research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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19 / 19 results research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Apoptotic Cells Represent a Dynamic Stem Cell Niche Governing Proliferation and Tissue Regeneration
Dying cells can help with faster healing and new hair growth by releasing a growth-promoting molecule.
research Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Exome-Wide Age-Of-Onset Analysis Reveals Exonic Variants In ERN1 And SPPL2C Associated With Alzheimer’s Disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Investigation of the Damage on the Outermost Hair Surface Using ToF-SIMS and XPS
Bleaching hair causes significant damage by breaking down proteins and fatty acids.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Bio-Monitoring of Air Quality Using Leaves of Trees and Lichens in Urban Environments
Tree leaves and lichens can effectively indicate air pollution levels in cities.
research Advances in the Chemical Structure of the Hair Surface, Surface Forces and Interactions
Understanding hair surface properties is key for effective hair care products.
research Biomimetics Through Bioconjugation of 16-Methylheptadecanoic Acid to Damaged Hair for Hair Barrier Recovery
16-MHA can restore the barrier and moisture of damaged hair, making it similar to undamaged hair.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Binding Interactions of Keratin-Based Hair Fiber Extract to Gold, Keratin, and BMP-2
Keratin from hair binds well to gold and BMP-2, useful for bone repair.
research Lentiviral Arrays for Live-Cell Dynamic Monitoring of Gene and Pathway Activity During Stem Cell Differentiation
The lentiviral array can monitor and predict gene activity during stem cell differentiation.
research Alcohol and Prostate Cancer: Time to Draw Conclusions
Drinking a lot of alcohol increases the risk of prostate cancer and can worsen the condition.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Atmospheric Pressure Plasma Jet Treatment of Human Hair Fibers
Plasma jet treatments can clean hair and might replace peroxide for hair care.