Search Results - "Wedel, Julia C"
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Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
Published in Disease models & mechanisms (13-03-2020)“…Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and…”
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Journal Article -
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MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells
Published in Epigenetics & chromatin (09-08-2019)“…The MAPK/ERK signaling pathway is an essential regulator of numerous cell processes that are crucial for normal development as well as cancer progression…”
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Journal Article -
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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
Published in American journal of human genetics (06-07-2023)“…Oculocutaneous albinism (OCA) is a rare disorder of pigment production. Affected individuals have variably decreased global pigmentation and…”
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Journal Article -
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Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
Published in Disease models & mechanisms (01-01-2020)“…Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and…”
Get full text
Journal Article