RHCglo Citations (7)

Originally described in: Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing.
Singh G, Cooper TA Biotechniques. 2006 Aug;41(2):177-81. PubMed Journal

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Articles Citing RHCglo

Articles
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome. Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A, Kaposzta R, Mero G, Nagy A, Orlik B, Kovacs-Paszthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP. Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15. PubMed
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Genes (Basel). 2022 Apr 12;13(4):675. doi: 10.3390/genes13040675. PubMed
HNRNPH1 destabilizes the G-quadruplex structures formed by G-rich RNA sequences that regulate the alternative splicing of an oncogenic fusion transcript. Vo T, Brownmiller T, Hall K, Jones TL, Choudhari S, Grammatikakis I, Ludwig KR, Caplen NJ. Nucleic Acids Res. 2022 Jun 24;50(11):6474-6496. doi: 10.1093/nar/gkac409. PubMed
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Banos-Pinero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Nemeth AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. PubMed
The qMini assay identifies an overlooked class of splice variants. Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, Li H, Goetz K, Blain D, Agather A, Cukras C, Zein WM, Huryn LA, Brooks BP, Hufnagel RB. medRxiv [Preprint]. 2023 Nov 3:2023.11.02.23297963. doi: 10.1101/2023.11.02.23297963. PubMed
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Nemeth AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. PubMed
Alternative splicing of the Snap23 microexon is regulated by MBNL, QKI, and RBFOX2 in a tissue-specific manner and is altered in striated muscle diseases. Gentile GM, Blue RE, Goda GA, Guzman BB, Szymanski RA, Lee EY, Engels NM, Hinkle ER, Wiedner HJ, Bishop AN, Harrison JT, Zhang H, Wehrens XHT, Dominguez D, Giudice J. RNA Biol. 2025 Dec;22(1):1-20. doi: 10.1080/15476286.2025.2491160. Epub 2025 May 6. PubMed

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