PubMed (GeneRIF) for id: 27031

Year	Number of Results
2003	1
2007	1
2008	1
2009	2
2010	1
2011	1
2013	2
2014	1
2016	1
2017	2
2019	1
2020	1
2021	1
2022	1
2024	0

1

HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition.

Lee JW, Cho JY, Thuy PX, Moon EY. Lee JW, et al. Int J Mol Sci. 2022 Nov 22;23(23):14500. doi: 10.3390/ijms232314500. Int J Mol Sci. 2022. PMID: 36498831 Free PMC article.

2

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA. Olinger E, et al. Hum Mutat. 2021 Oct;42(10):1221-1228. doi: 10.1002/humu.24251. Epub 2021 Jul 26. Hum Mutat. 2021. PMID: 34212438 Free PMC article.

3

Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.

Yue Z, Lin H, Li M, Wang H, Liu T, Hu M, Chen H, Tong H, Sun L. Yue Z, et al. Clin Chim Acta. 2020 Jul;506:136-144. doi: 10.1016/j.cca.2020.03.015. Epub 2020 Mar 12. Clin Chim Acta. 2020. PMID: 32173348

4

Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells.

Lee JW, Kim HS, Moon EY. Lee JW, et al. Sci Rep. 2019 May 2;9(1):6849. doi: 10.1038/s41598-019-43235-1. Sci Rep. 2019. PMID: 31048733 Free PMC article.

5

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

Abdullah U, Farooq M, Fatima A, Tauseef W, Sarwar Y, Nuri M, Tommerup N, Baig SM. Abdullah U, et al. Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097. Nephrology (Carlton). 2017. PMID: 28921755 Review.

6

A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.

Penchev V, Boueva A, Kamenarova K, Roussinov D, Tzveova R, Ivanova M, Dimitrova V, Kremensky I, Mitev V, Kaneva R, Beltcheva O. Penchev V, et al. Eur J Med Genet. 2017 Jun;60(6):321-325. doi: 10.1016/j.ejmg.2017.04.002. Epub 2017 Apr 6. Eur J Med Genet. 2017. PMID: 28392475

7

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

Sun L, Tong H, Wang H, Yue Z, Liu T, Lin H, Li J, Wang C. Sun L, et al. Nephrology (Carlton). 2016 Mar;21(3):209-16. doi: 10.1111/nep.12563. Nephrology (Carlton). 2016. PMID: 26184788

8

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.

Leeman KT, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal PB. Leeman KT, et al. J Perinatol. 2014 May;34(5):410-1. doi: 10.1038/jp.2014.20. J Perinatol. 2014. PMID: 24776604

9

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.

10

Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.

Copelovitch L, O'Brien MM, Guttenberg M, Otto EA, Kaplan BS. Copelovitch L, et al. Am J Med Genet A. 2013 Jul;161A(7):1743-9. doi: 10.1002/ajmg.a.35958. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686967

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