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Gijs W van Haaften

Explore the profile of Gijs W van Haaften including associated specialties, affiliations and a list of published articles. Areas
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Articles 6
Citations 24
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Recent Articles
1.
Nijboer T, Hessel E, van Haaften G, van Zandvoort M, van der Spek P, Troelstra C, et al.
PLoS One . 2023 Sep; 18(9):e0290013. PMID: 37672513
Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The...
2.
Muffels I, Schene I, Rehmann H, Massink M, van der Wal M, Bauder C, et al.
Am J Hum Genet . 2023 Jan; 110(1):146-160. PMID: 36608681
Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme....
3.
Besteman S, Phung E, Raeven H, Amatngalim G, Rumpret M, Crabtree J, et al.
J Infect Dis . 2022 Apr; 226(2):258-269. PMID: 35429403
Background: Recurrent respiratory syncytial virus (RSV) infection requiring hospitalization is rare and the underlying mechanism is unknown. We aimed to determine the role of CD14-mediated immunity in the pathogenesis of...
4.
Groeneweg J, Roze J, Peters E, Sereno F, Brink A, Paijens S, et al.
Gynecol Oncol . 2021 Jun; 162(2):413-420. PMID: 34083028
Objective: Adult granulosa cell tumors (aGCTs) represent a rare, hormonally active subtype of ovarian cancer that has a tendency to relapse late and repeatedly. Current serum hormone markers are inaccurate...
5.
Broekema M, Massink M, Donato C, de Ligt J, Schaarschmidt J, Borgman A, et al.
Mol Metab . 2019 Jan; 20:115-127. PMID: 30595551
Objective: The nuclear receptor PPARγ is the master regulator of adipocyte differentiation, distribution, and function. In addition, PPARγ induces terminal differentiation of several epithelial cell lineages, including colon epithelia. Loss-of-function...
6.
Broekema M, Massink M, de Ligt J, Stigter E, Monajemi H, de Ridder J, et al.
Front Physiol . 2018 Oct; 9:1363. PMID: 30319454
Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to...