Hermansky-Pudlak syndrome is a rare, autosomal, recessive syndromic form of albinism characterized by oculocutaneous albinism, bleeding diathesis, and a series of clinical complications. It is rarely reported in China, even with its large population base. In this study, we describe the clinical ...
产品别名:重组赫曼斯基普德拉克综合征蛋白6(HPS6) Recombinant Hps6 产品介绍 基因名: Hps6 产品别名: 5330434M19Rik; BLOC2; ru; Hps6; HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; Hermansky-Pudlak syndrome 6 protein hom...
为了揭开这些谜团,费城儿童医院的研究人员在《Communications Biology》期刊上发表了一篇名为 “Single cell transcriptomics reveals age-dependent emergence of inflammatory fibroblasts in Hermansky-Pudlak syndrome mouse models” 的论文。通过深入研究,他们发现了 HPS 小鼠肺部炎症性成纤维细胞的奥秘,还找到了一些可能阻...
Hermansky–Pudlak综合征(Hermansky–Pudlak syndrome, HPS)是一种综合症型白化病,主要表现为色素减退、出血倾向以及由溶酶体相关细胞器功能缺陷引起的其他临床表现,例如肺纤维化、结肠炎、免疫相关疾病、神经症状等。目前人群中已鉴定出10种HPS亚型及其致病基因(HPS1~10)。
[3].Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (...
中文名称:赫曼斯基普德拉克综合征蛋白6(HPS6)重组蛋白 中文同义词:赫曼斯基普德拉克综合征蛋白6(HPS6)重组蛋白 英文名称:Recombinant Hermansky Pudlak Syndrome Protein 6 (HPS6) 英文同义词:Recombinant Hermansky Pudlak Syndrome Protein 6 (HPS6) CAS号: ...
Hermansky-Pudlak syndrome comprises a heterogeneous group of disorders characterized by platelet dysfunction, tyrosinase-positive oculocutaneous albinism, and, occasionally, interstitial lung disease, pulmonary fibrosis, and inflammatory colitis. From: Stiehm's Immune Deficiencies, 2014 ...
Overview: Hermansky-Pudlak syndrome (HPS) is a hereditary condition characterized by oculocutaneous albinism and bleeding diathesis. Visual indicators of oculocutaneous albinism include fair or light-colored skin, hair, and eyes. Other symptoms may...
Genes Hermansky-Pudlak syndrome (HPS) can be caused by mutation in one of several genes: HPS1, HPS3, HPS4, HPS5, and HPS6. HPS2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene. HPS7 is caused by mutation in the Gene map locus 22q11.2-...