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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.
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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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Racial discrimination and child and adolescent health in longitudinal studies: A systematic reviewThis review emphasises the need to gain evidence for the mechanisms linking early racism exposure to adverse health outcomes in later life
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Timeliness of signal detection for adverse events following influenza vaccination in young children: a simulation case studyActive vaccine safety surveillance leading to rapid detection of a safety signal would likely have resulted in earlier suspension of Fluvax from the vaccination programme
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Living liveable? RESIDE's evaluation of the “Liveable Neighborhoods” planning policy on the health supportive behaviors and wellbeing of residents in PerthNew suburban communities built in accordance with the “Liveable Neighbourhoods” policy have the potential to encourage health supportive behaviors
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The influence of the early childhood education and care environment on young children’s physical activityThe PLAYCE Study instruments provide reliable measures of early childhood education and care physical activity environments
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The Impact of Externally Worn Diabetes Technology on Sexual Behavior and Activity, Body Image, and Anxiety in Type 1 DiabetesWearable technologies impact upon sexual activity and this influences the decision to adopt the technology
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Cochrane corner: Sound therapy (using amplification devices and/or sound generators) for tinnitusThis Cochrane review shows that both hearing aids and sound generators may be beneficial for reducing tinnitus severity in some patients
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Blocking Notch3 Signaling Abolishes MUC5AC Production in Airway Epithelial Cells from AsthmaticsWe demonstrate that NOTCH3 is a regulator of MUC5AC production
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Longitudinal trajectories of BMI z-score: an international comparison of 11,513 Australian, American and German/Austrian/Luxembourgian youth with type 1 diabetesThis multinational study presents unique body mass index z score trajectories in youth with type 1 diabetes across three continents