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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK. Goodman LD, et al. Among authors: dutta d. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. Am J Hum Genet. 2021. PMID: 34314705 Free PMC article.
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Marcogliese PC, et al. Among authors: dutta d. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044823 Free PMC article.
Sphingolipids in neurodegenerative diseases.
Pan X, Dutta D, Lu S, Bellen HJ. Pan X, et al. Among authors: dutta d. Front Neurosci. 2023 Feb 16;17:1137893. doi: 10.3389/fnins.2023.1137893. eCollection 2023. Front Neurosci. 2023. PMID: 36875645 Free PMC article. Review.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ. Dutta D, et al. Proc Natl Acad Sci U S A. 2024 Feb 27;121(9):e2322582121. doi: 10.1073/pnas.2322582121. Epub 2024 Feb 21. Proc Natl Acad Sci U S A. 2024. PMID: 38381787
Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Among authors: dutta d. Genet Med. 2024 Jun 3:101174. doi: 10.1016/j.gim.2024.101174. Online ahead of print. Genet Med. 2024. PMID: 38847193
1,761 results