Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain

The Interface between Keratin Structurotype and Human Disease

(2020) Sherif A. Eldirany et al.   STRUCTURE

Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly

(2020) Chang-Hun Lee et al.   STRUCTURE

Human keratin 1/10‐1B tetramer structures reveal a knob‐pocket mechanism in intermediate filament assembly

(2019) Sherif A Eldirany et al.   EMBO JOURNAL

Lateral A11 type tetramerization in lamins

(2019) Anastasia V. Lilina et al.   JOURNAL OF STRUCTURAL BIOLOGY

Structural basis for lamin assembly at the molecular level

(2019) Jinsook Ahn et al.   Nature Communications

A crystal structure of coil 1B of vimentin in the filamentous form provides a model of a high-order assembly of a vimentin filament

(2018) Allan H. Pang et al.   FEBS Journal

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Types I and II Keratin Intermediate Filaments

(2018) Justin T. Jacob et al.   Cold Spring Harbor Perspectives in Biology

Crystal structure of the human glial fibrillary acidic protein 1B domain

(2018) Bitnarae Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

ClinVar at five years: Delivering on the promise

(2018) Melissa J. Landrum et al.   HUMAN MUTATION

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

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

(2017) Christopher G. Bunick et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

(2016) A Hotz et al.   ACTA DERMATO-VENEREOLOGICA

Keratins in health and disease

(2015) Diana M Toivola et al.   CURRENT OPINION IN CELL BIOLOGY

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

(2014) Doroteya Raykova et al.   PLoS One

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

(2013) Jeydith A. Gutierrez et al.   Molecular Genetics & Genomic Medicine

Keratins

(2012) Pavel Strnad et al.   CURRENT OPINION IN GASTROENTEROLOGY

The Structure of Vimentin Linker 1 and Rod 1B Domains Characterized by Site-directed Spin-labeling Electron Paramagnetic Resonance (SDSL-EPR) and X-ray Crystallography

(2012) Atya Aziz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural basis for heteromeric assembly and perinuclear organization of keratin filaments

(2012) Chang-Hun Lee et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Non-Coding Keratin Variants Associate with Liver Fibrosis Progression in Patients with Hemochromatosis

(2012) Pavel Strnad et al.   PLoS One

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex

(2011) M. García et al.   BRITISH JOURNAL OF DERMATOLOGY

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

(2010) Yutaka Shimomura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Keratin gene mutations in disorders of human skin and its appendages

(2010) Jean Christopher Chamcheu et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

(2010) M.C. Bolling et al.   BRITISH JOURNAL OF DERMATOLOGY

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

(2010) Tae-Won Kang et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Keratins in health and cancer: more than mere epithelial cell markers

(2010) V Karantza   ONCOGENE

“IF-pathies”: a broad spectrum of intermediate filament–associated diseases

(2009) M. Bishr Omary   JOURNAL OF CLINICAL INVESTIGATION

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

(2008) G. Grimberg et al.   BRITISH JOURNAL OF DERMATOLOGY

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene,KRT14

(2008) E. Yiasemides et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases

(2007) Ildiko Szeverenyi et al.   HUMAN MUTATION