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22 results

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Page 1
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: smak j. medRxiv [Preprint]. 2023 Aug 24:2023.08.22.23294267. doi: 10.1101/2023.08.22.23294267. medRxiv. 2023. Update in: iScience. 2024 May 18;27(6):109984. doi: 10.1016/j.isci.2024.109984 PMID: 37662408 Free PMC article. Updated. Preprint.
Pathway-specific effects of ADSL deficiency on neurodevelopment.
Dutto I, Gerhards J, Herrera A, Souckova O, Škopová V, Smak JA, Junza A, Yanes O, Boeckx C, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH. Dutto I, et al. Among authors: smak ja. Elife. 2022 Feb 8;11:e70518. doi: 10.7554/eLife.70518. Elife. 2022. PMID: 35133277 Free PMC article.
GEMC1 and MCIDAS interactions with SWI/SNF complexes regulate the multiciliated cell-specific transcriptional program.
Lewis M, Terré B, Knobel PA, Cheng T, Lu H, Attolini CS, Smak J, Coyaud E, Garcia-Cao I, Sharma S, Vineethakumari C, Querol J, Gil-Gómez G, Piergiovanni G, Costanzo V, Peiró S, Raught B, Zhao H, Salvatella X, Roy S, Mahjoub MR, Stracker TH. Lewis M, et al. Among authors: smak j. Cell Death Dis. 2023 Mar 17;14(3):201. doi: 10.1038/s41419-023-05720-4. Cell Death Dis. 2023. PMID: 36932059 Free PMC article.
Rational optimization of a transcription factor activation domain inhibitor.
Basu S, Martínez-Cristóbal P, Frigolé-Vivas M, Pesarrodona M, Lewis M, Szulc E, Bañuelos CA, Sánchez-Zarzalejo C, Bielskutė S, Zhu J, Pombo-García K, Garcia-Cabau C, Zodi L, Dockx H, Smak J, Kaur H, Batlle C, Mateos B, Biesaga M, Escobedo A, Bardia L, Verdaguer X, Ruffoni A, Mawji NR, Wang J, Obst JK, Tam T, Brun-Heath I, Ventura S, Meierhofer D, García J, Robustelli P, Stracker TH, Sadar MD, Riera A, Hnisz D, Salvatella X. Basu S, et al. Among authors: smak j. Nat Struct Mol Biol. 2023 Dec;30(12):1958-1969. doi: 10.1038/s41594-023-01159-5. Epub 2023 Dec 4. Nat Struct Mol Biol. 2023. PMID: 38049566 Free PMC article.
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: smak j. iScience. 2024 May 18;27(6):109984. doi: 10.1016/j.isci.2024.109984. eCollection 2024 Jun 21. iScience. 2024. PMID: 38868186 Free PMC article.
[The history of rabies in animals in the Netherlands].
De Rosa M, Stenvers OF, Smak JA. De Rosa M, et al. Among authors: smak ja. Tijdschr Diergeneeskd. 2013 Jul 1;138(7):34-9. Tijdschr Diergeneeskd. 2013. PMID: 23923657 Review. Dutch. No abstract available.
22 results