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Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Béziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J. Le Voyer T, et al. Among authors: weil d. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2102804118. doi: 10.1073/pnas.2102804118. Proc Natl Acad Sci U S A. 2021. PMID: 33876776 Free PMC article.
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F. Ruf RG, et al. Among authors: weil d. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12. Proc Natl Acad Sci U S A. 2004. PMID: 15141091 Free PMC article.
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear RJ, Pepermans E, Michalski N, Perfettini I, Alegria-Prévot O, Chardenoux S, Do Cruzeiro M, Hardelin JP, Richardson GP, Avan P, Weil D, Petit C. Caberlotto E, et al. Among authors: weil d. Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5825-30. doi: 10.1073/pnas.1017114108. Epub 2011 Mar 21. Proc Natl Acad Sci U S A. 2011. PMID: 21436032 Free PMC article.
[P-bodies: microscopic droplets to store mRNAs encoding regulatory proteins].
Courel M, Bénard M, Ernoult-Lange M, Chouaib R, Hubstenberger A, Kress M, Weil D. Courel M, et al. Among authors: weil d. Med Sci (Paris). 2018 Apr;34(4):306-308. doi: 10.1051/medsci/20183404009. Epub 2018 Apr 16. Med Sci (Paris). 2018. PMID: 29658471 Free article. French. No abstract available.
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Among authors: weil d. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Hoskins BE, et al. Among authors: weil d. Am J Hum Genet. 2007 Apr;80(4):800-4. doi: 10.1086/513322. Epub 2007 Feb 22. Am J Hum Genet. 2007. PMID: 17357085 Free PMC article.
362 results