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Page 1
Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT. Mekbib KY, et al. Among authors: alper sl. Trends Mol Med. 2023 Dec;29(12):1059-1075. doi: 10.1016/j.molmed.2023.08.013. Epub 2023 Oct 4. Trends Mol Med. 2023. PMID: 37802664 Review.
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.
Robert SM, Reeves BC, Kiziltug E, Duy PQ, Karimy JK, Mansuri MS, Marlier A, Allington G, Greenberg ABW, DeSpenza T Jr, Singh AK, Zeng X, Mekbib KY, Kundishora AJ, Nelson-Williams C, Hao LT, Zhang J, Lam TT, Wilson R, Butler WE, Diluna ML, Feinberg P, Schafer DP, Movahedi K, Tannenbaum A, Koundal S, Chen X, Benveniste H, Limbrick DD Jr, Schiff SJ, Carter BS, Gunel M, Simard JM, Lifton RP, Alper SL, Delpire E, Kahle KT. Robert SM, et al. Among authors: alper sl. Cell. 2023 Feb 16;186(4):764-785.e21. doi: 10.1016/j.cell.2023.01.017. Cell. 2023. PMID: 36803604 Free PMC article.
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Le HT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Kundishora AJ, DeSpenza T, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Zhao S, et al. Among authors: alper sl. bioRxiv [Preprint]. 2023 Mar 21:2023.03.18.532837. doi: 10.1101/2023.03.18.532837. bioRxiv. 2023. PMID: 36993588 Free PMC article. Preprint.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
Singh AK, Viviano S, Allington G, McGee S, Kiziltug E, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T, Furey CG, Reeves BC, Smith H, Ma S, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: alper sl. medRxiv [Preprint]. 2023 Mar 20:2023.03.19.23287455. doi: 10.1101/2023.03.19.23287455. medRxiv. 2023. Update in: Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405 PMID: 36993720 Free PMC article. Updated. Preprint.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: alper sl. Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405. Brain. 2024. PMID: 38128548
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Duy PQ, Jux B, Zhao S, Mekbib KY, Dennis E, Dong W, Nelson-Williams C, Mehta NH, Shohfi JP, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer GB, Pisarska MD, Vásquez J, Estrada-Veras JI, Keren B, Mignot C, Flore LA, Palafoll IV, Alper SL, Lifton RP, Haider S, Moreno-De-Luca A, Jin SC, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: alper sl. Brain. 2024 Jun 4:awae175. doi: 10.1093/brain/awae175. Online ahead of print. Brain. 2024. PMID: 38833623
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F. Majmundar AJ, et al. Among authors: alper sl. Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6. Genet Med. 2023. PMID: 36571463 Free PMC article.
Apolipoprotein L1 (APOL1) cation current in HEK-293 cells and in human podocytes.
Vandorpe DH, Heneghan JF, Waitzman JS, McCarthy GM, Blasio A, Magraner JM, Donovan OG, Schaller LB, Shah SS, Subramanian B, Riella CV, Friedman DJ, Pollak MR, Alper SL. Vandorpe DH, et al. Among authors: alper sl. Pflugers Arch. 2023 Mar;475(3):323-341. doi: 10.1007/s00424-022-02767-8. Epub 2022 Nov 30. Pflugers Arch. 2023. PMID: 36449077 Free PMC article.
363 results