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Page 1
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: eguether t. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Loss of primary cilia promotes inflammation and carcinogenesis.
Paul C, Tang R, Longobardi C, Lattanzio R, Eguether T, Turali H, Bremond J, Maurizy C, Gabola M, Poupeau S, Turtoi A, Denicolai E, Cufaro MC, Svrcek M, Seksik P, Castronovo V, Delvenne P, de Laurenzi V, Da Costa Q, Bertucci F, Lemmers B, Pieragostino D, Mamessier E, Janke C, Pinet V, Hahne M. Paul C, et al. Among authors: eguether t. EMBO Rep. 2022 Dec 6;23(12):e55687. doi: 10.15252/embr.202255687. Epub 2022 Oct 25. EMBO Rep. 2022. PMID: 36281991 Free PMC article.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: eguether t. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.
High performance liquid chromatography-tandem mass spectrometry quantification of tryptophan metabolites in human serum and stool - Application to clinical cohorts in Inflammatory Bowel Diseases.
Desmons A, Humbert L, Eguether T, Krasniqi P, Rainteau D, Mahdi T, Kapel N, Lamazière A. Desmons A, et al. Among authors: eguether t. J Chromatogr A. 2022 Dec 6;1685:463602. doi: 10.1016/j.chroma.2022.463602. Epub 2022 Nov 3. J Chromatogr A. 2022. PMID: 36371922 Free article.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: eguether t. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286106. doi: 10.1101/2023.02.23.23286106. medRxiv. 2023. PMID: 36865301 Free PMC article. Updated. Preprint.
21 results