Ask about this productRelated genes to: SGCB antibody
- Gene:
- SGCB NIH gene
- Name:
- sarcoglycan beta
- Previous symbol:
- LGMD2E
- Synonyms:
- SGC, A3b
- Chromosome:
- 4q12
- Locus Type:
- gene with protein product
- Date approved:
- 1995-01-24
- Date modifiied:
- 2019-04-23
Related products to: SGCB antibody
Related articles to: SGCB antibody
- Stereotactic-guided core biopsy (SGCB) is the standard technique to sample mammographically detected calcifications and other findings not amenable to ultrasound guidance. A limitation of SGCB is the requirement of sufficient breast thickness to allow safe needle penetration and sampling, typically ≥ 3 cm for standard needles and ≥ 2 cm for petite needles. SGCB may be cancelled in patients with very thin breasts or when the target lies against the detector side skin. While various maneuvers to increase tissue thickness have been described when breasts are too thin even for petite needles, such as the lateral arm technique, a subset of SGCBs are still cancelled, leading to delays in diagnosis and treatment. To address this gap that still exists for minimally invasive sampling of thin breasts, we describe a novel saline bag spacer technique. This consists of placing a 250 ml sterile saline bag between the breast and detector during compression to increase compression thickness and provide a safe backstop for the biopsy needle. In our initial institutional experience (12 patients referred after outside cancellation), all procedures were completed with target sampling without clinically significant complications. The saline bag technique is a low cost, readily available adjunct that can expand access to minimally invasive diagnosis and help avoid surgical excisional biopsy. - Source: PubMed
Publication date: 2026/04/17
Byrd Jay JSharpe Richard ESharpe MeganBillar Julie ASimmons CurtisHarper Laura K - In certain clinical scenarios, a single diagnosis may be insufficient or even inadequate to fully explain complex or atypical phenotypes. Herein, we present three pediatric cases diagnosed with dual rare genetic disorders and analyze their medical histories and diagnostic trajectories. A total of nine gene mutations were detected, among which seven were novel, including c.[791T>C];[695G>A] in , loss2(EXON:3-5) in , c.[1A>G] (reported);[1024A>G] (reported) in , c.[962-1G>T];[592A>T] in , and c.358C>T in , c.2714C>T in . - Source: PubMed
Publication date: 2026/02/15
Xu Hao-WeiZeng Zhi-QiFan Zhi-GangLu Ke-YuChen XuCheng RuiKan Qing - Hepatocellular carcinoma (HCC) remains one of the leading causes of cancer-related mortality worldwide, largely due to its insidious onset, aggressive progression, and limited therapeutic options, resulting in poor patient prognosis. The lack of reliable prognostic biomarkers has significantly impeded precise patient stratification and personalized treatment. - Source: PubMed
Publication date: 2025/11/18
Song HongWang XiangyuQin YunpengYang WantingCheng ZhenYang JianhuaYang PeizhengYan BiaobiaoWu ZiyinSheng HaiyangYang YinfengYang XiangyuWang Jinghui - Pompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene , encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose. - Source: PubMed
Publication date: 2026/01/29
Pushkov AleksanderChudakova DariaZhanin IlyaNikitin SergeyBasargina ElenaKuzenkova LydmilaAndreeva DariaVasil'eva MariaVasichkin SergeyGabitova AlbinaGaisina ElenaSaifullina ElenaGamzatova AminaGilvanova OlgaDudin VyacheslavErgina OlgaKurbatov SergeyNoskova ElenaOsipova ElenaTihonova OlgaFedotova EkaterinaNuzhny EvgenyChernikova ViktoriaYamshchikova AnastasiaKyzina LubovIrinina NataliaRohlenko OlgaKutkova YuliaPopkova NataliaAhunova AlsyAlexeeva AlinaMazanova NataliaSdvigova NataliyaGandaeva LeylaZharova OlgaPodkletnova TatyanaSukhozhenko AlexeyRusakova AnastasiaDemianov DmitryPakhomov AleksandrFisenko AndreySavostyanov Kirill - Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is an ultra-rare autosomal recessive disorder caused by mutations in , the gene that encodes for β-sarcoglycan (SGCB), a component of the dystrophin-associated protein complex that stabilizes muscle fibers during contractions. Bidridistrogene xeboparvovec is an investigational adeno-associated virus-mediated gene transfer therapy designed to deliver a codon-optimized, full-length human and induce targeted expression of functional human SGCB protein. Interim safety and efficacy data from a clinical trial in patients with LGDM2E/R4 aged 4-15 years (NCT03652259) support further clinical development of bidridistrogene xeboparvovec. However, less is known about the effects of this agent in patients with more advanced LGMD2E/R4, who on average are older and heavier, which prompted their inclusion in studies VOYAGENE (NCT05876780, phase 1) and EMERGENE (NCT06246513, phase 3). In the preclinical study presented here, we delivered bidridistrogene xeboparvovec (0.185 × 10 vg/kg, 0.37 × 10 vg/kg, 0.74 × 10 vg/kg, 1.85 × 10 vg/kg, or 7.4 × 10 vg/kg) to -/- mice aged 27-42 weeks ( = 4 per dose) with age-matched saline-treated and C57BL/6J mice used as controls. Approximately 12 weeks after administration, we observed SGCB expression and found evidence of reduction in muscle fibrosis, reduction in muscle damage, and restoration of muscle force. Overall, a dose-dependent increase in vector exposure across tissue types was observed, with a nonlinear, exposure-dependent increase in both SGCB expression and functional improvement that reached saturation at 7.4 × 10 vg/kg. Pharmacokinetic and pharmacodynamic analyses demonstrated a robust relationship between vector biodistribution, SGCB expression, and muscle force, further supporting clinical development of bidridistrogene xeboparvovec at the highest dose (7.4 × 10 vg/kg), across a broad LGMD2E/R4 population and regardless of disease progression. - Source: PubMed
Publication date: 2025/11/06
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