Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 113: 10-17, 2003.Anderson, P.D.; Huizing, M.; Claassen, D.A.; White, J.; Gahl, W.A. Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics. Hum. Genet. 2003, 113...
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related... Hermansky-Pudlak syndrome (HPS) is a genetic disease of lysosome, melanosome, and granule biogenesis. Mutations of six different loc...
[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 (...
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...
HPS4基因位于人类染色体22上,突变会导致Hermansky-Pudlak综合征的发生。Hermansky-Pudlak综合征是一种罕见的遗传性疾病,主要特征包括血小板功能异常、视网膜色素变性、肺纤维化和皮肤色素沉着等。 HPS4相关Hermansky-Pudlak综合征(Hermansky-Pudlak Syndrome, HPS4-Related)基因检测机构 HPS4基因检测可以通过一些专业的...
网络释义 1. 氏综合征 检索:海普二氏综合征(Hermansky-Pudlak-syndrome)检索词是:海普二氏综合征或者Hermansky-Pudlak-syndrome 截词 …www.kjebm.com|基于1 个网页 例句 释义: 全部,氏综合征 更多例句筛选 1. Clinical Manifestation, Diagnosis and Treatment of Hermansky-Pudlak Syndrome 综合征的临床表现、诊断...
Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Biology and genetics of oculocutaneous albinism and vitiligo--common pigmentation disorders in southern Africa The facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherit...
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 ...
The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of ... RA Schinella,MA Greco,BL Cobert,... - 《Annals of Internal Medicine》 被引量: 373发表: 1980年 Hermansky-Pudlak syndrome type 4 (HPS-...
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1). Two frameshift variants in HPS1...