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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Akula SK, Marciano JH, Lim Y, Exposito-Alonso D, Hylton NK, Hwang GH, Neil JE, Dominado N, Bunton-Stasyshyn RK, Song JHT, Talukdar M, Schmid A, Teboul L, Mo A, Shin T, Finander B, Beck SG, Yeh RC, Otani A, Qian X, DeGennaro EM, Alkuraya FS, Maddirevula S, Cascino GD, Giannini C; Undiagnosed Diseases Network; Burrage LC, Rosenfield JA, Ketkar S, Clark GD, Bacino C, Lewis RA, Segal RA, Bazan JF, Smith KA, Golden JA, Cho G, Walsh CA. Akula SK, et al. Among authors: smith ka. Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209964120. doi: 10.1073/pnas.2209964120. Epub 2023 Jan 20. Proc Natl Acad Sci U S A. 2023. PMID: 36669111 Free PMC article.
The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythm.
Koopman CD, De Angelis J, Iyer SP, Verkerk AO, Da Silva J, Berecki G, Jeanes A, Baillie GJ, Paterson S, Uribe V, Ehrlich OV, Robinson SD, Garric L, Petrou S, Simons C, Vetter I, Hogan BM, de Boer TP, Bakkers J, Smith KA. Koopman CD, et al. Among authors: smith ka. Proc Natl Acad Sci U S A. 2021 Mar 2;118(9):e2018220118. doi: 10.1073/pnas.2018220118. Proc Natl Acad Sci U S A. 2021. PMID: 33597309 Free PMC article.
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development.
Kartopawiro J, Bower NI, Karnezis T, Kazenwadel J, Betterman KL, Lesieur E, Koltowska K, Astin J, Crosier P, Vermeren S, Achen MG, Stacker SA, Smith KA, Harvey NL, François M, Hogan BM. Kartopawiro J, et al. Among authors: smith ka. Hum Mol Genet. 2014 Mar 1;23(5):1286-97. doi: 10.1093/hmg/ddt518. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163130
The RNA helicase Ddx21 controls Vegfc-driven developmental lymphangiogenesis by balancing endothelial cell ribosome biogenesis and p53 function.
Koltowska K, Okuda KS, Gloger M, Rondon-Galeano M, Mason E, Xuan J, Dudczig S, Chen H, Arnold H, Skoczylas R, Bower NI, Paterson S, Lagendijk AK, Baillie GJ, Leshchiner I, Simons C, Smith KA, Goessling W, Heath JK, Pearson RB, Sanij E, Schulte-Merker S, Hogan BM. Koltowska K, et al. Among authors: smith ka. Nat Cell Biol. 2021 Nov;23(11):1136-1147. doi: 10.1038/s41556-021-00784-w. Epub 2021 Nov 8. Nat Cell Biol. 2021. PMID: 34750583
1,155 results