Lore Pottie
Overview
Explore the profile of Lore Pottie including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
9
Citations
39
Followers
0
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Recent Articles
1.
Beyls E, Duthoo E, Backers L, Claes K, De Bruyne M, Pottie L, et al.
J Clin Immunol
. 2025 Feb;
45(1):75.
PMID: 39945898
Human inborn errors of immunity (IEI) represent a diverse group of genetic disorders affecting the innate and/or adaptive immune system. Some IEI entities comprise defects in DNA repair factors, resulting...
2.
Beyens A, Weytens J, Pottie L, De Meulemeester S, Aelbrecht K, De Feyter S, et al.
J Am Acad Dermatol
. 2024 Nov;
92(3):607-610.
PMID: 39532230
No abstract available.
3.
Adamo C, Beyens A, Schiavinato A, Keene D, Tufa S, Morgelin M, et al.
Am J Hum Genet
. 2022 Nov;
109(12):2230-2252.
PMID: 36351433
EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective...
4.
Beyens A, Pottie L, Sips P, Callewaert B
Adv Exp Med Biol
. 2022 Jan;
1348:C1.
PMID: 34985652
No abstract available.
5.
Pottie L, Adamo C, Beyens A, Lutke S, Tapaneeyaphan P, De Clercq A, et al.
Am J Hum Genet
. 2021 Dec;
108(12):2386-2388.
PMID: 34861177
No abstract available.
6.
Beyens A, Pottie L, Sips P, Callewaert B
Adv Exp Med Biol
. 2021 Nov;
1348:273-309.
PMID: 34807425
Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber...
7.
Pottie L, Van Gool W, Vanhooydonck M, Hanisch F, Goeminne G, Rajkovic A, et al.
PLoS Genet
. 2021 Jun;
17(6):e1009603.
PMID: 34143769
The inability to maintain a strictly regulated endo(lyso)somal acidic pH through the proton-pumping action of the vacuolar-ATPases (v-ATPases) has been associated with various human diseases including heritable connective tissue disorders....
8.
Pottie L, Adamo C, Beyens A, Lutke S, Tapaneeyaphan P, De Clercq A, et al.
Am J Hum Genet
. 2021 May;
108(6):1095-1114.
PMID: 33991472
Latent transforming growth factor β (TGFβ)-binding proteins (LTBPs) are microfibril-associated proteins essential for anchoring TGFβ in the extracellular matrix (ECM) as well as for correct assembly of ECM components. Variants...
9.
Verlee M, Beyens A, Gezdirici A, Gulec E, Pottie L, De Feyter S, et al.
Genes (Basel)
. 2021 Apr;
12(4).
PMID: 33807164
Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations,...
10.
Beyens A, Van Meensel K, Pottie L, De Rycke R, De Bruyne M, Baeke F, et al.
Genes (Basel)
. 2019 Jul;
10(7).
PMID: 31336972
Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. The main clinical features, including cutis laxa, bony exostoses, and...