PubMed for id: 419514

Year	Number of Results
1980	1
1984	1
1985	1
1988	1
1990	3
1992	1
1993	1
1995	1
1996	1
1997	2
1998	4
1999	4
2000	10
2001	8
2002	10
2003	9
2004	9
2005	17
2006	8
2007	9
2008	7
2009	9
2010	7
2011	9
2012	3
2013	12
2014	15
2015	6
2016	17
2017	13
2018	15
2019	18
2020	15
2021	18
2022	12
2023	5

1

Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism.

Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L, Aschenbrenner D, Kim-Schulze S, Lam YK, Berridge G, McGovern DPB, Kessler B, Fischer R, Klenerman P, Hester J, Issa F, Torres EA, Powrie F, Gochuico BR, Gahl WA, Cohen L, Uhlig HH. Cavounidis A, et al. Mucosal Immunol. 2022 Jun;15(6):1431-1446. doi: 10.1038/s41385-022-00572-1. Epub 2022 Oct 27. Mucosal Immunol. 2022. PMID: 36302964 Free PMC article.

2

Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish.

Iwanami N, Ozaki Y, Sakaguchi H, Watanabe Y, Meng Q, Matsumoto K, Suzuki T, Hitomi K, Matsuda M. Iwanami N, et al. G3 (Bethesda). 2022 Sep 30;12(10):jkac204. doi: 10.1093/g3journal/jkac204. G3 (Bethesda). 2022. PMID: 35944207 Free PMC article.

3

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H, Amar A, Latif MZ, Qureshi MA, Mahmood S. Shakil M, et al. Genes (Basel). 2022 Mar 12;13(3):503. doi: 10.3390/genes13030503. Genes (Basel). 2022. PMID: 35328057 Free PMC article.

4

Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease.

Bacci M, Ferretti A, Marchetti M, Alberelli MA, Falanga A, Lodigiani C, De Candia E. Bacci M, et al. Blood Transfus. 2022 Sep;20(5):420-432. doi: 10.2450/2021.0119-21. Epub 2022 Jan 8. Blood Transfus. 2022. PMID: 34369869 Free PMC article. Review.

5

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

Wang C, Shi P, Li Q, Chen C, Zhao X, Zhang R, Kong X. Wang C, et al. Eur J Med Genet. 2021 Jun;64(6):104228. doi: 10.1016/j.ejmg.2021.104228. Epub 2021 Apr 18. Eur J Med Genet. 2021. PMID: 33878481

6

Hp-s1 Ganglioside Suppresses Proinflammatory Responses by Inhibiting MyD88-Dependent NF-κB and JNK/p38 MAPK Pathways in Lipopolysaccharide-Stimulated Microglial Cells.

Shih JH, Tsai YF, Li IH, Chen MH, Huang YS. Shih JH, et al. Mar Drugs. 2020 Sep 29;18(10):496. doi: 10.3390/md18100496. Mar Drugs. 2020. PMID: 33003399 Free PMC article.

7

Platelet δ-Storage Pool Disease: An Update.

Dupuis A, Bordet JC, Eckly A, Gachet C. Dupuis A, et al. J Clin Med. 2020 Aug 4;9(8):2508. doi: 10.3390/jcm9082508. J Clin Med. 2020. PMID: 32759727 Free PMC article. Review.

8

Spontaneous Intracerebral Hemorrhage Due to Delta Storage Pool Disease in a Patient on a Serotonin-Norepinephrine Reuptake Inhibitor.

Leibetseder A, Wagner J, Tomasits J, Haring HP, Hutterer M, Trenkler J, von Oertzen TJ. Leibetseder A, et al. Front Neurol. 2019 Nov 26;10:1257. doi: 10.3389/fneur.2019.01257. eCollection 2019. Front Neurol. 2019. PMID: 31849820 Free PMC article.

9

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Doubková M, Trizuljak J, Vrzalová Z, Hrazdirová A, Blaháková I, Radová L, Pospíšilová Š, Doubek M. Doubková M, et al. BMC Pulm Med. 2019 Oct 16;19(1):178. doi: 10.1186/s12890-019-0941-4. BMC Pulm Med. 2019. PMID: 31619213 Free PMC article.

10

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG. McElvaney OJ, et al. Thorax. 2018 Nov;73(11):1085-1088. doi: 10.1136/thoraxjnl-2018-211920. Epub 2018 Jun 25. Thorax. 2018. PMID: 29941477 Free PMC article.

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