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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Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
research Regulatory T cells modulate bone marrow stromal cell osteogenesis by activating ROCK-myosin axis and cell contractility
Regulatory T cells enhance bone formation by influencing cell mechanics.
research Platelet-Rich Plasma Contains High Concentrations of DKK1, A Potent Inhibitor of Wnt Signaling that Limits Bone Regeneration and Hair Growth
Platelet-rich plasma may not be very effective for bone healing and hair growth due to a substance it contains that blocks these processes.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
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