PubMed (GeneRIF) for id: 57728

Year	Number of Results
2003	1
2008	1
2011	1
2013	2
2014	1
2015	1
2017	1
2020	1
2021	1
2023	2
2024	0

1

Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.

Yu JH, Kim JH, Soung NK, Moon EY, Koo JH. Yu JH, et al. Biochem Biophys Res Commun. 2023 Nov 12;681:186-193. doi: 10.1016/j.bbrc.2023.09.082. Epub 2023 Sep 27. Biochem Biophys Res Commun. 2023. PMID: 37783116

2

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Sajovic J, Meglič A, Volk M, Maver A, Jarc-Vidmar M, Hawlina M, Fakin A. Sajovic J, et al. Genes (Basel). 2023 Jan 22;14(2):291. doi: 10.3390/genes14020291. Genes (Basel). 2023. PMID: 36833218 Free PMC article.

3

Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.

Ishida Y, Kobayashi T, Chiba S, Katoh Y, Nakayama K. Ishida Y, et al. Hum Mol Genet. 2021 Apr 26;30(3-4):213-225. doi: 10.1093/hmg/ddab034. Hum Mol Genet. 2021. PMID: 33517396

4

A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.

Ni X, Wang J, Lv M, Liu C, Zhong Y, Tian S, Wu H, Cheng H, Gao Y, Tan Q, Chen B, Li Q, Song B, Wei Z, Zhou P, He X, Zhang F, Cao Y. Ni X, et al. J Assist Reprod Genet. 2020 Jun;37(6):1431-1439. doi: 10.1007/s10815-020-01770-1. Epub 2020 Apr 23. J Assist Reprod Genet. 2020. PMID: 32323121 Free PMC article.

5

Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.

Yoshikawa T, Kamei K, Nagata H, Saida K, Sato M, Ogura M, Ito S, Miyazaki O, Urushihara M, Kondo S, Sugawara N, Ishizuka K, Hamasaki Y, Shishido S, Morisada N, Iijima K, Nagata M, Yoshioka T, Ogata K, Ishikura K. Yoshikawa T, et al. Nephrology (Carlton). 2017 Jul;22(7):566-571. doi: 10.1111/nep.12996. Nephrology (Carlton). 2017. PMID: 28621010

6

Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Lee JM, Ahn YH, Kang HG, Ha II, Lee K, Moon KC, Lee JH, Park YS, Cho YM, Bae JS, Kim NK, Park WY, Cheong HI. Lee JM, et al. Pediatr Nephrol. 2015 Sep;30(9):1451-8. doi: 10.1007/s00467-015-3068-8. Epub 2015 Mar 1. Pediatr Nephrol. 2015. PMID: 25726036

7

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.

Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C. Fehrenbach H, et al. Pediatr Nephrol. 2014 Aug;29(8):1451-6. doi: 10.1007/s00467-014-2762-2. Epub 2014 Feb 7. Pediatr Nephrol. 2014. PMID: 24504730

8

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK. Coussa RG, et al. Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196. Clin Genet. 2013. PMID: 23683095 Free PMC article.

9

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group. Halbritter J, et al. Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5. Hum Genet. 2013. PMID: 23559409 Free PMC article.

10

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Bredrup C, et al. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019273 Free PMC article.

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