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2008 1
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2011 4
2012 1
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2020 5
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2023 5
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34 results

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Page 1
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: iwaszkiewicz j. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: iwaszkiewicz j. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
Influenza A virus exploits transferrin receptor recycling to enter host cells.
Mazel-Sanchez B, Niu C, Williams N, Bachmann M, Choltus H, Silva F, Serre-Beinier V, Karenovics W, Iwaszkiewicz J, Zoete V, Kaiser L, Hartley O, Wehrle-Haller B, Schmolke M. Mazel-Sanchez B, et al. Among authors: iwaszkiewicz j. Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2214936120. doi: 10.1073/pnas.2214936120. Epub 2023 May 16. Proc Natl Acad Sci U S A. 2023. PMID: 37192162 Free PMC article.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Among authors: iwaszkiewicz j. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
Disulfide-Linked Peptides for Blocking BTLA/HVEM Binding.
Spodzieja M, Kuncewicz K, Sieradzan A, Karczyńska A, Iwaszkiewicz J, Cesson V, Węgrzyn K, Zhukov I, Maszota-Zieleniak M, Michielin O, Speiser DE, Zoete V, Derré L, Rodziewicz-Motowidło S. Spodzieja M, et al. Among authors: iwaszkiewicz j. Int J Mol Sci. 2020 Jan 18;21(2):636. doi: 10.3390/ijms21020636. Int J Mol Sci. 2020. PMID: 31963646 Free PMC article.
Actin assembly requirements of the formin Fus1 to build the fusion focus.
Billault-Chaumartin I, Michon L, Anderson CA, Yde SE, Suarez C, Iwaszkiewicz J, Zoete V, Kovar DR, Martin SG. Billault-Chaumartin I, et al. Among authors: iwaszkiewicz j. J Cell Sci. 2022 Jul 1;135(13):jcs260289. doi: 10.1242/jcs.260289. Epub 2022 Jul 8. J Cell Sci. 2022. PMID: 35673994 Free PMC article.
Allosteric activation of MALT1 by its ubiquitin-binding Ig3 domain.
Schairer R, Hall G, Zhang M, Cowan R, Baravalle R, Muskett FW, Coombs PJ, Mpamhanga C, Hale LR, Saxty B, Iwaszkiewicz J, Décaillet C, Perroud M, Carr MD, Thome M. Schairer R, et al. Among authors: iwaszkiewicz j. Proc Natl Acad Sci U S A. 2020 Feb 11;117(6):3093-3102. doi: 10.1073/pnas.1912681117. Epub 2020 Jan 24. Proc Natl Acad Sci U S A. 2020. PMID: 31980531 Free PMC article.
Influenza A viruses balance ER stress with host protein synthesis shutoff.
Mazel-Sanchez B, Iwaszkiewicz J, Bonifacio JPP, Silva F, Niu C, Strohmeier S, Eletto D, Krammer F, Tan G, Zoete V, Hale BG, Schmolke M. Mazel-Sanchez B, et al. Among authors: iwaszkiewicz j. Proc Natl Acad Sci U S A. 2021 Sep 7;118(36):e2024681118. doi: 10.1073/pnas.2024681118. Proc Natl Acad Sci U S A. 2021. PMID: 34479996 Free PMC article.
34 results