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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Buchert R, Burkhalter MD, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M, Haack TB. Buchert R, et al. Among authors: weber jj. Am J Hum Genet. 2025 Jan 10:S0002-9297(24)00461-0. doi: 10.1016/j.ajhg.2024.12.019. Online ahead of print. Am J Hum Genet. 2025. PMID: 39824192
Governance of Indigenous data in open earth systems science.
Jennings L, Jones K, Taitingfong R, Martinez A, David-Chavez D, Alegado Rʻ, Tofighi-Niaki A, Maldonado J, Thomas B, Dye D, Weber J, Spellman KV, Ketchum S, Duerr R, Johnson N, Balch J, Carroll SR. Jennings L, et al. Among authors: weber j. Nat Commun. 2025 Jan 10;16(1):572. doi: 10.1038/s41467-024-53480-2. Nat Commun. 2025. PMID: 39794335 Free PMC article. Review.
Properties of Maxentropic DNA Synthesis Codes.
Schouhamer Immink K, Weber JH, Cai K. Schouhamer Immink K, et al. Among authors: weber jh. Entropy (Basel). 2024 Nov 27;26(12):1028. doi: 10.3390/e26121028. Entropy (Basel). 2024. PMID: 39766657 Free PMC article.
Effects of timely case conferencing between general practitioners and specialist palliative care services on symptom burden in patients with advanced chronic disease: results of the cluster-randomised controlled KOPAL trial.
Mallon T, Schulze J, Pohontsch N, Asendorf T, Weber J, Böttcher S, Sekanina U, Schade F, Schneider N, Dams J, Freitag M, Müller C, Nauck F, Friede T, Scherer M, Marx G. Mallon T, et al. Among authors: weber j. BMC Palliat Care. 2024 Dec 20;23(1):293. doi: 10.1186/s12904-024-01623-z. BMC Palliat Care. 2024. PMID: 39707283 Free PMC article. Clinical Trial.
Efficacy of CTLA-4 checkpoint therapy is dependent on IL-21 signaling to mediate cytotoxic reprogramming of PD-1+CD8+ T cells.
Zhang Z, Langenbach M, Sagar S, Fetsch V, Stritzker J, Severa E, Meng K, Winkler F, Rana N, Zoldan K, Godbole I, Solis S, Weber JS, Rafei-Shamsabadi D, Lehr S, Diehl R, Venhoff AC, Voll RE, Buettner N, Neumann-Haefelin C, Boettler T, Hofmann M, Boerries M, Meiss F, Zeiser R, Thimme R, Herati RS, Bengsch B. Zhang Z, et al. Among authors: weber js. Nat Immunol. 2025 Jan;26(1):92-104. doi: 10.1038/s41590-024-02027-0. Epub 2024 Dec 19. Nat Immunol. 2025. PMID: 39702858
5,226 results