Stacie K Loftus
Overview
Explore the profile of Stacie K Loftus including associated specialties, affiliations and a list of published articles.
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38
Citations
1330
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Recent Articles
1.
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...
2.
Koirala M, Shashikala H, Jeffries J, Wu B, Loftus S, Zippin J, et al.
Int J Mol Sci
. 2021 Aug;
22(15).
PMID: 34361043
Intravesicular pH plays a crucial role in melanosome maturation and function. Melanosomal pH changes during maturation from very acidic in the early stages to neutral in late stages. Neutral pH...
3.
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...
4.
Fufa T, Baxter L, Wedel J, Gildea D, Loftus S, Pavan W
Epigenetics Chromatin
. 2019 Aug;
12(1):50.
PMID: 31399133
Background: The MAPK/ERK signaling pathway is an essential regulator of numerous cell processes that are crucial for normal development as well as cancer progression. While much is known regarding MAPK/ERK...
5.
Lona-Durazo F, Hernandez-Pacheco N, Fan S, Zhang T, Choi J, Kovacs M, et al.
BMC Genet
. 2019 Jul;
20(1):59.
PMID: 31315583
Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four...
6.
Baxter L, Watkins-Chow D, Pavan W, Loftus S
Pigment Cell Melanoma Res
. 2018 Oct;
32(3):348-358.
PMID: 30339321
Over the past century, studies of human pigmentary disorders along with mouse and zebrafish models have shed light on the many cellular functions associated with visible pigment phenotypes. This has...
7.
Zhang T, Choi J, Kovacs M, Shi J, Xu M, Goldstein A, et al.
Genome Res
. 2018 Oct;
28(11):1621-1635.
PMID: 30333196
Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human...
8.
Loftus S
Pigment Cell Melanoma Res
. 2018 Jan;
31(3):442-447.
PMID: 29337423
The number of melanocyte- and melanoma-derived next generation sequence genome-scale datasets have rapidly expanded over the past several years. This resource guide provides a summary of publicly available sources of...
9.
Cronin J, Loftus S, Baxter L, Swatkoski S, Gucek M, Pavan W
PLoS One
. 2018 Jan;
13(1):e0190834.
PMID: 29315345
The transcription factor SOX10 plays an important role in vertebrate neural crest development, including the establishment and maintenance of the melanocyte lineage. SOX10 is also highly expressed in melanoma tumors,...
10.
Crawford N, Kelly D, Hansen M, Beltrame M, Fan S, Bowman S, et al.
Science
. 2017 Oct;
358(6365).
PMID: 29025994
Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near...