Ask about this productRelated genes to: HPS6 antibody
- Gene:
- HPS6 NIH gene
- Name:
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Previous symbol:
- -
- Synonyms:
- FLJ22501, BLOC2S3
- Chromosome:
- 10q24.32
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-04
- Date modifiied:
- 2019-04-23
Related products to: HPS6 antibody
Related articles to: HPS6 antibody
- This study aims to explore the potential molecular mechanisms by which di (2-ethylhexyl) phthalate (DEHP) exposure induces pulmonary arterial hypertension (PAH). - Source: PubMed
Publication date: 2026/03/20
Li HuaJiang YingchunLi Jijia - We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism (OA), based on 290 families, which expands our previous study by 100 additional families. The overall frequency distribution of major subtypes remained consistent with our previous findings: OCA4 remains the most prevalent subtype (67 patients, 23.1%), followed by OCA1 (57 patients, 19.7%), Hermansky-Pudlak syndrome (HPS) 1 (35 patients, 12.1%), and OCA2 (30 patients, 10.3%). Notably, our expanded analysis identified patients with rare subtypes, including OCA3, OCA6, HPS2, HPS3, HPS5, and HPS6, as well as OA, further demonstrating the genetic diversity of albinism in the Japanese population. Through comprehensive genetic screening of the additional 100 families, we identified 17 patients harboring previously unreported pathological variants across multiple albinism subtypes. These findings expand the variant spectrum of albinism in Japan, provide valuable insights for genetic counseling, and underscore the critical importance of comprehensive clinical evaluation and long-term multidisciplinary follow-up for patients with albinism, particularly those with HPS subtypes. - Source: PubMed
Okamura KenSaito ToruOiso NaokiSekiguchi AkikoMotegi Sei-IchiroHara YoshiakiKomine MayumiKudo KyokoNoguchi AtsushiOshimo TomokoShibuya MamiMiyano KyoheiHoshina TakayukiItokawa MariMasui YuriOtaki KaoruHozumi YutakaSuzuki Tamio - To compare the color alteration, surface roughness and microhardness and cross-sectional microhardness of bovine enamel treated with at-home whitening strips and gels. - Source: PubMed
Publication date: 2025/01/17
Aidar K M SCintra L T AFerreira M C BFagundes T CEsteves L M BGoto JCatelan ABriso A L F - Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in , , and genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases. - Source: PubMed
Publication date: 2024/10/19
Bobreshova Anastasia MIonova Sofya AKadyshev Vitaly VSukhanova Natella VViakhireva Iuliia VFilatova Alexandra YuZhurkova Natalia VSparber Peter AMarakhonov Andrey VVasilyeva Tatyana AShchagina Olga AKutsev Sergey IZinchenko Rena A - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. The genetic types of HPS are associated with a spectrum of multisystemic clinical manifestations. Phenotypic features of HPS type 1 (HPS-1) or HPS-4, which are associated with defects in biogenesis of lysosome-related organelles complex-3 (BLOC-3), are generally more severe than those of HPS-3, HPS-5, or HPS-6, which are associated with defects in BLOC-2. A paucity of information is available about renal impairment in HPS. The objective of this study is to expand the understanding of kidney disease in HPS. - Source: PubMed
Publication date: 2024/10/09
Yokoyama TadafumiO'Brien Kevin JFranklin Tesiya MZuo Ben Long GZuo Mei Xing GMerideth Melissa AIntrone Wendy JGochuico Bernadette R