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.
Search
forLearn
0 / 0 results — no results
Research
5 / 188 results
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.
research A Novel MBTPS2 Variant Associated With BRESHECK Syndrome Impairs Sterol-Regulated Transcription and the Endoplasmic Reticulum Stress Response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
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 Linking Diet to Acne Metabolomics, Inflammation, and Comedogenesis: An Update
Eating less sugar, milk, and saturated fats and more vegetables and fish may help treat and prevent acne.
Community Join
0 / 0 results — no results