[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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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
The epidermis plays an indispensable barrier function in animals. Some species have
evolved unique epidermal structures to adapt to different environments. Aquatic and semi …
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 …
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 …
X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis …