acids Res (2008) 0.96

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet (1999) 0.87

Amino acid requirement for the high affinity binding of a selected arginine-rich peptide with the HIV Rev-response element RNA. J Pept Sci (2008) 0.85

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Br J Dermatol (2004) 0.82

Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. J Invest Dermatol (2010) 0.82

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. J Invest Dermatol (2006) 0.81

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. Br J Dermatol (2011) 0.81

A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol (1999) 0.80

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation. Mol Biosyst (2014) 0.80

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. Br J Dermatol (2010) 0.79

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis. J Invest Dermatol (2015) 0.79

Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. Exp Dermatol (2000) 0.78

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules. Br J Dermatol (2008) 0.78

A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1). Int J Dermatol (2012) 0.77