PubMed for id: 1732746329

Year	Number of Results
1986	1
1991	1
1993	1
1996	2
1997	1
2002	1
2009	1
2023	3
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

Chediak-Higashi Syndrome.

Toro C, Morimoto M, Malicdan MC, Adams DR, Introne WJ. Toro C, et al. 2009 Mar 3 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Mar 3 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301751 Free Books & Documents. Review.

5

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E, Vierimaa O, Spritz RA. Karim MA, et al. Am J Med Genet. 2002 Feb 15;108(1):16-22. Am J Med Genet. 2002. PMID: 11857544

6

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF. Barbosa MD, et al. Hum Mol Genet. 1997 Jul;6(7):1091-8. doi: 10.1093/hmg/6.7.1091. Hum Mol Genet. 1997. PMID: 9215680 Free PMC article.

7

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. Nagle DL, et al. Nat Genet. 1996 Nov;14(3):307-11. doi: 10.1038/ng1196-307. Nat Genet. 1996. PMID: 8896560

8

Identification of the homologous beige and Chediak-Higashi syndrome genes.

Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF. Barbosa MD, et al. Nature. 1996 Jul 18;382(6588):262-5. doi: 10.1038/382262a0. Nature. 1996. PMID: 8717042 Free PMC article.

9

Chediak-Higashi syndrome: immunological responses to Epstein-Barr virus studies in gene heterozygotes.

Merino F, Amesty C, Henle W, Layrisse Z, Bianco N, Ramírez-Duque P. Merino F, et al. J Clin Immunol. 1986 May;6(3):242-8. doi: 10.1007/BF00918704. J Clin Immunol. 1986. PMID: 3013924

10

Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.

Jenkins NA, Justice MJ, Gilbert DJ, Chu ML, Copeland NG. Jenkins NA, et al. Genomics. 1991 Feb;9(2):401-3. doi: 10.1016/0888-7543(91)90275-j. Genomics. 1991. PMID: 1672300 No abstract available.

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