Hps3 antibody - N-terminal region (ARP30062_P050)
- Known as:
- Hps3 (anti-) - N-terminal region (ARP30062_P050)
- Catalog number:
- arp30062_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- Hps3 antibody - N-terminal region (ARP30062_P050)
Related genes to: Hps3 antibody - N-terminal region (ARP30062_P050)
- Gene:
- HPS3 NIH gene
- Name:
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Previous symbol:
- -
- Synonyms:
- SUTAL, BLOC2S1
- Chromosome:
- 3q24
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-13
- Date modifiied:
- 2019-04-23
Related products to: Hps3 antibody - N-terminal region (ARP30062_P050)
Related articles to: Hps3 antibody - N-terminal region (ARP30062_P050)
- 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 - Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive syndromic type of albinism. It is characterized by oculocutaneous hypopigmentation, platelet dysfunction, and variable systemic involvement depending on the specific subtype. To date, eleven distinct HPS types have been identified, with HPS3 being among the milder forms. - Source: PubMed
Publication date: 2025/11/06
Chouman ChahnazSalhab SuzanaMartella SalvatoreMousawi ZahraaAssi AlexandreChebly AlainEl Shamieh Said - Diabetic retinopathy affects a substantial proportion of individuals with diabetes and, if not treated, may lead to acquired visual impairment or even blindness. An improved comprehension of the genetics of diabetic retinopathy (DR) is crucial in understanding the disease mechanisms. We aimed to identify rare and low-frequency variants predisposing to severe DR (SDR) in type 1 diabetes. - Source: PubMed
Vuori NadjaAntikainen Anni AHaukka Jani KHarjutsalo ValmaGroop Per-HenrikSandholm Niina - Amelogenesis imperfecta (AI) encompasses a group of conditions characterized by abnormalities in the development or function of tooth enamel. Clinical manifestations include different forms and degrees of enamel frailty, associated with sensitivity, tooth fractures, stains, abnormal tooth morphology, missing teeth, etc. AI is genetically heterogeneous, with over 70 genes associated with autosomal dominant, autosomal recessive, X-linked, and oligogenic inheritance. - Source: PubMed
Publication date: 2025/09/01
Lanza Célia Regina MoreiraRodrigues Artur MeloMascarenhas Iasmin Fonseca TolentinoSouza Talita Roberta Ferreira deReis Matheus OliveiraAvelar Felipe MorandoCarvalho Maria Raquel SantosAzevedo Vasco Ariston Carvalho deBarh Debmalya - Identifying molecular biomarkers of pulmonary fibrosis (PF) would improve monitoring the disease progression and response to treatment. Hermansky-Pudlak syndrome (HPS)PF is an inherited type of progressive PF with accelerated onset of PF in patients with HPS type 1 (HPS-1). HPSPF could serve as a model to study biomarkers of progressive PF, given that all individuals with HPS-1 eventually develop HPSPF. We used a multiomics strategy to discover progressive blood biomarkers that can recognize factors contributing to the fibrotic cascade in the lungs of individuals with HPS. Metabolomic and cytokine/chemokine profiling were performed on serum samples from patients with HPS-1, HPS-1 with PF (HPSPF), HPS-3, HPS-5, or idiopathic PF and healthy volunteers. Metabolomics, cytokine/chemokine, pulmonary function, and age data from subjects with HPS-1 and HPSPF were integrated into a multiomics network. The analysis highlighted alterations in the transsulfuration pathway, arginine metabolism, and redox balance with the progression of PF in HPS-1. Among those, CCL22 and choline were significantly elevated in HPSPF compared with HPS-1 in two independent cohorts together with age and were associated with decline of pulmonary function. In receiver operating characteristic curve analysis, both CCL22 and choline demonstrated high accuracy in predicting PF in subjects with HPS-1 and therefore could serve as prognostic blood biomarkers of HPSPF. We noted similarity in molecular signatures of CCL22 in progressive idiopathic PF and HPSPF. We found that inducible nitric oxide synthase is an upstream regulator of releasing profibrotic mediators (CCL22, CCL24, IL-18, IL-1α, IL-1β), suggesting the therapeutic potential of inducible nitric oxide synthase inhibition in progressive HPSPF. - Source: PubMed
Arif MuhammadBasu AbhishekZuo Ben Long GZuo Mei Xing GO'Brien Kevin JPommerolle LennyCaro-Rivera Lourdes MDe Jesus-Rojas WilfredoRamos-Benitez Marcos JBehan MollyIntrone Wendy JFrost GraemeMoaddel RuinGahl William AMalicdan May Christine VGochuico Bernadette RCinar Resat