William J Pavan
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Explore the profile of William J Pavan including associated specialties, affiliations and a list of published articles.
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111
Citations
3855
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Recent Articles
1.
Quiescence and aging of melanocyte stem cells and a novel association with programmed death-ligand 1
Palmer J, Villavicencio K, Idris M, Baranyk I, Polycarp N, Dawson A, et al.
iScience
. 2024 Oct;
27(10):110908.
PMID: 39351197
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...
2.
Mylvara A, Gibson A, Gu T, Davidson C, Incao A, Melnyk K, et al.
bioRxiv
. 2024 Jun;
PMID: 38895471
Niemann-Pick disease, type C1 (NPC1) is a rare, fatal neurodegenerative disorder caused by pathological variants in , which encodes a lysosomal cholesterol transport protein. There are no FDA approved treatments...
3.
Berns H, Watkins-Chow D, Lu S, Louphrasitthiphol P, Zhang T, Brown K, et al.
Pigment Cell Melanoma Res
. 2023 Nov;
37(2):291-308.
PMID: 37972124
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....
4.
Watkins-Chow D, Incao A, Rivas C, Elliott G, Garrett L, Pavan W
Pigment Cell Melanoma Res
. 2023 Oct;
37(2):259-264.
PMID: 37874775
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...
5.
Aman A, Saunders L, Carr A, Srivatasan S, Eberhard C, Carrington B, et al.
Elife
. 2023 Sep;
12.
PMID: 37695017
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...
6.
Loftus S, Gillis M, Lundh L, Baxter L, Wedel J, Watkins-Chow D, et al.
Am J Hum Genet
. 2023 Jun;
110(7):1123-1137.
PMID: 37327787
Oculocutaneous albinism (OCA) is a rare disorder of pigment production. Affected individuals have variably decreased global pigmentation and visual-developmental changes that lead to low vision. OCA is notable for significant...
7.
Berns H, Watkins-Chow D, Lu S, Louphrasitthiphol P, Zhang T, Brown K, et al.
bioRxiv
. 2023 Apr;
PMID: 37090624
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....
8.
Baxter L, Watkins-Chow D, Johnson N, Farhat N, Platt F, Dale R, et al.
Sci Rep
. 2022 Feb;
12(1):2162.
PMID: 35140266
Niemann-Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage disorder which exhibits highly variable severity and disease progression as well as a wide-ranging age of onset, from...
9.
Davidson C, Gibson A, Gu T, Baxter L, Deverman B, Beadle K, et al.
Life Sci Alliance
. 2021 Aug;
4(10).
PMID: 34407999
Niemann-Pick C1 disease (NPC1) is a rare, fatal neurodegenerative disease caused by mutations in , which encodes the lysosomal cholesterol transport protein NPC1. Disease pathology involves lysosomal accumulation of cholesterol...
10.
Rodriguez-Gil J, Baxter L, Watkins-Chow D, Johnson N, Davidson C, Carlson S, et al.
Hum Mol Genet
. 2021 Jul;
30(24):2456-2468.
PMID: 34296265
The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and...