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Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis.在一例伴有肺纤维化的Hermansky-Pudlak综合征患者中检测到HPS1 mRNA的新型变异。
Sarcoidosis Vasc Diffuse Lung Dis. 2004 Mar;21(1):78-9.
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[Familial pulmonary fibrosis in 2 Mexican sisters with Hermansky-Pudlak syndrome].[两名患有Hermansky-Pudlak综合征的墨西哥姐妹中的家族性肺纤维化]
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Hermansky-Pudlak syndrome with a novel genetic variant in and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.Hermansky-Pudlak 综合征伴 基因新型变异及随后的肺纤维化加速：对表型模拟疾病的意义。
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Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.半乳糖凝集素-3 的失调。对 Hermansky-Pudlak 综合征肺纤维化的影响。
Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC.
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Shared mechanisms of lung injury and subsequent fibrosis: role of surfactant proteins in the pathogenesis of interstitial pneumonia in Hermansky-Pudlak Syndrome.肺损伤及后续纤维化的共同机制：表面活性蛋白在Hermansky-Pudlak综合征间质性肺炎发病机制中的作用
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Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome.成功实施双侧肺移植治疗与Hermansky-Pudlak综合征相关的肺纤维化。
J Heart Lung Transplant. 2005 Oct;24(10):1697-9. doi: 10.1016/j.healun.2004.11.015.
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Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells.利用源自人类多能干细胞的 3D 类器官模型构建肺纤维化疾病。
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BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.BLOC-3 突变导致 Hermansky-Pudlak 综合征，是一种 Rab32/38 鸟嘌呤核苷酸交换因子。
Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020. Epub 2012 Oct 18.
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In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.通过慢病毒介导的基因转移对1型Hermansky-Pudlak综合征进行体外功能校正。
Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.
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Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.从遗传病角度洞察肺纤维化的发病机制。
Am J Respir Cell Mol Biol. 2022 Jul;67(1):20-35. doi: 10.1165/rcmb.2021-0557TR.
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Update in Interstitial Lung Disease 2019.2019年间质性肺疾病的进展
Am J Respir Crit Care Med. 2020 Aug 15;202(4):500-507. doi: 10.1164/rccm.202002-0360UP.
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Hermansky-Pudlak syndrome: Mutation update.赫尔曼斯基-普德拉克综合征：突变更新
Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23.
本文引用的文献
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Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database.ENU 诱导突变在 Mutagenetix 数据库中表型可检测蛋白质损伤的概率。
Nat Commun. 2018 Jan 30;9(1):441. doi: 10.1038/s41467-017-02806-4.
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Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.特发性肺纤维化合并 Hermansky-Pudlak 综合征。
Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR.
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Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis.遗传研究为特发性肺纤维化的发病机制提供了线索。
Dis Model Mech. 2013 Jan;6(1):9-17. doi: 10.1242/dmm.010736.
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A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).溶酶体相关细胞器生物发生复合体3（BLOC-3）的形成需要HPS1和HPS4之间的二价相互作用。
Biochim Biophys Acta. 2013 Mar;1833(3):468-78. doi: 10.1016/j.bbamcr.2012.10.019. Epub 2012 Oct 23.
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BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.BLOC-3 突变导致 Hermansky-Pudlak 综合征，是一种 Rab32/38 鸟嘌呤核苷酸交换因子。
Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020. Epub 2012 Oct 18.
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BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.BLOC-3，一种包含赫尔曼斯基-普德拉克综合征基因产物HPS1和HPS4的蛋白质复合物。
J Biol Chem. 2003 Aug 1;278(31):29376-84. doi: 10.1074/jbc.M301294200. Epub 2003 May 19.
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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.一种细胞质细胞器疾病——赫尔曼斯基-普德拉克综合征相关基因的定位克隆
Nat Genet. 1996 Nov;14(3):300-6. doi: 10.1038/ng1196-300.
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