research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
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5 / 44 results 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 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 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 Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
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