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

Autor: Natarin Caengprasath, Thanakorn Theerapanon, Thantrira Porntaveetus, Vorasuk Shotelersuk

Publikováno v: Journal of Translational Medicine, Vol 19, Iss 1, Pp 1-16 (2021)

Abstract 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 signaling and regulatory proteins from the membrane. The MBTPS2 is cri

Externí odkaz: https://doaj.org/article/2cb1e43ef48441afa70ab94f1372e457

Substance P in keratosis follicularis spinulosa decalvans

Autor: Ricardo Romiti, Neusa Yuriko Sakai Valente, Maria K. Hordinsky, George L. Wilcox, Isabella Doche

Publikováno v: JAAD Case Reports

Keratosis follicularis spinulosa decalvans (KFSD) is an inherited rare disorder characterized by diffuse keratosis pilaris and scarring alopecia. Palmoplantar keratoderma, ocular abnormalities, and atopy can also be present.1, 2 Most cases occur in m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa77a8917db31ccefe900dc33738459c
https://doi.org/10.1016/j.jdcr.2015.08.001

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

Autor: Jan C. Oosterwijk, Mjr vanderWielen, Lodewijk A. Sandkuijl, E. van de Vosse, W Harth, Gjb Vanommen, Gabriela Richard, Egbert Bakker

Publikováno v: HUMAN GENETICS, 100(5-6), 520-524. SPRINGER

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes. In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13-p22.2. By analyzing several new markers in this region, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04aa08a44ca4cecc6805d3decbda398
https://doi.org/10.1007/s004390050546

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Keratosis Follicularis Spinulosa Decalvans Associated With Woolly Hair: A Case Report.

Autor: Brashi R; College of Medicine, Umm Al-Qura University, Makkah, SAU., Saleh R; College of Medicine, Umm Al-Qura University, Makkah, SAU., Alsulami EA; College of Medicine, Umm Al-Qura University, Makkah, SAU., Niyazi A; College of Medicine, Umm Al-Qura University, Makkah, SAU., AlSulami M; College of Medicine, Umm Al-Qura University, Makkah, SAU., Al Hawsawi K; Dermatology, King Abdulaziz Hospital, Makkah, SAU.

Publikováno v: Cureus [Cureus] 2024 Jul 29; Vol. 16 (7), pp. e65668. Date of Electronic Publication: 2024 Jul 29 (Print Publication: 2024).