Associated Papers
De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks.
Yamamoto M et al.
Febs Open Bio, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia.
Amico S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D et al.
Molecular Genetics & Genomic Medicine, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.
Parker GJ et al.
Plos One, 2016
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Lin Z et al.
American Journal of Human Genetics, 2012
Building models for keratin disorders.
Koster MI
The Journal of Investigative Dermatology, 2012
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.
Shimomura Y et al.
The Journal of Investigative Dermatology, 2010
A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
Tariq M et al.
Annals of Human Genetics, 2008
Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.
Naeem M et al.
Clinical and Experimental Dermatology, 2007
Hair follicle-specific keratins and their diseases.
Schweizer J et al.
Experimental Cell Research, 2007
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
Naeem M et al.
Journal of Medical Genetics, 2006