PubMed (GeneRIF) for id: 1130

Year	Number of Results
2002	2
2003	1
2005	1
2008	1
2010	1
2011	1
2013	1
2014	5
2015	2
2016	2
2017	3
2018	1
2019	1
2020	1
2021	1
2022	1
2023	2
2024	2

1

Lysosomal trafficking regulator restricts intracellular growth of Coxiella burnetii by inhibiting the expansion of Coxiella-containing vacuole and upregulating nos2 expression.

Wan W, Zhang S, Zhao M, OuYang X, Yu Y, Xiong X, Zhao N, Jiao J. Wan W, et al. Front Cell Infect Microbiol. 2024 Jan 11;13:1336600. doi: 10.3389/fcimb.2023.1336600. eCollection 2023. Front Cell Infect Microbiol. 2024. PMID: 38282619 Free PMC article.

2

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV. Morimoto M, et al. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Review.

3

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Serra-Vinardell J, Sandler MB, De Pace R, Manzella-Lapeira J, Cougnoux A, Keyvanfar K, Introne WJ, Brzostowski JA, Ward ME, Gahl WA, Sharma P, Malicdan MCV. Serra-Vinardell J, et al. Cell Mol Life Sci. 2023 Jan 28;80(2):53. doi: 10.1007/s00018-023-04695-x. Cell Mol Life Sci. 2023. PMID: 36707427

4

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. J Hum Genet. 2022 Feb;67(2):119-121. doi: 10.1038/s10038-021-00977-z. Epub 2021 Sep 6. J Hum Genet. 2022. PMID: 34483340

5

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

Song Y, Dong Z, Luo S, Yang J, Lu Y, Gao B, Fan T. Song Y, et al. BMC Med Genet. 2020 Jan 6;21(1):4. doi: 10.1186/s12881-019-0922-8. BMC Med Genet. 2020. PMID: 31906877 Free PMC article.

6

[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].

Wang M, Qu LJ, Wang J, Chen TP, Li Y, Xu Z, Cheng J, Wang CJ, Gao S, Lu YJ. Wang M, et al. Zhonghua Er Ke Za Zhi. 2019 Dec 2;57(12):963-965. doi: 10.3760/cma.j.issn.0578-1310.2019.12.015. Zhonghua Er Ke Za Zhi. 2019. PMID: 31795567 Chinese.

7

[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].

Zhao J, Wang Z, Zhang L, Sun H, Yang Y. Zhao J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):188-192. doi: 10.3760/cma.j.issn.1003-9406.2018.02.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29652989 Chinese.

8

The driver landscape of sporadic chordoma.

Tarpey PS, Behjati S, Young MD, Martincorena I, Alexandrov LB, Farndon SJ, Guzzo C, Hardy C, Latimer C, Butler AP, Teague JW, Shlien A, Futreal PA, Shah S, Bashashati A, Jamshidi F, Nielsen TO, Huntsman D, Baumhoer D, Brandner S, Wunder J, Dickson B, Cogswell P, Sommer J, Phillips JJ, Amary MF, Tirabosco R, Pillay N, Yip S, Stratton MR, Flanagan AM, Campbell PJ. Tarpey PS, et al. Nat Commun. 2017 Oct 12;8(1):890. doi: 10.1038/s41467-017-01026-0. Nat Commun. 2017. PMID: 29026114 Free PMC article.

9

DNA methylation signatures and coagulation factors in the peripheral blood leucocytes of epithelial ovarian cancer.

Li L, Zheng H, Huang Y, Huang C, Zhang S, Tian J, Li P, Sood AK, Zhang W, Chen K. Li L, et al. Carcinogenesis. 2017 Aug 1;38(8):797-805. doi: 10.1093/carcin/bgx057. Carcinogenesis. 2017. PMID: 28637314 Free PMC article.

10

Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study.

Xu XJ, Wang HS, Ju XL, Xiao PF, Xiao Y, Xue HM, Shi HY, Gao YJ, Jia GC, Li XR, Zhao WH, Wang NL, Tang YM; Histiocytosis Study Group of the Chinese Pediatric Society. Xu XJ, et al. Pediatr Blood Cancer. 2017 Apr;64(4). doi: 10.1002/pbc.26264. Epub 2016 Oct 26. Pediatr Blood Cancer. 2017. PMID: 27781387

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