[HTML][HTML] Site-1 and site-2 proteases: a team of two in regulated proteolysis

T Danyukova, K Schöneck, S Pohl - Biochimica et Biophysica Acta (BBA) …, 2022 - Elsevier
Abstract The site-1 and site-2 proteases (S1P and S2P) were identified over 20 years ago,
and the functions of both have been addressed in numerous studies ever since. Whereas …

Cholesterol homeostasis: Links to hair follicle biology and hair disorders

MA Palmer, L Blakeborough, M Harries… - Experimental …, 2020 - Wiley Online Library
Lipids and lipid metabolism are critical factors in hair follicle (HF) biology, and cholesterol
has long been suspected of influencing hair growth. Altered cholesterol homeostasis is …

Keratosis pilaris and its subtypes: associations, new molecular and pharmacologic etiologies, and therapeutic options

JF Wang, SJ Orlow - American journal of clinical dermatology, 2018 - Springer
Keratosis pilaris is a common skin disorder comprising less common variants and rare
subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the …

Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects

A Jain, RP Sahu, C Goswami - Biochemical and Biophysical Research …, 2022 - Elsevier
TRPV3, a non-selective cation channel known to be activated by physiological temperature,
is expressed in skin and is involved in different skin functions. Point mutations in TRPV3 …

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

N Caengprasath, T Theerapanon… - Journal of Translational …, 2021 - Springer
The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor
protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several …

[HTML][HTML] Reduced serum high-density lipoprotein cholesterol levels and aberrantly expressed cholesterol metabolism genes in colorectal cancer

JH Tao, XT Wang, W Yuan, JN Chen… - World Journal of …, 2022 - ncbi.nlm.nih.gov
BACKGROUND Colorectal cancer (CRC) is a common malignant tumor of the
gastrointestinal tract. Lipid metabolism, as an important part of material and energy …

Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: two syndromes that share a common clinical spectrum

I Irurzun, MI Natale, ML Agostinelli… - Pediatric …, 2021 - Wiley Online Library
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X‐linked inherited
disease caused by pathogenic variants in the gene encoding the membrane‐bound …

Decay of TRPV3 as the genomic trace of epidermal structure changes in the land‐to‐sea transition of mammals

T Wu, L Deme, Z Zhang, X Huang, S Xu… - Ecology and …, 2022 - Wiley Online Library
The epidermis plays an indispensable barrier function in animals. Some species have
evolved unique epidermal structures to adapt to different environments. Aquatic and semi …

An intronic splice‐site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome

G Chen, M Wang, P Wang… - The Journal of …, 2023 - Wiley Online Library
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome is a rare
genodermatosis characterized by a classic triad of follicular ichthyosis, alopecia, and …

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

Y Jiang, H Jin, Y Zeng - Molecular Genetics & Genomic …, 2019 - Wiley Online Library
Background The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare
X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis …