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Items: 1 to 20 of 196

1.

Conjunctival allergen provocation test : guidelines for daily practice.

Fauquert JL, Jedrzejczak-Czechowicz M, Rondon C, Calder V, Silva D, Kvenshagen BK, Callebaut I, Allegri P, Santos N, Doan S, Perez Formigo D, Chiambaretta F, Delgado L, Leonardi A; Interest Group on Ocular Allergy (IGOA) from the European Academy of Allergy and Clinical Immunology.

Allergy. 2016 Jul 19. doi: 10.1111/all.12986. [Epub ahead of print]

PMID:
27430124
2.

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.

Rose C, Callebaut I, Pascal L, Oudin C, Fournier M, Gouya L, Lambilliotte A, Kannengiesser C.

Br J Haematol. 2016 Jun 13. doi: 10.1111/bjh.14164. [Epub ahead of print] No abstract available.

PMID:
27292130
3.

Deficiency in Mucosa Associated Lymphoid Tissue Lymphoma Translocation 1 (MALT1): A Novel Cause of Ipex-Like Syndrome.

Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group.

J Pediatr Gastroenterol Nutr. 2016 Jun 2. [Epub ahead of print]

PMID:
27253662
4.

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

Zhang S, Pondarre C, Pennarun G, Labussiere-Wallet H, Vera G, France B, Chansel M, Rouvet I, Revy P, Lopez B, Soulier J, Bertrand P, Callebaut I, de Villartay JP.

J Exp Med. 2016 May 30;213(6):1011-28. doi: 10.1084/jem.20151183. Epub 2016 May 16.

PMID:
27185855
5.

Unconventional endosome-like compartment and retromer complex in Toxoplasma gondii govern parasite integrity and host infection.

Sangaré LO, Alayi TD, Westermann B, Hovasse A, Sindikubwabo F, Callebaut I, Werkmeister E, Lafont F, Slomianny C, Hakimi MA, Van Dorsselaer A, Schaeffer-Reiss C, Tomavo S.

Nat Commun. 2016 Apr 11;7:11191. doi: 10.1038/ncomms11191.

6.

New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes.

Silvy M, Callebaut I, Filosa L, Granier T, Chiaroni J, Bailly P.

Transfusion. 2016 May;56(5):1223-9. doi: 10.1111/trf.13553. Epub 2016 Mar 20.

PMID:
26996808
7.

The respective roles of polar/nonpolar binary patterns and amino acid composition in protein regular secondary structures explored exhaustively using hydrophobic cluster analysis.

Rebehmed J, Quintus F, Mornon JP, Callebaut I.

Proteins. 2016 May;84(5):624-38. doi: 10.1002/prot.25012. Epub 2016 Mar 9.

PMID:
26868538
8.

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P.

Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23.

PMID:
26847928
9.

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P.

J Allergy Clin Immunol. 2015 Dec;136(6):1619-26.e1-5. doi: 10.1016/j.jaci.2015.06.008. Epub 2015 Jul 26.

PMID:
26220525
10.

Mutation of a Single Envelope N-Linked Glycosylation Site Enhances the Pathogenicity of Bovine Leukemia Virus.

de Brogniez A, Bouzar AB, Jacques JR, Cosse JP, Gillet N, Callebaut I, Reichert M, Willems L.

J Virol. 2015 Sep;89(17):8945-56. doi: 10.1128/JVI.00261-15. Epub 2015 Jun 17.

11.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B.

Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.

PMID:
26022962
12.

Expanding Duplication of Free Fatty Acid Receptor-2 (GPR43) Genes in the Chicken Genome.

Meslin C, Desert C, Callebaut I, Djari A, Klopp C, Pitel F, Leroux S, Martin P, Froment P, Guilbert E, Gondret F, Lagarrigue S, Monget P.

Genome Biol Evol. 2015 Apr 24;7(5):1332-48. doi: 10.1093/gbe/evv072.

13.

Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.

Cai Z, Palmai-Pallag T, Khuituan P, Mutolo MJ, Boinot C, Liu B, Scott-Ward TS, Callebaut I, Harris A, Sheppard DN.

J Physiol. 2015 Jun 1;593(11):2427-46. doi: 10.1113/JP270227. Epub 2015 Apr 9.

14.

Detection of orphan domains in Drosophila using "hydrophobic cluster analysis".

Bitard-Feildel T, Heberlein M, Bornberg-Bauer E, Callebaut I.

Biochimie. 2015 Dec;119:244-53. doi: 10.1016/j.biochi.2015.02.019. Epub 2015 Feb 28.

PMID:
25736992
15.

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

Rebehmed J, Revy P, Faure G, de Villartay JP, Callebaut I.

FEBS Lett. 2014 Nov 28;588(23):4431-7. doi: 10.1016/j.febslet.2014.10.014. Epub 2014 Oct 18.

16.

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 Dec;124(12):5516-20. doi: 10.1172/JCI79100. Epub 2014 Nov 17.

17.

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. 2015 Apr;72(7):1377-403. doi: 10.1007/s00018-014-1749-2. Epub 2014 Oct 7.

PMID:
25287046
18.

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
19.

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. 2015 Jan;14(1):34-41. doi: 10.1016/j.jcf.2014.06.008. Epub 2014 Jul 16.

PMID:
25042876
20.

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.

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