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Dawn E Watkins-Chow

Explore the profile of Dawn E Watkins-Chow including associated specialties, affiliations and a list of published articles. Areas
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Articles 30
Citations 744
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Recent Articles
1.
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....
2.
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...
3.
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...
4.
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....
5.
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...
6.
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...
7.
Loftus S, Lundh L, Watkins-Chow D, Baxter L, Pairo-Castineira E, Nisc Comparative Sequencing Program , et al.
Hum Mutat . 2021 Jul; 42(10):1239-1253. PMID: 34246199
Oculocutaneous albinism (OCA) is a heritable disorder of pigment production that manifests as hypopigmentation and altered eye development. Exon sequencing of known OCA genes is unsuccessful in producing a complete...
8.
Rodriguez-Gil J, Watkins-Chow D, Baxter L, Elliot G, Harper U, Wincovitch S, et al.
Dis Model Mech . 2020 Jan; 13(3). PMID: 31996359
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration...
9.
Rodriguez-Gil J, Watkins-Chow D, Baxter L, Yokoyama T, Zerfas P, Starost M, et al.
J Clin Med . 2019 Dec; 9(1). PMID: 31861571
The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of , which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and...
10.
Fialkowski A, Levy D, Watkins-Chow D, Palmer J, Darji R, Tiwari H, et al.
G3 (Bethesda) . 2019 Jan; 9(3):817-827. PMID: 30651286
Age-related hair graying is caused by malfunction in the regenerative potential of the adult pigmentation system. The retention of hair color over the life of an organism is dependent on...