PubMed for id: 57338

Year	Number of Results
1993	2
1997	1
2000	2
2001	3
2002	2
2003	3
2004	4
2005	1
2006	1
2007	2
2008	3
2009	3
2010	3
2011	3
2012	3
2013	1
2014	1
2015	2
2016	2
2017	3
2019	2
2020	3
2021	1
2022	3
2023	1
2024	0

1

Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.

Steel D, Vezyroglou A, Barwick K, Smith M, Vogt J, Gibbon FM, Cross JH, Kurian MA. Steel D, et al. Mov Disord. 2023 Jan;38(1):155-157. doi: 10.1002/mds.29250. Epub 2022 Oct 23. Mov Disord. 2023. PMID: 36273396 Free PMC article. No abstract available.

2

Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers.

Hu X, Kuang Y, Li L, Tang H, Shi Q, Shu X, Zhang Y, Chan FK, Tao Q, He C. Hu X, et al. Theranostics. 2017 May 30;7(7):2150-2163. doi: 10.7150/thno.18185. eCollection 2017. Theranostics. 2017. PMID: 28656064 Free PMC article.

3

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, Peuvion JN, Bachoud-Levi AC, Brice A, Stevanin G, Durr A. Mariani LL, et al. JAMA Neurol. 2016 Sep 1;73(9):1105-14. doi: 10.1001/jamaneurol.2016.2215. JAMA Neurol. 2016. PMID: 27400454

4

JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family.

Schneider SA, Marshall KE, Xiao J, LeDoux MS. Schneider SA, et al. Neurogenetics. 2012 May;13(2):133-40. doi: 10.1007/s10048-012-0318-9. Epub 2012 Mar 25. Neurogenetics. 2012. PMID: 22447335 Free PMC article.

5

An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.

Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW. Wilburn B, et al. Neuron. 2011 May 12;70(3):427-40. doi: 10.1016/j.neuron.2011.03.021. Neuron. 2011. PMID: 21555070 Free PMC article.

6

Huntington's disease-like 2 in Brazil--report of 4 patients.

Rodrigues GG, Walker RH, Brice A, Cazeneuve C, Russaouen O, Teive HA, Munhoz RP, Becker N, Raskin S, Werneck LC, Junior WM, Tumas V. Rodrigues GG, et al. Mov Disord. 2008 Nov 15;23(15):2244-7. doi: 10.1002/mds.22223. Mov Disord. 2008. PMID: 18816802

7

A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.

Bardien S, Abrahams F, Soodyall H, van der Merwe L, Greenberg J, Brink T, Carr J. Bardien S, et al. Mov Disord. 2007 Oct 31;22(14):2083-9. doi: 10.1002/mds.21672. Mov Disord. 2007. PMID: 17708569

8

JP-3 gene polymorphism in a healthy population of Serbia and Montenegro.

Keckarević M, Savić D, Romac S. Keckarević M, et al. J Genet. 2005 Apr;84(1):69-71. doi: 10.1007/BF02715892. J Genet. 2005. PMID: 15876586 Free article.

9

Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion.

Li L, Pan ZF, Huang X, Wu BW, Li T, Kang MX, Ge RS, Hu XY, Zhang YH, Ge LJ, Zhu DY, Wu YL, Lou YJ. Li L, et al. Cell Death Dis. 2016 Jun 23;7(6):e2275. doi: 10.1038/cddis.2016.179. Cell Death Dis. 2016. PMID: 27336719 Free PMC article.

10

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Krause A, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26079385 Free PMC article.

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