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733 results

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Page 1
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Li D, et al. Among authors: seiler c. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1. Nat Med. 2023. PMID: 37264205
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. Among authors: seiler c. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Iwata-Otsubo A, et al. Among authors: seiler c. Hum Genet. 2024 Mar;143(3):437-453. doi: 10.1007/s00439-024-02656-3. Epub 2024 Mar 23. Hum Genet. 2024. PMID: 38520561
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.
Haroon S, Yoon H, Seiler C, Osei-Frimpong B, He J, Nair RM, Mathew ND, Burg L, Kose M, Venkata CRM, Anderson VE, Nakamaru-Ogiso E, Falk MJ. Haroon S, et al. Among authors: seiler c. Hum Mol Genet. 2023 Jun 5;32(12):1988-2004. doi: 10.1093/hmg/ddad031. Hum Mol Genet. 2023. PMID: 36795052 Free PMC article.
Multipotent adult progenitor cells prevent functional impairment and improve development in inflammation driven detriment of preterm ovine lungs.
Neuen SML, Ophelders DRMG, Widowski H, Hütten MC, Brokken T, van Gorp C, Nikkels PGJ, Severens-Rijvers CAH, Sthijns MMJPE, van Blitterswijk CA, Troost FJ, LaPointe VLS, Jolani S, Seiler C, Pillow JJ, Delhaas T, Reynaert NL, Wolfs TGAM. Neuen SML, et al. Among authors: seiler c. Regen Ther. 2024 Mar 28;27:207-217. doi: 10.1016/j.reth.2024.03.014. eCollection 2024 Dec. Regen Ther. 2024. PMID: 38576851 Free PMC article.
HOMEOBOX2, the paralog of SIX-ROWED SPIKE1/HOMEOBOX1, is dispensable for barley spikelet development.
Thirulogachandar V, Govind G, Hensel G, Kale SM, Kuhlmann M, Eschen-Lippold L, Rutten T, Koppolu R, Rajaraman J, Palakolanu SR, Seiler C, Sakuma S, Jayakodi M, Lee J, Kumlehn J, Komatsuda T, Schnurbusch T, Sreenivasulu N. Thirulogachandar V, et al. Among authors: seiler c. J Exp Bot. 2024 Feb 15:erae044. doi: 10.1093/jxb/erae044. Online ahead of print. J Exp Bot. 2024. PMID: 38366171
Prevention of incisional hernia with prophylactic onlay and sublay mesh reinforcement vs. primary suture only in midline laparotomies (PRIMA): long-term outcomes of a multicentre, double-blind, randomised controlled trial.
Van den Dop LM, Sneiders D, Yurtkap Y, Werba A, van Klaveren D, Pierik REGJM, Reim D, Timmermans L, Fortelny RH, Mihaljevic AL, Kleinrensink GJ, Tanis PJ, Lange JF, Jeekel J; PRIMA Trialist Group. Van den Dop LM, et al. Lancet Reg Health Eur. 2023 Nov 22;36:100787. doi: 10.1016/j.lanepe.2023.100787. eCollection 2024 Jan. Lancet Reg Health Eur. 2023. PMID: 38188275 Free PMC article.
733 results