507 results on '"Pavan, William J."'
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2. Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice
3. Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
4. The RhoJ-BAD signaling network: An Achilles' heel for BRAF mutant melanomas.
5. Melanoma to Vitiligo: The Melanocyte in Biology & Medicine–Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting
6. The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color
7. Strategic vision for improving human health at The Forefront of Genomics
8. The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
9. Single‐cell profiling of MC1R‐inhibited melanocytes.
10. Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
11. Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
12. Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
13. Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
14. Loci associated with skin pigmentation identified in African populations
15. SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
16. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
17. Mutation of Melanosome Protein RAB38 in chocolate Mice
18. cDNA Microarrays Detect Activation of a Myogenic Transcription Program by the PAX3-FKHR Fusion Oncogene
19. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
20. Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
21. Substantial Narrowing of the Niemann-Pick C Candidate Interval by Yeast Artificial Chromosome Complementation
22. Data from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
23. Supplementary Figure 4 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
24. Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition
25. MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells
26. Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations
27. Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defence
28. Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes
29. The Genetic Regulation of Pigment Cell Development
30. The Origin and Development of Neural Crest-Derived Melanocytes
31. Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1
32. Expanded Analysis of Pigmentation Genetics in UK Biobank
33. Interspecies Difference in the Regulation of Melanocyte Development by SOX10 and MITF
34. Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes
35. Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice
36. Ectopic differentiation of melanocyte stem cells is influenced by genetic background
37. Generation of Deletion Derivatives by Targeted Transformation of Human-Derived Yeast Artificial Chromosomes
38. Piebald Lethal (s l ) Acts Early to Disrupt the Development of Neural Crest-Derived Melanocytes
39. How a membrane transporter keeps melanocytes in the red
40. Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
41. Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A
42. Axing the cancer loop
43. A Unique Missense Allele of BAF155, a Core BAF Chromatin Remodeling Complex Protein, Causes Neural Tube Closure Defects in Mice
44. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
45. The importance of having your SOX on: role of SOX10† in the development of neural crest-derived melanocytes and glia
46. Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1
47. Postnatal lineage mapping of follicular melanocytes with the Tyr::CreERT2 transgene
48. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3
49. Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1
50. Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and human
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