William J. Pavan
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View article: Systemic neonatal AAV9 gene therapy delivery improves behavioral and phenotypic outcomes comparable to intracerebroventricular delivery in a mouse model of Niemann-Pick disease, type C1
Systemic neonatal AAV9 gene therapy delivery improves behavioral and phenotypic outcomes comparable to intracerebroventricular delivery in a mouse model of Niemann-Pick disease, type C1 Open
Niemann-Pick disease, type C (NPC), is an inherited fatal lysosomal storage disorder caused by a mutation in the NPC1 or NPC2 genes and characterized by impaired lysosomal cholesterol export. Previous studies have demonstrated that deliver…
View article: Quiescence and aging of melanocyte stem cells and a novel association with programmed death-ligand 1
Quiescence and aging of melanocyte stem cells and a novel association with programmed death-ligand 1 Open
Cellular quiescence is a reversible and tightly regulated stem cell function essential for healthy aging. However, the elements that control quiescence during aging remain poorly defined. Using melanocyte stem cells (McSCs), we find that s…
View article: Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice Open
Niemann-Pick disease, type C1 (NPC1) is a rare, fatal neurodegenerative disorder caused by pathological variants in NPC1 , which encodes a lysosomal cholesterol transport protein. There are no FDA approved treatments for this disorder. Bot…
View article: Single‐cell profiling of <scp>MC1R</scp>‐inhibited melanocytes
Single‐cell profiling of <span>MC1R</span>‐inhibited melanocytes Open
The human red hair color (RHC) trait is caused by increased pheomelanin (red‐yellow) and reduced eumelanin (black‐brown) pigment in skin and hair due to diminished melanocortin 1 receptor (MC1R) function. In addition, individuals harboring…
View article: The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color
The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color Open
MFSD12 functions as a transmembrane protein required for import of cysteine into melanosomes and lysosomes. The MFSD12 locus has been associated with phenotypic variation in skin color across African, Latin American, and East Asian populat…
View article: Inbred SJL mice recapitulate human resistance to <i>Cryptococcus</i> infection due to differential immune activation
Inbred SJL mice recapitulate human resistance to <i>Cryptococcus</i> infection due to differential immune activation Open
Cryptococcosis remains a significant threat to human health. While the popular C57BL/6J mouse model of cryptococcosis has some advantages, there are some serious shortcomings that limit the ability of researchers to address the disease. Si…
View article: Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
View article: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Author Response: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B Open
View article: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Reviewer #2 (Public Review): Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Reviewer #2 (Public Review): Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Reviewer #1 (Public Review): Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Reviewer #1 (Public Review): Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin Open
Pigment patterns and skin appendages are prominent features of vertebrate skin. In zebrafish, regularly patterned pigment stripes and an array of calcified scales form simultaneously in the skin during post-embryonic development. Understan…
View article: Supplementary Figure 3 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 3 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 173K, Transient transfection of SOX10-specific siRNAs in 0380-MMU and UACC 1022 cells.
View article: Supplementary Figure 1 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 1 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 122K, Senescence associated heterochromatin foci (SAHF) are more pronounced in melanoma cells when SOX10shRNA is expressed compared to non-silencing (NS) control.
View article: Supplementary Figure 4 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 4 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 164K, KitlacZ and Mitfvga are not sufficient genetic alterations to suppress melanoma in Grm1Tg mice.
View article: Supplementary Figure 2 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 2 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 152K, Loss of SOX10 expression does not consistently result in changes in protein levels of Cyclin/CDK proteins responsible for RB phosphorylation in early G1 phase.
View article: Supplementary Figure 1 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 1 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 122K, Senescence associated heterochromatin foci (SAHF) are more pronounced in melanoma cells when SOX10shRNA is expressed compared to non-silencing (NS) control.
View article: Supplementary Figure 2 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 2 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 152K, Loss of SOX10 expression does not consistently result in changes in protein levels of Cyclin/CDK proteins responsible for RB phosphorylation in early G1 phase.
View article: Data from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Data from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
The transcription factor SOX10 is essential for survival and proper differentiation of neural crest cell lineages, where it plays an important role in the generation and maintenance of melanocytes. SOX10 is also highly expressed in melanom…
View article: Supplementary Figure 4 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 4 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 164K, KitlacZ and Mitfvga are not sufficient genetic alterations to suppress melanoma in Grm1Tg mice.
View article: Data from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Data from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
The transcription factor SOX10 is essential for survival and proper differentiation of neural crest cell lineages, where it plays an important role in the generation and maintenance of melanocytes. SOX10 is also highly expressed in melanom…
View article: Supplementary Figure 3 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis
Supplementary Figure 3 from SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis Open
PDF file, 173K, Transient transfection of SOX10-specific siRNAs in 0380-MMU and UACC 1022 cells.
View article: Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition
Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition Open
The human Red Hair Color (RHC) trait is caused by increased pheomelanin (red-yellow) and reduced eumelanin (black-brown) pigment in skin and hair due to diminished melanocortin 1 receptor (MC1R) function. In addition, individuals harboring…
View article: The relationship between PD-L1 and quiescence in melanocyte stem cell aging
The relationship between PD-L1 and quiescence in melanocyte stem cell aging Open
Summary A central aspect of life-long stem cell function in slow cycling stem cells is the proper regulation of cellular quiescence. How the quiescent state is achieved, whether all quiescent cells are equivalent, and if the quiescent stem…
View article: Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression Open