William J Pavan
Overview
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
11.
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...
12.
Marks M, Pavan W
Pigment Cell Melanoma Res
. 2021 Mar;
34(4):666-669.
PMID: 33750024
No abstract available.
13.
Green E, Gunter C, Biesecker L, Di Francesco V, Easter C, Feingold E, et al.
Nature
. 2020 Oct;
586(7831):683-692.
PMID: 33116284
Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role...
14.
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...
15.
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...
16.
Cougnoux A, Fellmeth M, Gu T, Davidson C, Gibson A, Pavan W, et al.
Mol Genet Metab
. 2019 Nov;
129(2):165-170.
PMID: 31668555
Niemann-Pick disease, type C1 (NPC1) is a rare neurodegenerative lysosomal storage disease with a wide spectrum of clinical manifestation. Multiple genetic factors influence the NPC1 mouse phenotype, but very little...
17.
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...
18.
Leachman S, Hornyak T, Barsh G, Bastian B, Brash D, Cleaver J, et al.
J Invest Dermatol
. 2019 Jul;
140(2):269-274.
PMID: 31348921
No abstract available.
19.
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...
20.
Pavan W, Sturm R
Annu Rev Genomics Hum Genet
. 2019 May;
20:41-72.
PMID: 31100995
Human skin and hair color are visible traits that can vary dramatically within and across ethnic populations. The genetic makeup of these traits-including polymorphisms in the enzymes and signaling proteins...