Olivier M Vanakker
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Explore the profile of Olivier M Vanakker including associated specialties, affiliations and a list of published articles.
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56
Citations
691
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Recent Articles
1.
Jeanne M, Ronce N, Remize S, Arpin S, Baujat G, Breton S, et al.
J Med Genet
. 2025 Jan;
PMID: 39798962
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom...
2.
Kalanithy J, Mingardo E, Stegmann J, Dhakar R, Dakal T, Rosenfeld J, et al.
J Med Genet
. 2024 Dec;
62(2):126-137.
PMID: 39715634
Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role...
3.
Dangreau L, Hosen M, De Zaeytijd J, Leroy B, Coucke P, Vanakker O
Curr Issues Mol Biol
. 2024 Sep;
46(9):9998-10007.
PMID: 39329949
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In this report, we present two families with PXE in...
4.
Dangreau L, Nitschke Y, Rutsch F, Vanakker O
Circ Genom Precis Med
. 2024 Jun;
17(4):e004574.
PMID: 38916187
No abstract available.
5.
Van Wynsberghe J, Vanakker O
Biomolecules
. 2023 Nov;
13(11).
PMID: 38002303
Zebrafish are increasingly becoming an important model organism for studying the pathophysiological mechanisms of human diseases and investigating how these mechanisms can be effectively targeted using compounds that may open...
6.
Lindenkamp C, Plumers R, Osterhage M, Vanakker O, Van Wynsberghe J, Knabbe C, et al.
Biomedicines
. 2023 Oct;
11(10).
PMID: 37893046
Previous studies revealed a link between inflammation and overactivation of the Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signaling in syndromes associated with aging. Pseudoxanthoma elasticum (PXE), a...
7.
Kumps C, Dhaenens E, Kerkhof J, McConkey H, Alders M, Sadikovic B, et al.
Eur J Hum Genet
. 2023 Sep;
31(12):1350-1354.
PMID: 37736838
No abstract available.
8.
Van Gils M, Depauw J, Coucke P, Aerts S, Verschuere S, Nollet L, et al.
J Clin Med
. 2023 Mar;
12(5).
PMID: 36902680
Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of...
9.
Nollet L, Vanakker O
Int J Mol Sci
. 2022 Dec;
23(23).
PMID: 36499615
Ectopic calcification (EC) is characterized by an abnormal deposition of calcium phosphate crystals in soft tissues such as blood vessels, skin, and brain parenchyma. EC contributes to significant morbidity and...
10.
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, et al.
Hum Mutat
. 2022 Nov;
43(12):1872-1881.
PMID: 36317459
ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic...