Ask about this productRelated genes to: HS3ST6 antibody
- Gene:
- HS3ST6 NIH gene
- Name:
- heparan sulfate-glucosamine 3-sulfotransferase 6
- Previous symbol:
- HS3ST5
- Synonyms:
- -
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-21
- Date modifiied:
- 2015-12-04
Related products to: HS3ST6 antibody
Related articles to: HS3ST6 antibody
- The 2025 World Allergy Organization (WAO) Guidelines for the Classification, Diagnosis, and Treatment of Hereditary Angioedema (HAE) with Consideration of Worldwide Disparities provide a comprehensive, evidence-informed, and globally applicable framework for the care of this rare and potentially life-threatening disorder. HAE is a genetic disease characterized by recurrent episodes of subcutaneous and submucosal swelling, most commonly mediated by bradykinin, and is associated with substantial morbidity, impaired quality of life, and a lifelong risk of fatal laryngeal edema. The Guidelines were developed by an international panel of 40 experts from 22 countries, with representation from all world regions, reflecting the commitment of WAO to geographic diversity, inclusiveness, and global relevance. The development process for these guidelines followed a structured and transparent methodology that integrated systematic literature review, appraisal of real-world evidence, and application of the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework adapted for rare diseases, complemented by a formal Delphi consensus process. This approach was specifically designed to address the limitations of conventional evidence hierarchies in rare disorders, while ensuring clinical applicability across heterogeneous healthcare systems and resource settings. A central element of the guidelines is an updated classification of HAE based on underlying pathophysiology and disease endotypes. The traditional distinction between HAE types 1 and 2 is unified under the term HAE with C1 inhibitor deficiency (HAE-C1-INH), reflecting shared biological mechanisms and management principles. The guidelines also recognize an expanding spectrum of HAE with normal C1 inhibitor (HAE-nC1-INH), including forms associated with pathogenic variants in F12, PLG, ANGPT1, KNG1, MYOF, HS3ST6, CPN1, and DAB2IP, as well as cases with currently unidentified genetic causes. The diagnostic strategy emphasizes early clinical recognition based on characteristic features, including recurrent angioedema without urticaria, abdominal or laryngeal involvement, early symptom onset, and family history. A simplified diagnostic algorithm is proposed, prioritizing the C1 inhibitor functional assay as the preferred initial test when performed in a reliable specialized laboratory. Alternative diagnostic pathways are outlined for settings with limited access to specialized testing, including pragmatic combinations of biochemical assays and selective use of genetic testing, particularly relevant for HAE-nC1-INH and family screening. Management recommendations address on-demand treatment of acute attacks, short-term prophylaxis, and individualized long-term prophylaxis. Universal access to on-demand therapy is emphasized for all patients with confirmed HAE, including those who are asymptomatic, given the unpredictable nature of attacks and lifelong risk. Long-term prophylaxis is addressed within a treat-to-target framework aimed at achieving complete disease control and sustained improvement in health-related quality of life, with regular reassessment and shared decision-making. Empowering patients and caregivers through structured education, access to appropriate medications, and integration with specialized referral centers is associated with earlier treatment, reduced healthcare utilization, and improved equity of care and reduced avoidable morbidity and mortality worldwide. The 2025 WAO Guidelines for Hereditary Angioedema establish an evidence-informed, patient-centered, and forward-looking framework for the classification, diagnosis, and management of HAE. By integrating advances in pathophysiology, diagnostics, and therapeutics with global expert consensus and real-world considerations, the guidelines aim to support consistent, equitable, and high-quality care for patients with HAE across regions and healthcare systems. - Source: PubMed
Publication date: 2026/03/19
Vázquez Daniel OGiavina-Bianchi PedroJosviack DaríoKaplan Allen PMartinez Pablo A SFantini ClaudioBernstein Jonathan AAbbas ShahidLevin Nancy AgmonAl-Ahmad MonaAlandijani SultanAlhashmi Hani AbdullahAli Ramzy MohammedAllam InesAl-Nesf Al-Mansouri MaryamAl-Tamemi SalemAltrichter SabineCastelló Mirta ÁlvarezAndoh Hilary DAun Marcelo VivoloMapondela Kassim BabuBanerji AleenaBara Noémi-AnnaBarrera Olga MelcinaPerigault Paulo BarreraBranco-Ferreira ManuelCalderón-Llosa Oscar ManuelCanonica Giorgio WalterAlmarales Raúl CastroCecchi LorenzoChang Yoon-SeokChantaphakul HiroshiChikovani TinatinChong-Neto Herberto JoseContreras-Verduzco Francisco AlbertoDefendi FedericaDorsainvil VilbrunEbisawa MotohiroEl-Sayed Zeinab AFasano Mary BethFazlollahi Mohammad RezaFemine EuguensFernandes Fátima RodriguesFiocchi AlessandroFonacier LuzGallego ClaudiaGarcía Abujeta José LuisGereda José EnriqueGiordano ErminiaGökmen Nihal MeteGómez R MaximilianoGonzalez MonicaDíaz Sandra GonzálezGrau MasumiHakl RomanHide MichihiroHossny ElhamHuilaja LauraHuq Syed RezaulIrani CarlaIshchanka AksanaIspayeva ZhanatJamalyan Kristina RKaidashev IgorKamkamidze GeorgeTanno Luciana KaseKathuria P CKessel AharonKiani-Alikhan SorenaKomarla Nagendra PrasadKvedarienė VioletaLang David MLee Yong WonLevin MichaelLi Philip HLi HenryLumry William RMachavariani KetevanMartinez-Sager InmaculadaMaselli Juan PMikos NikolaosMitskevich NunuMobayed Hassan M SMonge Ortega Olga PatriciaMorita HideakiMunkhbayarlakh SonomjamtsNabavi MohammadNaqvi Muhammad RazaOcampo JaimeOlivares MargaritaOrtega-Martell Jose AntonioOyuntsatsral BatsaikhanPapadopoulos NikosPatella VincenzoPawankar RubyPeter JonnyPsarros FotisRegateiro FredericoReidl MarcRigalt Ann MRincón Fernández Jenny MarielRivera Gómez Maria AntoniaRojo Gutiérrez María IsabelSahiner Ümit MuratSandoval-Ruballos MónicaSantos NatachaSarrazola MauricioSchrijvers RikShchurok IrynaSheikh Farrukh RafiqueSobotkova MartaSoria AngeleStefanaki EfthaliaTarazona RobinLuján Alejandra ValecillosRostan Marylin ValentinValerieva AnnaWing-Kin Wong GaryYong Patrick F KZaitoun FaresMartin Bryan LAnsotegui Ignacio JMorais-Almeida MárioCraig Timothy J - Hereditary angioedema with normal C1 inhibitor (HAE-nC1-INH) is a rare and genetically heterogeneous disorder with an incomplete molecular understanding. This study aimed to identify novel genetic variants associated with HAE-nC1-INH, characterize their clinical manifestations, and evaluate real-world treatment responses. Whole-exome sequencing of 27 HAE patients, including eight with HAE-nC1-INH, identified four previously unreported MYOF variants and additional pathogenic variants in KNG1 and HS3ST6, expanding the genetic spectrum of the disease. MYOF variants were associated with recurrent edema episodes, often with prolonged duration. The HS3ST6 variant was linked to refractory angioedema with non-resolving lower extremity involvement, highlighting atypical, persistent clinical phenotypes beyond the classical self-limiting presentation of HAE. Lanadelumab effectively reduced attack frequency in most patients; however, the variability in treatment response, particularly in MYOF and HS3ST6 carriers, highlights the need for individualized therapeutic approaches. These findings provide new insights into the genetic and clinical complexity of HAE-nC1-INH and emphasize the importance of genetic testing in refining diagnosis and optimizing treatment strategies, contributing to a more precise understanding of hereditary angioedema. - Source: PubMed
Publication date: 2025/08/23
Gao HaiqingZhao YingChen ShenganZhang ZhenYang FanpingChen ZihuaWang LantingYang JinHe ShanTang ChangZheng ShenyuanGuan ChenggongXu YuTang LinZhang AiyuanMaurer MarcusLee DylanMa LiLuo Xiaoqun - The intima-media thickness (IMT) of the carotid artery, an indicator of subclinical atherosclerosis, varies in close association with various factors such as diabetes and immune response. The extent of changes in IMT varies among individuals owing to both genetic and epigenetic factors. In this study, we aimed to identify single nucleotide polymorphisms (SNPs) and DNA methylation patterns that affect carotid IMT in monozygotic (MZ) twins. - Source: PubMed
Publication date: 2024/11/14
Mori SahoArakawa YuyaHasegawa MikaKato ShihoHashimoto HinakoYoshioka SakiUeda HiromichiResearch Group Osaka TwinWatanabe Mikio - Heparan sulfate (HS) is an important component of the kidney anionic filtration barrier, the glomerular basement membrane (GBM). HS chains attached to proteoglycan protein cores are modified by sulfotransferases in a highly ordered series of biosynthetic steps resulting in immense structural diversity due to negatively charged sulfate modifications. 3-O-sulfation is the least abundant modification generated by a family of seven isoforms but creates the most highly sulfated HS domains. We analyzed the kidney phenotypes in the Hs3st3a1, Hs3st3b1 and Hs3st6 -knockout (KO) mice, the isoforms enriched in kidney podocytes. Individual KO mice show no overt kidney phenotype, although Hs3st3b1 kidneys were smaller than wildtype (WT). Furthermore, Hs3st3a1; Hs3st3b1 double knockout (DKO) kidneys were smaller but also had a reduction in glomerular size relative to wildtype (WT). Mass spectrometry analysis of kidney HS showed reduced 3-O-sulfation in Hs3st3a1 and Hs3st3b1, but not in Hs3st6 kidneys. Glomerular HS showed reduced HS staining and reduced ligand-and-carbohydrate engagement (LACE) assay, a tool that detects changes in binding of growth factor receptor-ligand complexes to HS. Interestingly, DKO mice have increased levels of blood urea nitrogen, although no differences were detected in urinary levels of albumin, creatinine and nephrin. Finally, transmission electron microscopy showed irregular and thickened GBM and podocyte foot process effacement in the DKO compared to WT. Together, our data suggest that loss of 3-O-HS domains disrupts the kidney glomerular architecture without affecting the glomerular filtration barrier and overall kidney function. - Source: PubMed
Publication date: 2024/06/27
Patel Vaishali NBall James RChoi Sophie HLane Ethan DWang ZhangjieAure Marit HVillapudua Carlos UZheng Changyu Bleck ChristopherMohammed HebaSyed ZulfeqharLiu JianHoffman Matthew P - Oral squamous cell carcinoma (OSCC) is the predominant type of oral cancer, while some patients may develop oral multiple primary cancers (MPCs) with unclear etiology. This study aimed to investigate the clinicopathological characteristics and genomic alterations of oral MPCs. Clinicopathological data from patients with oral single primary carcinoma (SPC, n = 202) and oral MPCs (n = 34) were collected and compared. Copy number alteration (CNA) analysis was conducted to identify chromosomal-instability differences among oral MPCs, recurrent OSCC cases, and OSCC patients with lymph node metastasis. Whole-exome sequencing was employed to identify potential unique gene mutations in oral MPCs patients. Additionally, CNA and phylogenetic tree analyses were used to gain preliminary insights into the molecular characteristics of different primary tumors within individual patients. Our findings revealed that, in contrast to oral SPC, females predominated the oral MPCs (70.59%), while smoking and alcohol use were not frequent in MPCs. Moreover, long-term survival outcomes were poorer in oral MPCs. From a CNA perspective, no significant differences were observed between oral MPCs patients and those with recurrence and lymph node metastasis. In addition to commonly mutated genes such as CASP8, TP53 and MUC16, in oral MPCs we also detected relatively rare mutations, such as HS3ST6 and RFPL4A. Furthermore, this study also demonstrated that most MPCs patients exhibited similarities in certain genomic regions within individuals, and distinct differences of the similarity degree were observed between synchronous and metachronous oral MPCs. - Source: PubMed
Publication date: 2024/02/18
Zhou XuanCai XinjiaJing FengyangLi XuefenZhang JianyunZhang HeyuLi Tiejun