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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
Structural pharmacology and therapeutic potential of 5-methoxytryptamines.
Warren AL, Lankri D, Cunningham MJ, Serrano IC, Parise LF, Kruegel AC, Duggan P, Zilberg G, Capper MJ, Havel V, Russo SJ, Sames D, Wacker D. Warren AL, et al. Among authors: cunningham mj. Nature. 2024 May 8. doi: 10.1038/s41586-024-07403-2. Online ahead of print. Nature. 2024. PMID: 38720072
The Longitudinal Effects of Posterior Spinal Fusion with Derotation on Axial Deformity in Adolescent Idiopathic Scoliosis.
Linden GS, Adhiyaman A, Zucker CP, Thakur A, Wisch JL, Hillstrom H, Groisser BN, Mintz DN, Cunningham ME, Haddas R, Hresko MT, Blanco JS, Widmann RF, Heyer JH. Linden GS, et al. Among authors: cunningham me. Spine (Phila Pa 1976). 2024 May 6. doi: 10.1097/BRS.0000000000005021. Online ahead of print. Spine (Phila Pa 1976). 2024. PMID: 38709012
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Musolf AM, Justice CM, Erdogan-Yildirim Z, Goovaerts S, Cuellar A, Shaffer JR, Marazita ML, Claes P, Weinberg SM, Li J, Senders C, Zwienenberg M, Simeonov E, Kaneva R, Roscioli T, Di Pietro L, Barba M, Lattanzi W, Cunningham ML, Romitti PA, Boyadjiev SA. Musolf AM, et al. Among authors: cunningham ml. Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w. Sci Rep. 2024. PMID: 38609424 Free PMC article.
2,400 results