Ask about this productRelated genes to: Gja4 Blocking Peptide
- Gene:
- GJA4 NIH gene
- Name:
- gap junction protein alpha 4
- Previous symbol:
- -
- Synonyms:
- CX37
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 1991-07-11
- Date modifiied:
- 2016-10-05
Related products to: Gja4 Blocking Peptide
Related articles to: Gja4 Blocking Peptide
- The classification of superficial cavernous-pattern venous malformations (VMs) remains a subject of clinical debate due to overlapping morphologic features and a lack of defined molecular drivers, particularly for lesions traditionally termed "cavernous hemangiomas". This study aimed to delineate the molecular landscape of these lesions, focusing on the significance of GJA4 mutations. We evaluated 54 cases of superficial cavernous-pattern VMs. Molecular analysis was performed using MassARRAY and digital PCR to detect mutations in GJA4, TEK, PIK3CA, GNAQ, GNA11, and GNA14. Histologic reappraisal was conducted to correlate clinicopathologic features with molecular findings. Histologic stratification categorized the cohort into classic VM (cVM, n=7) and cavernous VM (CVM, n=47); the latter was further subdivided into classical (CL-CVM, n=32) and non-classical (nCL-CVM, n=15) subtypes. GJA4 (c.121G>T, p.Gly41Cys) mutations were identified in 94% (30/32) of CL-CVM cases but were entirely absent in all cVM and nCL-CVM cases. In contrast, cVMs frequently harbored TEK or PIK3CA mutations (71%, 5/7). The molecular drivers for nCL-CVM remained largely unknown, except for a single GNA11 mutation. Morphologically, CL-CVM was characterized by dermal localization, circumscribed margins, and "back-to-back" vascular channels with fibromyoid walls displaying circumferential SMA and h-caldesmon expression. Notably, 75% (24/32) of CL-CVM cases required a diagnostic revision from their original entries. Clinical follow-up data (n=50; range: 0.1-114 months) demonstrated that all patients with CL-CVM (n=29) and nCL-CVM (n=14) achieved no evidence of disease status. In contrast, 29% (2/7) of classic cVMs resulted in residual or recurrent disease. In conclusion, GJA4 p.Gly41Cys mutation is a highly sensitive and specific molecular marker for "classical" CVMs. Our findings support a genotype-phenotype reclassification of superficial CVMs, wherein GJA4 mutations define a distinct, non-infiltrating clinicopathologic entity, separating it from the broader spectrum of superficial cavernous-pattern vascular anomalies. - Source: PubMed
Publication date: 2026/07/28
Chen Kuang-HuaHuang Hsuan-YingChuang Huei-ChiehChen Tse-ChingLin Hsiao-ChingNg Kwai-FongHsu Jun-TeHuang Shih-Chiang - Coronary arterial disease (CAD) poses a significant public health challenge, with tobacco as the most predominant modifiable risk factor in young individuals. Despite a strong correlation between tobacco use and CAD, many smokers remain CAD-free. This fact raises questions about the complex interplay between environmental and genetic factors that contribute to CAD. - Source: PubMed
Publication date: 2026/07/01
Sousa FranciscoMendonça Maria IsabelSousa João AdrianoSá DéboraAbreu GonçaloFerreira MatildeFreitas SóniaBorges SofiaHenriques EvaRodrigues MarianaDrumond AntónioSousa Ana CéliaReis Roberto Palma Dos - The gap junction alpha-4 (GJA4) gene, which encodes connexin37, regulates endothelial function and influences inflammation, platelet adhesion, and thrombus formation in vascular endothelial cells, which may favour atherosclerosis and cardiovascular (CV) events. The main objective was to assess whether the GJA4 rs618675 T>C variant is a risk factor for the onset of CV events in an asymptomatic Portuguese population. - Source: PubMed
Publication date: 2026/07/03
Isabel Mendonça MariaPalma Dos Reis RobertoSá DéboraSousa FranciscoHenriques EvaBorges SofiaFreitas SóniaRodrigues MarianaGuerra GraçaDrumond AntónioCélia Sousa Ana - The increasing demand for sustainable and energy-dense feed in poultry nutrition has prompted the exploration of alternative dietary fat sources. The objective of this study was to evaluate how three fat sources, including black soldier fly oil (BSFO), soybean oil (SBO), and tallow (TA), with circular economy relevance, differed in their effects on laying hens' performance, egg and eggshell quality, reproductive hormones, inflammatory markers, and oviductal connexin expression. A 12-week trial was conducted with 288 Hy-Line Brown layers aged 24 weeks allocated to six treatments, six replicates, and eight birds per replicate in a completely randomised design. The trial was categorised into three phases (26-29 weeks, 30-33 weeks, and 34-37 weeks), subjected to six dietary treatments as diet+2% BSFO (BSF2), diet+4% BSFO (BSF4), diet+2% SBO (SOY2), diet+4% SBO (SOY4), diet+2% TA (TA2), and diet+4% TA (TA4). Fat source significantly influenced laying performance, egg quality, inflammatory status, and gene expression, whereas inclusion level and interaction showed no significant effect. Overall, the findings show that hens fed the SBO treatments had higher (P = 0.015, P = 0.009) hen-day egg production during 30-33 weeks, and 34-37 weeks, comparable to BSFO treatments and TA2, which outperformed TA4. Egg mass was higher (P = 0.030) in the SBO treatments, comparable to BSFO, during 34-37 weeks. The Haugh unit was higher (P = 0.016) in the BSFO treatments, which was comparable to SBO during 26-29 weeks. Eggshell thickness was higher (P = 0.043) in the BSFO treatments, comparable to SBO treatments and TA4 during 26-29 weeks. Eggshell hardness was higher (P = 0.045, P = 0.023) in BSFO and SBO treatments during 26-29 weeks, and 34-37 weeks. Moreover, SBO and BSFO treatments significantly reduced serum tumour necrosis factor-alpha levels and increased the expression of gap junction protein alpha 1/connexin 43 (GJA1) and gap junction protein alpha 4/ connexin 39 (GJA4) in the infundibulum. Conversely, TA inclusion was associated with higher pro-inflammatory response and lower connexin expression. The study concludes that BSFO, SBO, and TA, each with circular economy relevance, can support productive performance and physiological health in laying hens. While all three oils are viable energy sources, their biological impacts vary according to each fatty acid profile. - Source: PubMed
Publication date: 2026/06/04
Tajudeen HHosseindoust AMun J YHa S HKim J S - Although follicular development and oocyte competence depend on insulin-like growth factor-1 (IGF-1), its optimal dose and molecular mechanisms during goat maturation (IVM) remain unclear. - Source: PubMed
Publication date: 2026/05/29
Widjiati WidjiatiLuqman Epy MuhammadDarsini NinikAulanni'am Aulanni'amHendrawan Viski FitriKurniawati Devia YoanitaJaafar Wan Nor Fitri Bin Wan