The PAD 13 gene "is responsible for mediating the modification of proteins critical for normal hair shaft formation and shaping, such as trichohyalin
, and may also play a role in interfollicular epidermal differentiation," they wrote.
It is characterized by facial keratotic spicules formed by trichohyalin
accumulation in the inner root sheath cells of affected hair follicles.
An infectious aetiology for TS had been suspected since the description of 40-45 nm viral particles with transmission electron microscopy by Haycox (1999) and coworkers within the nuclei of the abnormally matured follicular inner root sheath cells overproducing trichohyalin
Their large, round nuclei have prominent nucleoli and cells contained eosinophilic trichohyalin granules and occasionally also melanosomes in their cytoplasm (Figure 1(b)).
Ultrastructurally, nuclei were becoming amorphous as trichohyalin granules start to accumulate in the cytoplasm (Figure 6(c)).
: presence in the granular layer and stratum corneum of normal human epidermis.
Finding follicular bulbs, papillary mesenchymal bodies, trichohyalin
granules, hair shafts, shadow cells, and focal CD34 staining in adjacent tumor stromal cells all favor benign entities.
At Australia's Queensland Institute of Medical Research, researchers identified the trichohyalin
gene as mainly responsible for creating curls.
Biochemical evidence that the small proline rich proteins and trichohyalin
function in epithelia by modulation of the biochemical properties of their cornified cell envelopes.
The inner root sheath cells are highly proliferative and contain excessive amount of trichohyalin
Professor Nick Martin and Dr Sarah Medland from the Queensland Institute of Medical Research (QIMR) have discovered trichohyalin gene that plays a vital role in development of the hair follicle.
Martin says it was a "Bingo!" moment when the results showed a big hit on chromosome one, right over the trichohyalin gene.