The human keratins: biology and pathology

R Moll, M Divo, L Langbein - Histochemistry and cell biology, 2008 - Springer
The keratins are the typical intermediate filament proteins of epithelia, showing an
outstanding degree of molecular diversity. Heteropolymeric filaments are formed by pairing …

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 …

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

MB Omary - The Journal of clinical investigation, 2009 - Am Soc Clin Investig
Intermediate filaments (IFs) are encoded by the largest gene family among the three major
cytoskeletal protein groups. Unique IF compliments are expressed in selective cell types …

Hair follicle-specific keratins and their diseases

J Schweizer, L Langbein, MA Rogers… - Experimental cell research, 2007 - Elsevier
The human keratin family comprises 54 members, 28 type I and 26 type II. Out of the 28 type
I keratins, 17 are epithelial and 11 are hair keratins. Similarly, the 26 type II members …

Keratin disorders: from gene to therapy

WHI McLean, CBT Moore - Human molecular genetics, 2011 - academic.oup.com
The term 'keratin'is generally accepted to refer to the epithelial keratins of soft and hard
epithelial tissues such as: skin, cornea, hair and nail. Since their initial characterization, the …

Biology and genetics of hair

Y Shimomura, AM Christiano - Annual review of genomics and …, 2010 - annualreviews.org
The mammalian hair follicle (HF) is a complex structure composed of several distinct cell
layers. The HF is an ectodermal appendage that resides in the skin, and unlike other tissues …

To grow or not to grow: hair morphogenesis and human genetic hair disorders

O Duverger, MI Morasso - Seminars in cell & developmental biology, 2014 - Elsevier
Mouse models have greatly helped in elucidating the molecular mechanisms involved in
hair formation and regeneration. Recent publications have reviewed the genes involved in …

The molecular basis of human keratin disorders

MJ Arin - Human genetics, 2009 - Springer
Keratins are cytoskeletal proteins that provide structural support to epithelial cells and
tissues. Perturbation causes cell and tissue fragility and accounts for a large number of …

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

Z Lin, Q Chen, L Shi, M Lee, KA Giehl, Z Tang… - The American Journal of …, 2012 - cell.com
Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by
hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been …

A nonsense variant in KRT31 is associated with autosomal dominant monilethrix

X Xiong, N Cesarato, Y Gossmann… - British Journal of …, 2024 - academic.oup.com
Background Monilethrix is a rare hereditary hair disorder that is characterized by a beaded
hair shaft structure and increased hair fragility. Patients may also present with keratosis …