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Results: 1 to 20 of 181

1.

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, Goudin N, Frémond ML, Nitschke P, Molina TJ, Blanche S, Picard C, Rice GI, Crow YJ, Manel N, Fischer A, Bader-Meunier B, Rieux-Laucat F.

J Clin Invest. 2014 Nov 17. pii: 79100. doi: 10.1172/JCI79100. [Epub ahead of print]

PMID:
25401470
[PubMed - as supplied by publisher]
2.

Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.

Mornon JP, Hoffmann B, Jonic S, Lehn P, Callebaut I.

Cell Mol Life Sci. 2014 Oct 7. [Epub ahead of print]

PMID:
25287046
[PubMed - as supplied by publisher]
3.

Nasal allergen deposition leads to conjunctival mast cell degranulation in allergic rhinoconjunctivitis.

Callebaut I, De Vries A, Steelant B, Hox V, Bobic S, Van Gerven L, Ceuppens JL, Hellings PW.

Am J Rhinol Allergy. 2014 Jul-Aug;28(4):290-6. doi: 10.2500/ajra.2014.28.4052.

PMID:
25197915
[PubMed - in process]
4.

Function, pharmacological correction and maturation of new Indian CFTR gene mutations.

Sharma H, Jollivet Souchet M, Callebaut I, Prasad R, Becq F.

J Cyst Fibros. 2014 Jul 16. pii: S1569-1993(14)00157-X. doi: 10.1016/j.jcf.2014.06.008. [Epub ahead of print]

PMID:
25042876
[PubMed - as supplied by publisher]
5.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.

Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.

PMID:
24714983
[PubMed - in process]
6.

Mice expressing RHAG and RHD human blood group genes.

Goossens D, da Silva N, Metral S, Cortes U, Callebaut I, Picot J, Mouro-Chanteloup I, Cartron JP.

PLoS One. 2013 Nov 18;8(11):e80460. doi: 10.1371/journal.pone.0080460. eCollection 2013.

PMID:
24260394
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Comprehensive repertoire of foldable regions within whole genomes.

Faure G, Callebaut I.

PLoS Comput Biol. 2013 Oct;9(10):e1003280. doi: 10.1371/journal.pcbi.1003280. Epub 2013 Oct 24.

PMID:
24204229
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

Faure G, Revy P, Schertzer M, Londono-Vallejo A, Callebaut I.

Proteins. 2014 Jun;82(6):897-903. doi: 10.1002/prot.24438. Epub 2013 Nov 22.

PMID:
24130156
[PubMed - in process]
9.

Vascular endothelial growth factor receptor 1 expression in nasal polyp tissue.

Bobic S, Hox V, Callebaut I, Vinckier S, Jonckx B, Stassen JM, Jorissen M, Gevaert P, Carmeliet P, Bachert C, Ceuppens JL, Hellings PW.

Allergy. 2014 Feb;69(2):237-45. doi: 10.1111/all.12277. Epub 2013 Oct 15.

PMID:
24127643
[PubMed - indexed for MEDLINE]
10.

Effect of nasal anti-inflammatory treatment in chronic obstructive pulmonary disease.

Callebaut I, Hox V, Bobic S, Bullens DM, Janssens W, Dupont L, Hellings PW.

Am J Rhinol Allergy. 2013 Jul-Aug;27(4):273-7. doi: 10.2500/ajra.2013.27.3887.

PMID:
23883807
[PubMed - indexed for MEDLINE]
11.

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I.

Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10.

PMID:
23784628
[PubMed - indexed for MEDLINE]
12.

Identification of hidden relationships from the coupling of hydrophobic cluster analysis and domain architecture information.

Faure G, Callebaut I.

Bioinformatics. 2013 Jul 15;29(14):1726-33. doi: 10.1093/bioinformatics/btt271. Epub 2013 May 14.

PMID:
23677940
[PubMed - indexed for MEDLINE]
Free Article
13.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P.

Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15.

PMID:
23591994
[PubMed - indexed for MEDLINE]
Free Article
14.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP.

J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21.

PMID:
23522482
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

CFTR: effect of ICL2 and ICL4 amino acids in close spatial proximity on the current properties of the channel.

Billet A, Mornon JP, Jollivet M, Lehn P, Callebaut I, Becq F.

J Cyst Fibros. 2013 Dec;12(6):737-45. doi: 10.1016/j.jcf.2013.02.002. Epub 2013 Mar 9.

PMID:
23478129
[PubMed - indexed for MEDLINE]
16.

Toxoplasma gondii Alba proteins are involved in translational control of gene expression.

Gissot M, Walker R, Delhaye S, Alayi TD, Huot L, Hot D, Callebaut I, Schaeffer-Reiss C, Dorsselaer AV, Tomavo S.

J Mol Biol. 2013 Apr 26;425(8):1287-301. doi: 10.1016/j.jmb.2013.01.039. Epub 2013 Feb 21.

PMID:
23454356
[PubMed - indexed for MEDLINE]
17.

End-joining inhibition at telomeres requires the translocase and polySUMO-dependent ubiquitin ligase Uls1.

Lescasse R, Pobiega S, Callebaut I, Marcand S.

EMBO J. 2013 Mar 20;32(6):805-15. doi: 10.1038/emboj.2013.24. Epub 2013 Feb 15.

PMID:
23417015
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Crucial role of transient receptor potential ankyrin 1 and mast cells in induction of nonallergic airway hyperreactivity in mice.

Hox V, Vanoirbeek JA, Alpizar YA, Voedisch S, Callebaut I, Bobic S, Sharify A, De Vooght V, Van Gerven L, Devos F, Liston A, Voets T, Vennekens R, Bullens DM, De Vries A, Hoet P, Braun A, Ceuppens JL, Talavera K, Nemery B, Hellings PW.

Am J Respir Crit Care Med. 2013 Mar 1;187(5):486-93. doi: 10.1164/rccm.201208-1358OC. Epub 2012 Dec 21.

PMID:
23262517
[PubMed - indexed for MEDLINE]
19.

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C.

J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15.

PMID:
22985903
[PubMed - indexed for MEDLINE]
20.

Evolution of genes involved in gamete interaction: evidence for positive selection, duplications and losses in vertebrates.

Meslin C, Mugnier S, Callebaut I, Laurin M, Pascal G, Poupon A, Goudet G, Monget P.

PLoS One. 2012;7(9):e44548. doi: 10.1371/journal.pone.0044548. Epub 2012 Sep 5.

PMID:
22957080
[PubMed - indexed for MEDLINE]
Free PMC Article

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