AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
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BackgroundLittle is known about autoimmune liver disease (AILD) in Asian children. We studied the clinical features and… Expand Background: Graft rejection and disease recurrence are well-recognized complications of liver transplantation (LT) for autoimmune… Expand We used the evolutionary analysis of amelogenin (AMEL) in 80 amniotes (52 mammalian and 28 reptilian sequences) to aid in the… Expand A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in… Expand Our aim was to characterize antinuclear antibody (ANA) targets in type 1 autoimmune hepatitis (AIH1) using a proteomic tool. ANA… Expand A hallmark of biological systems is a reliance on protein assemblies to perform complex functions. We have focused attention on… Expand Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development… Expand The AMELX gene located at Xp22.1-p22.3 encodes for the enamel protein amelogenin and has been implicated as the gene responsible… Expand Amelogenesis imperfecta is characterized by the defective formation of tooth enamel. Here we present evidence that the X-linked… Expand