Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination mapping in BHD families delineated the susceptibility locus to 700 kb on chromosome 17p11.2. Protein-truncating mutations were identified in a novel candidate gene in a panel of BHD families, with a 44% frequency of insertion/deletion mutations within a hypermutable C(8) tract. Tissue expression of the 3.8 kb transcript was widespread, including kidney, lung, and skin. The full-length BHD sequence predicted a novel protein, folliculin, that was highly conserved across species. Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer, will contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development.

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This paper presents an integrative standards-based STEM curriculum that uses robots to develop students' computational thinking. The need for the project is rooted in both the overall lack of existing materials as well as the need for materials that directly address specific STEM standards in an integrative fashion. The paper details the first mesocycle of an educational design research project (EDR) in which a robust theoretical framework was created to support the development of a 2-week series of robotics lessons. Analysis of evaluation data from 5 fifth-grade teachers and their students revealed that the integrative curriculum supported student problem solving and teacher practices that supported cognitive demand. Implications for research, design, and instruction are discussed.

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