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11,012 results

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Page 1
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. Imtiaz A, et al. Among authors: dong l. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440. Hum Mol Genet. 2018. PMID: 29293958 Free PMC article.
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB. Tona R, et al. Among authors: dong l. Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. Hum Mol Genet. 2019. PMID: 30602030 Free PMC article.
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R, Lopez IA, Fenollar-Ferrer C, Faridi R, Anselmi C, Khan AA, Shahzad M, Morell RJ, Gu S, Hoa M, Dong L, Ishiyama A, Belyantseva IA, Riazuddin S, Friedman TB. Tona R, et al. Among authors: dong l. Genes (Basel). 2020 Sep 24;11(10):1122. doi: 10.3390/genes11101122. Genes (Basel). 2020. PMID: 32987832 Free PMC article.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang XF, Qu J, Lu F, Cideciyan AV, Li T, Jin ZB, Fariss RN, Ratnapriya R, Jacobson SG, Swaroop A. Veleri S, et al. Among authors: dong l. Hum Mol Genet. 2017 Jun 15;26(12):2218-2230. doi: 10.1093/hmg/ddx111. Hum Mol Genet. 2017. PMID: 28369466 Free PMC article.
Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retina.
Zhang C, Miyagishima KJ, Dong L, Rising A, Nimmagadda M, Liang G, Sharma R, Dejene R, Wang Y, Abu-Asab M, Qian H, Li Y, Kopera M, Maminishkis A, Martinez J, Miller S. Zhang C, et al. Among authors: dong l. Hum Mol Genet. 2019 Oct 15;28(20):3355-3368. doi: 10.1093/hmg/ddz171. Hum Mol Genet. 2019. PMID: 31332443 Free PMC article.
Reversing anxiety by targeting a stress-responsive signaling pathway.
Pandey S, Han W, Li J, Shepard R, Wu K, Castellano D, Tian Q, Dong L, Li Y, Lu W. Pandey S, et al. Among authors: dong l. Proc Natl Acad Sci U S A. 2024 Jul 30;121(31):e2400078121. doi: 10.1073/pnas.2400078121. Epub 2024 Jul 26. Proc Natl Acad Sci U S A. 2024. PMID: 39058580
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