Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

Authors :: Ralser DJ
Takeuchi H
Fritz G
Basmanav FB
Effern M
Sivalingam S
El-Shabrawi-Caelen L
Degirmentepe EN
Kocatürk E
Singh M
Booken N
Spierings NMK
Schnabel V
Heineke A
Knuever J
Wolf S
Wehner M
Tronnier M
Leverkus M
Tantcheva-Poór I
Wenzel J
Oji V
Has C
Hölzel M
Frank J
Haltiwanger RS
Betz RC
Source :: The Journal of investigative dermatology [J Invest Dermatol] 2019 Apr; Vol. 139 (4), pp. 960-964. Date of Electronic Publication: 2018 Nov 09.
Publication Year :: 2019

Subjects :: DNA Mutational Analysis
Disease Progression
Female
Glucosyltransferases metabolism
Humans
Hyperpigmentation metabolism
Male
Signal Transduction
Skin Diseases, Genetic metabolism
Skin Diseases, Papulosquamous metabolism
Glucosyltransferases genetics
Hyperpigmentation genetics
Mutation
Skin Diseases, Genetic genetics
Skin Diseases, Papulosquamous genetics

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