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Haploinsufficiency of phosphodiesterase 10A activates PI3K/AKT signaling independent of PTEN to induce an aggressive glioma phenotype.
Nuechterlein N, Shelbourn A, Szulzewsky F, Arora S, Casad M, Pattwell S, Merino-Galan L, Sulman E, Arowa S, Alvinez N, Jung M, Brown D, Tang K, Jackson S, Stoica S, Chittaboina P, Banasavadi-Siddegowda YK, Wirsching HG, Stella N, Shapiro L, Paddison P, Patel AP, Gilbert MR, Abdullaev Z, Aldape K, Pratt D, Holland EC, Cimino PJ. Nuechterlein N, et al. Among authors: chittaboina p. Genes Dev. 2024 Apr 17;38(5-6):273-288. doi: 10.1101/gad.351350.123. Genes Dev. 2024. PMID: 38589034 Free PMC article.
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.
Vocke CD, Ricketts CJ, Pack S, Raffeld M, Hewitt S, Lebensohn AP, O'Brien L, Gautam R, Reynolds K, Schmidt LS, Choo K, Kenigsberg A, Gurram S, Chew EY, Nilubol N, Chittaboina P, Merino MJ, Ball MW, Linehan WM. Vocke CD, et al. Among authors: chittaboina p. J Med Genet. 2024 Oct 23;61(11):1026-1030. doi: 10.1136/jmg-2024-110202. J Med Genet. 2024. PMID: 39317422 Free PMC article.