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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Causes of macrophyte mass development and management recommendations.
Schneider SC, Coetzee JA, Galvanese EF, Harpenslager SF, Hilt S, Immerzeel B, Köhler J, Misteli B, Motitsoe SN, Padial AA, Petruzzella A, Schechner A, Thiébaut G, Thiemer K, Vermaat JE. Schneider SC, et al. Among authors: kohler j. Sci Total Environ. 2024 Jun 25;931:172960. doi: 10.1016/j.scitotenv.2024.172960. Epub 2024 May 4. Sci Total Environ. 2024. PMID: 38710393 Free article. Review.
Genetic Mapping and Phenotypic Analysis of GstE14 E.4.1 on Eye and Antennae Development in Drosophila melanogaster.
Thomson L, Shah HP, Akinwotu Adewale V, Beise A, Bliayang C, Cioch Z, Craig M, Crump A, Durdan M, Espinosa M, Feda K, Feist J, Fragoso A, Haro G, Hoffman B, Horne P, Houha N, Hounnou S, Inman A, Jakobsze D, Juarez-Morales Y, Khan Y, Kohler J, Lawlor R, Lieser B, Loitz R, Martinez E, Martinez A, Martinez M, Maza B, Mendoza B, Miller S, Mngodo H, O'Shea S, Piane SN, Raivala E, Ruger S, Singer A, Strand JE, Traylor A, Wright A, McCabe S, Pandit SS, Bieser K, Croonquist P, Taylor EE, Wittke-Thompson J, Kagey JD, Devergne O. Thomson L, et al. Among authors: kohler j. MicroPubl Biol. 2024 Apr 13;2024:10.17912/micropub.biology.001019. doi: 10.17912/micropub.biology.001019. eCollection 2024. MicroPubl Biol. 2024. PMID: 38681673 Free PMC article.
1,338 results