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Page 1
Initiation and maintenance of the pluripotent epiblast in pre-implantation human development is independent of NODAL signaling.
Brumm AS, McCarthy A, Gerri C, Fallesen T, Woods L, McMahon R, Papathanasiou A, Elder K, Snell P, Christie L, Garcia P, Shaikly V, Taranissi M, Serhal P, Odia RA, Vasilic M, Osnato A, Rugg-Gunn PJ, Vallier L, Hill CS, Niakan KK. Brumm AS, et al. Among authors: snell p. Dev Cell. 2024 Nov 15:S1534-5807(24)00639-7. doi: 10.1016/j.devcel.2024.10.020. Online ahead of print. Dev Cell. 2024. PMID: 39561779 Free article.
The 4EHP-mediated translational repression of cGAS impedes the host immune response against DNA viruses.
Ladak RJ, Choi JH, Luo J, Chen OJ, Mahmood N, He AJ, Naeli P, Snell PH, Bayani E, Hoang HD, Alain T, Teodoro JG, Wang J, Zhang X, Jafarnejad SM, Sonenberg N. Ladak RJ, et al. Among authors: snell ph. Proc Natl Acad Sci U S A. 2024 Nov 26;121(48):e2413018121. doi: 10.1073/pnas.2413018121. Epub 2024 Nov 19. Proc Natl Acad Sci U S A. 2024. PMID: 39560640 Free PMC article.
mTOR activity paces human blastocyst stage developmental progression.
Iyer DP, Khoei HH, van der Weijden VA, Kagawa H, Pradhan SJ, Novatchkova M, McCarthy A, Rayon T, Simon CS, Dunkel I, Wamaitha SE, Elder K, Snell P, Christie L, Schulz EG, Niakan KK, Rivron N, Bulut-Karslioğlu A. Iyer DP, et al. Among authors: snell p. Cell. 2024 Nov 14;187(23):6566-6583.e22. doi: 10.1016/j.cell.2024.08.048. Epub 2024 Sep 26. Cell. 2024. PMID: 39332412 Free PMC article.
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina C, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin C, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: snell p. medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158. medRxiv. 2024. PMID: 39252907 Free PMC article. Preprint.
Transcription factor-based transdifferentiation of human embryonic to trophoblast stem cells.
Balestrini PA, Abdelbaki A, McCarthy A, Devito L, Senner CE, Chen AE, Munusamy P, Blakeley P, Elder K, Snell P, Christie L, Serhal P, Odia RA, Sangrithi M, Niakan KK, Fogarty NME. Balestrini PA, et al. Among authors: snell p. Development. 2024 Sep 1;151(17):dev202778. doi: 10.1242/dev.202778. Epub 2024 Sep 10. Development. 2024. PMID: 39250534 Free PMC article.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: snell p. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: snell p. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7 PMID: 38645094 Free PMC article. Updated. Preprint.
Feasibility, safety, and impact of the RTS,S/AS01E malaria vaccine when implemented through national immunisation programmes: evaluation of cluster-randomised introduction of the vaccine in Ghana, Kenya, and Malawi.
Asante KP, Mathanga DP, Milligan P, Akech S, Oduro A, Mwapasa V, Moore KA, Kwambai TK, Hamel MJ, Gyan T, Westercamp N, Kapito-Tembo A, Njuguna P, Ansong D, Kariuki S, Mvalo T, Snell P, Schellenberg D, Welega P, Otieno L, Chimala A, Afari EA, Bejon P, Maleta K, Agbenyega T, Snow RW, Zulu M, Chinkhumba J, Samuels AM; Malaria Vaccine Programme Evaluation Partners. Asante KP, et al. Among authors: snell p. Lancet. 2024 Apr 27;403(10437):1660-1670. doi: 10.1016/S0140-6736(24)00004-7. Epub 2024 Apr 4. Lancet. 2024. PMID: 38583454 Free article. Clinical Trial.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: snell p. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
176 results