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2015 1
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2023 5
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22 results

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Page 1
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location.
Liu I, Jiang L, Samuelsson ER, Marco Salas S, Beck A, Hack OA, Jeong D, Shaw ML, Englinger B, LaBelle J, Mire HM, Madlener S, Mayr L, Quezada MA, Trissal M, Panditharatna E, Ernst KJ, Vogelzang J, Gatesman TA, Halbert ME, Palova H, Pokorna P, Sterba J, Slaby O, Geyeregger R, Diaz A, Findlay IJ, Dun MD, Resnick A, Suvà ML, Jones DTW, Agnihotri S, Svedlund J, Koschmann C, Haberler C, Czech T, Slavc I, Cotter JA, Ligon KL, Alexandrescu S, Yung WKA, Arrillaga-Romany I, Gojo J, Monje M, Nilsson M, Filbin MG. Liu I, et al. Among authors: pokorna p. Nat Genet. 2022 Dec;54(12):1881-1894. doi: 10.1038/s41588-022-01236-3. Epub 2022 Dec 5. Nat Genet. 2022. PMID: 36471067 Free PMC article.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Zhang Q, et al. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. J Exp Med. 2022. PMID: 35708626 Free PMC article.
Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity.
Sterba M, Pokorna P, Faberova R, Pinkova B, Skotakova J, Seehofnerova A, Blatny J, Janigova L, Koskova O, Palova H, Mahdal M, Pazourek L, Jabandziev P, Slaby O, Mudry P, Sterba J. Sterba M, et al. Among authors: pokorna p. Sci Rep. 2023 Jun 28;13(1):10499. doi: 10.1038/s41598-023-37468-4. Sci Rep. 2023. PMID: 37380669 Free PMC article.
Metallothionein-3 promotes cisplatin chemoresistance remodelling in neuroblastoma.
Rodrigo MAM, Michalkova H, Strmiska V, Casar B, Crespo P, de Los Rios V, Ignacio Casal J, Haddad Y, Guran R, Eckschlager T, Pokorna P, Heger Z, Adam V. Rodrigo MAM, et al. Among authors: pokorna p. Sci Rep. 2021 Mar 9;11(1):5496. doi: 10.1038/s41598-021-84185-x. Sci Rep. 2021. PMID: 33750814 Free PMC article.
Tazemetostat in the therapy of pediatric INI1-negative malignant rhabdoid tumors.
Vejmelkova K, Pokorna P, Noskova K, Faustmannova A, Drabova K, Pavelka Z, Bajciova V, Broz M, Tinka P, Jezova M, Palova H, Kren L, Valik D, Slaby O, Sterba J. Vejmelkova K, et al. Among authors: pokorna p. Sci Rep. 2023 Dec 7;13(1):21623. doi: 10.1038/s41598-023-48774-2. Sci Rep. 2023. PMID: 38062114 Free PMC article.
Minimal Residual Disease-Guided Intermittent Dosing in Patients With Cancer: Successful Treatment of Chemoresistant Anaplastic Large Cell Lymphoma Using Intermittent Lorlatinib Dosing.
Pokorna P, Lakka Klement G, Vasikova A, Kanderova V, Jezova M, Noskova K, Mudry P, Kyr M, Merta T, Bajciova V, Krenova Z, Palova H, Valik D, Zdrazilova Dubska L, Slaby O, Sterba J. Pokorna P, et al. JCO Precis Oncol. 2022 Jun;6:e2100525. doi: 10.1200/PO.21.00525. JCO Precis Oncol. 2022. PMID: 35700412 Free PMC article. No abstract available.
European aerosol phenomenology - 8: Harmonised source apportionment of organic aerosol using 22 Year-long ACSM/AMS datasets.
Chen G, Canonaco F, Tobler A, Aas W, Alastuey A, Allan J, Atabakhsh S, Aurela M, Baltensperger U, Bougiatioti A, De Brito JF, Ceburnis D, Chazeau B, Chebaicheb H, Daellenbach KR, Ehn M, El Haddad I, Eleftheriadis K, Favez O, Flentje H, Font A, Fossum K, Freney E, Gini M, Green DC, Heikkinen L, Herrmann H, Kalogridis AC, Keernik H, Lhotka R, Lin C, Lunder C, Maasikmets M, Manousakas MI, Marchand N, Marin C, Marmureanu L, Mihalopoulos N, Močnik G, Nęcki J, O'Dowd C, Ovadnevaite J, Peter T, Petit JE, Pikridas M, Matthew Platt S, Pokorná P, Poulain L, Priestman M, Riffault V, Rinaldi M, Różański K, Schwarz J, Sciare J, Simon L, Skiba A, Slowik JG, Sosedova Y, Stavroulas I, Styszko K, Teinemaa E, Timonen H, Tremper A, Vasilescu J, Via M, Vodička P, Wiedensohler A, Zografou O, Cruz Minguillón M, Prévôt ASH. Chen G, et al. Among authors: pokorna p. Environ Int. 2022 Aug;166:107325. doi: 10.1016/j.envint.2022.107325. Epub 2022 May 30. Environ Int. 2022. PMID: 35716508 Free article.
22 results