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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2008 1
2011 1
2014 1
2015 2
2017 3
2018 3
2019 2
2021 1
2022 3
2023 1
2024 0

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PubMed (GeneRIF) for id: 55898

17 results

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Page 1
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A. Almaas R, et al. J Hepatol. 2023 Oct;79(4):945-954. doi: 10.1016/j.jhep.2023.05.037. Epub 2023 Jun 14. J Hepatol. 2023. PMID: 37328071 Free article.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. Duclaux-Loras R, et al. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
The co-chaperone UNC45A is essential for the expression of mitotic kinase NEK7 and tumorigenesis.
Eisa NH, Jilani Y, Kainth K, Redd P, Lu S, Bougrine O, Abdul Sater H, Patwardhan CA, Shull A, Shi H, Liu K, Elsherbiny NM, Eissa LA, El-Shishtawy MM, Horuzsko A, Bollag R, Maihle N, Roig J, Korkaya H, Cowell JK, Chadli A. Eisa NH, et al. J Biol Chem. 2019 Apr 5;294(14):5246-5260. doi: 10.1074/jbc.RA118.006597. Epub 2019 Feb 8. J Biol Chem. 2019. PMID: 30737284 Free PMC article.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
UNC-45a promotes myosin folding and stress fiber assembly.
Lehtimäki JI, Fenix AM, Kotila TM, Balistreri G, Paavolainen L, Varjosalo M, Burnette DT, Lappalainen P. Lehtimäki JI, et al. J Cell Biol. 2017 Dec 4;216(12):4053-4072. doi: 10.1083/jcb.201703107. Epub 2017 Oct 20. J Cell Biol. 2017. PMID: 29055011 Free PMC article.
17 results