8 citations,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
August 2022 in “International journal of research in pharmacy and chemistry” Teak is a durable, termite-resistant wood with medicinal benefits.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.