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Page 1
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Sperelakis-Beedham B, Lopez M, Bourrat E, Gaitch N, Houriez F, Martinez B, Fajac I, Burgel PR, Hickman G, Audrézet MP, Gonde D, Cabet F, Gerfaud-Valentin M, Nove-Josserand R, Raynal C, Pagin A, Reboul MP, de Becdelièvre A, Bienvenu T, Callebaut I, Girodon E. Sperelakis-Beedham B, et al. Among authors: callebaut i. J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24. J Eur Acad Dermatol Venereol. 2023. PMID: 36645858 No abstract available.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: callebaut i. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Among authors: callebaut i. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
MiniBAR/GARRE1 is a dual Rac and Rab effector required for ciliogenesis.
Serres MP, Shaughnessy R, Escot S, Hammich H, Cuvelier F, Salles A, Rocancourt M, Verdon Q, Gaffuri AL, Sourigues Y, Malherbe G, Velikovsky L, Chardon F, Sassoon N, Tinevez JY, Callebaut I, Formstecher E, Houdusse A, David NB, Pylypenko O, Echard A. Serres MP, et al. Among authors: callebaut i. Dev Cell. 2023 Nov 20;58(22):2477-2494.e8. doi: 10.1016/j.devcel.2023.09.010. Epub 2023 Oct 23. Dev Cell. 2023. PMID: 37875118
Efficacy of Alkaline Phosphatase in Critically Ill Patients with COVID-19: A Multicentre Investigator-Initiated Double-Blind Randomised Placebo-Controlled Trial.
Pijpe A, Papendorp SG, van der Heijden JW, Vermin B, Ertugrul I, Ritt MWJ, Stessel B, Callebaut I, Beishuizen A, Vlig M, Jimmink J, Huijgen HJ, van Zuijlen PPM, Middelkoop E, de Jong E. Pijpe A, et al. Among authors: callebaut i. Biomedicines. 2024 Mar 25;12(4):723. doi: 10.3390/biomedicines12040723. Biomedicines. 2024. PMID: 38672081 Free PMC article.
Response to Fu-Shan Xue's letter to the editor.
Vandenbrande J, Jalil H, Callebaut I, Stessel B. Vandenbrande J, et al. Among authors: callebaut i. Reg Anesth Pain Med. 2023 Nov 29:rapm-2023-105044. doi: 10.1136/rapm-2023-105044. Online ahead of print. Reg Anesth Pain Med. 2023. PMID: 38050165 No abstract available.
Comprehensive antibody and cytokine profiling in hospitalized COVID-19 patients in relation to clinical outcomes in a large Belgian cohort.
Ruytinx P, Vandormael P, Fraussen J, Pieters Z, Thonissen S, Hellings N, Stinissen P, Callebaut I, Penders J, Vanhove K, Kieffer D, Rummens JL, Valkenborgh T, Messiaen P, Stessel B, Mesotten D, Somers V. Ruytinx P, et al. Among authors: callebaut i. Sci Rep. 2023 Nov 7;13(1):19322. doi: 10.1038/s41598-023-46421-4. Sci Rep. 2023. PMID: 37935729 Free PMC article.
300 results