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The nucleoporin Nup50 activates the Ran guanine nucleotide exchange factor RCC1 to promote NPC assembly at the end of mitosis.
Holzer G, De Magistris P, Gramminger C, Sachdev R, Magalska A, Schooley A, Scheufen A, Lennartz B, Tatarek-Nossol M, Lue H, Linder MI, Kutay U, Preisinger C, Moreno-Andres D, Antonin W. Holzer G, et al. Among authors: sachdev r. EMBO J. 2021 Dec 1;40(23):e108788. doi: 10.15252/embj.2021108788. Epub 2021 Nov 2. EMBO J. 2021. PMID: 34725842 Free PMC article.
RuvB-like ATPases function in chromatin decondensation at the end of mitosis.
Magalska A, Schellhaus AK, Moreno-Andrés D, Zanini F, Schooley A, Sachdev R, Schwarz H, Madlung J, Antonin W. Magalska A, et al. Among authors: sachdev r. Dev Cell. 2014 Nov 10;31(3):305-318. doi: 10.1016/j.devcel.2014.09.001. Epub 2014 Oct 23. Dev Cell. 2014. PMID: 25443297 Free 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: sachdev r. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: sachdev r. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.
310 results