PubMed (GeneRIF) for id: 261734

Year	Number of Results
2002	2
2005	3
2007	3
2010	3
2011	2
2012	2
2013	1
2014	1
2017	2
2019	1
2020	1
2021	2
2022	1
2023	1
2024	1

1

A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.

Ali A, Unar A, Muhammad Z, Dil S, Zhang B, Sadaf H, Khan M, Ali M, Khan R, Shah KMB, Ma A, Jiang X, Zhang Y, Zhang H, Shi Q. Ali A, et al. J Assist Reprod Genet. 2024 Jan;41(1):109-120. doi: 10.1007/s10815-023-02966-x. Epub 2023 Oct 13. J Assist Reprod Genet. 2024. PMID: 37831349

2

Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study.

Otaki Y, Watanabe T, Sato J, Kobayashi Y, Aono T, Saito Y, Goto J, Takahashi H, Arimoto T, Sato H, Konta T, Ueno Y, Watanabe M. Otaki Y, et al. Heart Vessels. 2022 Apr;37(4):673-682. doi: 10.1007/s00380-021-01953-5. Epub 2021 Sep 30. Heart Vessels. 2022. PMID: 34591160

3

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.

Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y, Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E, Sharon D, Khateb S. Yahalom C, et al. Retina. 2021 Oct 1;41(10):2179-2187. doi: 10.1097/IAE.0000000000003138. Retina. 2021. PMID: 33512896

4

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

Hudson R, Patel C, Hawley CM, O'Shea S, Snelling P, Ho G, Holman K, Bennetts B, Crawford J, Francis L, Simons C, Mallett A. Hudson R, et al. Am J Kidney Dis. 2020 Aug;76(2):282-287. doi: 10.1053/j.ajkd.2019.08.031. Epub 2019 Dec 4. Am J Kidney Dis. 2020. PMID: 31810733 Free article.

5

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

6

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling.

Schou KB, Mogensen JB, Morthorst SK, Nielsen BS, Aleliunaite A, Serra-Marques A, Fürstenberg N, Saunier S, Bizet AA, Veland IR, Akhmanova A, Christensen ST, Pedersen LB. Schou KB, et al. Nat Commun. 2017 Jan 30;8:14177. doi: 10.1038/ncomms14177. Nat Commun. 2017. PMID: 28134340 Free PMC article.

7

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.

Alazami AM, Alshammari MJ, Baig M, Salih MA, Hassan HH, Alkuraya FS. Alazami AM, et al. Clin Genet. 2014 Apr;85(4):371-5. doi: 10.1111/cge.12160. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23574405

8

The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling.

Borgal L, Habbig S, Hatzold J, Liebau MC, Dafinger C, Sacarea I, Hammerschmidt M, Benzing T, Schermer B. Borgal L, et al. J Biol Chem. 2012 Jul 20;287(30):25370-80. doi: 10.1074/jbc.M112.385658. Epub 2012 May 31. J Biol Chem. 2012. PMID: 22654112 Free PMC article.

9

NPHP4 variants are associated with pleiotropic heart malformations.

French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM. French VM, et al. Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1. Circ Res. 2012. PMID: 22550138 Free PMC article.

10

NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway.

Habbig S, Bartram MP, Müller RU, Schwarz R, Andriopoulos N, Chen S, Sägmüller JG, Hoehne M, Burst V, Liebau MC, Reinhardt HC, Benzing T, Schermer B. Habbig S, et al. J Cell Biol. 2011 May 16;193(4):633-42. doi: 10.1083/jcb.201009069. Epub 2011 May 9. J Cell Biol. 2011. PMID: 21555462 Free PMC article.

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