PubMed for id: 57479

Year	Number of Results
1996	1
1999	1
2000	1
2002	1
2004	1
2006	1
2011	1
2012	1
2014	2
2015	4
2016	1
2017	1
2018	8
2019	4
2020	3
2021	7
2022	6
2023	1
2024	2

1

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.

2

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.

3

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W. Leduc MS, et al. Hum Genet. 2018 Mar;137(3):257-264. doi: 10.1007/s00439-018-1877-0. Epub 2018 Mar 19. Hum Genet. 2018. PMID: 29556724

4

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.

Córdova-Fletes C, Domínguez MG, Delint-Ramirez I, Martínez-Rodríguez HG, Rivas-Estilla AM, Barros-Núñez P, Ortiz-López R, Neira VA. Córdova-Fletes C, et al. Neurogenetics. 2015 Oct;16(4):287-98. doi: 10.1007/s10048-015-0452-2. Epub 2015 Jul 11. Neurogenetics. 2015. PMID: 26163108

5

The Dual Estrogen Receptor α Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety.

Han SJ, Begum K, Foulds CE, Hamilton RA, Bailey S, Malovannaya A, Chan D, Qin J, O'Malley BW. Han SJ, et al. Mol Pharmacol. 2016 Jan;89(1):14-26. doi: 10.1124/mol.115.100925. Epub 2015 Oct 20. Mol Pharmacol. 2016. PMID: 26487511 Free PMC article.

6

The shieldin complex mediates 53BP1-dependent DNA repair.

Noordermeer SM, Adam S, Setiaputra D, Barazas M, Pettitt SJ, Ling AK, Olivieri M, Álvarez-Quilón A, Moatti N, Zimmermann M, Annunziato S, Krastev DB, Song F, Brandsma I, Frankum J, Brough R, Sherker A, Landry S, Szilard RK, Munro MM, McEwan A, Goullet de Rugy T, Lin ZY, Hart T, Moffat J, Gingras AC, Martin A, van Attikum H, Jonkers J, Lord CJ, Rottenberg S, Durocher D. Noordermeer SM, et al. Nature. 2018 Aug;560(7716):117-121. doi: 10.1038/s41586-018-0340-7. Epub 2018 Jul 18. Nature. 2018. PMID: 30022168 Free PMC article.

7

Identification of the SOX2 Interactome by BioID Reveals EP300 as a Mediator of SOX2-dependent Squamous Differentiation and Lung Squamous Cell Carcinoma Growth.

Kim BR, Coyaud E, Laurent EMN, St-Germain J, Van de Laar E, Tsao MS, Raught B, Moghal N. Kim BR, et al. Mol Cell Proteomics. 2017 Oct;16(10):1864-1888. doi: 10.1074/mcp.M116.064451. Epub 2017 Aug 9. Mol Cell Proteomics. 2017. PMID: 28794006 Free PMC article.

8

Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O. Nagase T, et al. DNA Res. 1999 Oct 29;6(5):337-45. doi: 10.1093/dnares/6.5.337. DNA Res. 1999. PMID: 10574462 Free article.

9

The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation.

Nelson CB, Rogers S, Roychoudhury K, Tan YS, Atkinson CJ, Sobinoff AP, Tomlinson CG, Hsu A, Lu R, Dray E, Haber M, Fletcher JI, Cesare AJ, Hegde RS, Pickett HA. Nelson CB, et al. Nat Commun. 2024 Feb 15;15(1):1385. doi: 10.1038/s41467-024-45683-4. Nat Commun. 2024. PMID: 38360978 Free PMC article.

10

An inducible CRISPR/Cas9 screen identifies DTX2 as a transcriptional regulator of human telomerase.

Zhou Z, Li Y, Xu H, Xie X, He Z, Lin S, Li R, Jin S, Cui J, Hu H, Liu F, Wu S, Ma W, Songyang Z. Zhou Z, et al. iScience. 2022 Jan 25;25(2):103813. doi: 10.1016/j.isci.2022.103813. eCollection 2022 Feb 18. iScience. 2022. PMID: 35198878 Free PMC article.

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