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Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA; NISC Comparative Sequencing Program; Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ. Rodriguez-Gil JL, et al. Among authors: pavan wj. Hum Mol Genet. 2021 Nov 30;30(24):2456-2468. doi: 10.1093/hmg/ddab194. Hum Mol Genet. 2021. PMID: 34296265 Free PMC article.
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. Carstea ED, et al. Among authors: pavan wj. Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228. Science. 1997. PMID: 9211849
Mutation of melanosome protein RAB38 in chocolate mice.
Loftus SK, Larson DM, Baxter LL, Antonellis A, Chen Y, Wu X, Jiang Y, Bittner M, Hammer JA 3rd, Pavan WJ. Loftus SK, et al. Among authors: pavan wj. Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4471-6. doi: 10.1073/pnas.072087599. Epub 2002 Mar 26. Proc Natl Acad Sci U S A. 2002. PMID: 11917121 Free PMC article.
Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia.
Pollock PM, Cohen-Solal K, Sood R, Namkoong J, Martino JJ, Koganti A, Zhu H, Robbins C, Makalowska I, Shin SS, Marin Y, Roberts KG, Yudt LM, Chen A, Cheng J, Incao A, Pinkett HW, Graham CL, Dunn K, Crespo-Carbone SM, Mackason KR, Ryan KB, Sinsimer D, Goydos J, Reuhl KR, Eckhaus M, Meltzer PS, Pavan WJ, Trent JM, Chen S. Pollock PM, et al. Among authors: pavan wj. Nat Genet. 2003 May;34(1):108-12. doi: 10.1038/ng1148. Nat Genet. 2003. PMID: 12704387
154 results