The molecular genetics of keratin disorders

FJD Smith - American journal of clinical dermatology, 2003 - Springer
Keratins are the type I and II intermediate filament proteins which form a cytoskeletal network
within all epithelial cells. They are expressed in pairs in a tissue-and differentiation-specific …

Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis.

E Fuchs, P Coulombe, J Cheng… - Journal of …, 1994 - search.ebscohost.com
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene
sequences, appreciating the switch in keratin gene expression that takes place as epidermal …

The keratins and their disorders

EL Rugg, IM Leigh - American Journal of Medical Genetics Part …, 2004 - Wiley Online Library
Diseases caused by mutations in gene encoding keratin intermediate filaments (IF) are
characterized by a loss of structural integrity in the cells expressing those keratins in vivo …

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation

AD Irvine, WHI McLean - British Journal of Dermatology, 1999 - academic.oup.com
Keratins are obligate heterodimer proteins that form the intermediate filament cytoskeleton of
all epithelial cells. Keratins are tissue and differentiation specific and are expressed in pairs …

A human keratin 14" knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.

Y Chan, I Anton-Lamprecht, QC Yu… - Genes & …, 1994 - genesdev.cshlp.org
Since their discovery, the function of intermediate filaments (IFs) has remained obscure. In
skin, epidermal cells have extensive cytoskeletal architectures of IFs, composed of type I and …

Human keratin diseases: hereditary fragility of specific epithelial tissues.

LD Cordden, WH McLean - Experimental dermatology, 1996 - search.ebscohost.com
Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in
epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a …

Keratins and disease at a glance

RL Haines, EB Lane - Journal of cell science, 2012 - journals.biologists.com
Keratins are cytoskeletal filament-forming proteins found in skin and other epithelial (sheet)
tissues (Table 1). Keratins (type I and II), and other highly related (types III–VI) intermediate …

Keratin gene mutations in disorders of human skin and its appendages

JC Chamcheu, IA Siddiqui, DN Syed… - Archives of biochemistry …, 2011 - Elsevier
Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal
scaffolding proteins that form intermediate filament networks, providing structural support to …

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex

Y Chan, QC Yu, J LeBlanc-Straceski… - Journal of cell …, 1994 - journals.biologists.com
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene
sequences, appreciating the switch in keratin gene expression that takes place as epidermal …

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament …

K Yasukawa, D Sawamura, JR McMillan… - Journal of Biological …, 2002 - ASBMB
Keratin intermediate filaments are important cytoskeletal structural proteins involved in
maintaining cell shape and function. Mutations in the epidermal keratin genes, keratin 5 or …