GAS8 antibody
- Known as:
- GAS8 (anti-)
- Catalog number:
- orb101857
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- GAS8 antibody
Related genes to: GAS8 antibody
- Gene:
- GAS8 NIH gene
- Name:
- growth arrest specific 8
- Previous symbol:
- GAS11
- Synonyms:
- DRC4
- Chromosome:
- 16q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-03-23
- Date modifiied:
- 2015-11-23
Related products to: GAS8 antibody
Related articles to: GAS8 antibody
- We report a 28-year-old infertile male presenting with markedly reduced progressive sperm motility and severe morphological abnormalities (normal morphology rate: 1%), accompanied by primary ciliary dyskinesia (PCD)-like symptoms, including chronic rhinitis, adolescent nasal polypectomy, and persistent rhinorrhea. Transmission electron microscopy (TEM) revealed ultrastructural defects involving the sperm head, nucleus, and flagellar axoneme. Whole-exome sequencing (WES) identified two novel compound heterozygous nonsense variants in the GAS8 gene: c.280 G > T (p.Glu94Ter) and c.382 C > T (p.Gln128Ter). Based on these findings, testicular sperm aspiration (TESA) combined with intracytoplasmic sperm injection (ICSI) was performed, resulting in a biochemical pregnancy. This case expands the mutational and phenotypic spectrum of GAS8 and provides additional clinical evidence relevant to genetic diagnosis, genetic counseling, and assisted reproductive management of male infertility accompanied by PCD-like symptoms. - Source: PubMed
Publication date: 2026/09/04
Zhao MingjiaGuo ShuyuRan LanxiMeng YueZhao YijiaWang JingWang Binbin - LncRNAs emerge as critical regulators of gene expression and epigenetic modulation in human cancer. However, the biological and clinical significance of the lncRNA in differentiated thyroid cancers (DTCs) remains poorly understood. - Source: PubMed
Publication date: 2026/06/08
Murugan Avaniyapuram KannanAl-Hindi HindiAlzahrani Ali S - The Growth arrest-specific protein 8 (GAS8) domain-containing gene family (Orthogroup 6127at5690) is a highly conserved, single-copy orthologous group in the Trypanosoma taxa retained for codon-based evolutionary analysis (10 validated species). This family encodes a microtubule-associated protein implicated in cytoskeletal organization and flagellar motility. We conducted a genus-wide evolutionary analysis of the GAS8-domain protein, focusing on the Trypanosoma melophagium ortholog LSM04 004638. Maximum likelihood phylogenetic reconstruction, branch-specific and site-level codon-based selection analyses, ancestral sequence reconstruction, and Rosetta-based energetic estimation were performed. Despite strong purifying constraint consistent with essential cytoskeletal function, branch-level aBSREL detected a statistically significant signal compatible with episodic diversifying selection along the T. melophagium lineage (aBSREL: LRT = 6.72, Holm-corrected p = 0.0494). Site-level analyses identified two significant MEME codon sites (2 and 109; p = 0.00598 and p = 0.00916), corresponding to derived non-synonymous substitutions relative to the reconstructed ancestor (P2G and V106L); a third site (267) was suggestive but not significant (p = 0.08596). Branch-site codeml did not reach statistical significance (LRT = 1.7428, p = 0.1868, BH-FDR = 0.9339), although BEB highlighted site 2 (PP = 0.983) under the alternative model. These results are consistent with, but do not by themselves prove, limited lineage-specific adaptive refinement in an otherwise highly constrained cytoskeletal regulator; the signal should be regarded as method-dependent and statistically modest based on codeml branch-site test. A RELAX sensitivity test found no evidence that the focal-lineage signal is driven by relaxed constraint (K = 1.12, p = 0.697). Rosetta-based energetic comparisons across single- and double-reversion models consistently yielded positive [Formula: see text] values, but structural interpretation remains model-dependent and should be treated as hypothesis-generating rather than as direct evidence for altered function in vivo. - Source: PubMed
Publication date: 2026/06/09
Das AnumitaGhosh ArnabPal SwarnamoyBiswas SonaliSinha KrishnenduSarkar DebjaniGhosh Nabanita - Primary ciliary dyskinesia (PCD) is a monogenic disorder of motile cilia characterized by impaired mucociliary clearance and multisystem involvement. We describe a patient with bronchiectasis, chronic rhinosinusitis, situs inversus, and primary infertility with hoard the splice-site variant (NM_015896.4:c.511-1G>A). High-speed video microscopy (HSVM) demonstrated near-complete immotility of respiratory cilia. RT-PCR and cDNA sequencing revealed aberrant splicing with insertion of a 100-bp fragment, leading to a frameshift and a pre-mature termination codon predicted to trigger non-sense-mediated mRNA decay and truncate the C-terminal MYND domain. Consistently, transcript and protein levels were markedly reduced. Transmission electron microscopy demonstrated loss of both outer and inner dynein arms. Concordantly, immunofluorescence showed absence of DNAH5, supporting an outer dynein arm defect. In addition, single-headed inner dynein arm components were selectively disrupted, as evidenced by loss of DNALI1, whereas the double-headed IDAf component DNAH2 was preserved. Notably, GAS8 (DRC4) was absent despite preserved DRC1 expression, suggesting that GAS8 loss in this case was not simply secondary to DRC1 deficiency and may reflect broader perturbation of nexin-dynein regulatory complex organization. Collectively, these findings expand the phenotypic spectrum and molecular characterization of ZMYND10-related PCD and provide further insight into dynein arm assembly and axonemal organization. - Source: PubMed
Publication date: 2026/05/08
He JieLu XiangyangGuo ManqingYang BinyiZhou XianglinLiu YingFan HuiYang DanhuiLuo Hong - Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder leading to destructive airway disease with severe bronchiectasis and chronic lung failure in adulthood. Pathogenic variants in CCDC40 are associated with a more severe reduction of lung function compared to most other PCD types. Currently, no therapies correcting the underlying disease mechanism are available. Here, we investigate the efficacy of lipidoid nanoparticle-formulated mRNA encoding human CCDC40 (LNP-CCDC40-mRNA) as a corrective measure for structural and functional defects in vitro (human cells) and in vivo (zebrafish). Human nasal respiratory epithelial cells cultured at an air-liquid interface from 5 CCDC40-deficient individuals and a newly generated vertebrate animal model (ccdc40-/- zebrafish) were treated with LNP-CCDC40-mRNA. CCDC40-deficient cells were analyzed by high-speed video microscopy and immunofluorescence microscopy. ccdc40-/- zebrafish olfactory pit cilia were analyzed by high-speed video microscopy and fluid flow assays. Topical application of exogenous LNP-CCDC40-mRNA to CCDC40-deficient cells results in endogenous CCDC40 expression (10%-74% of ciliated cells), enabling axonemal integration of CCDC40-associated proteins (CCDC39, GAS8/DRC4, DNALI1). Consistently, ciliary beat frequencies were significantly increased in treated CCDC40-deficient cells and were comparable to those of healthy control cells. Further, we showed improved ciliary transport of fluorescent particles. Injection or topical application of human LNP-CCDC40-mRNA to ccdc40-/- zebrafish significantly increased ciliary motility and established directional flow in olfactory pits. We provide structural and functional evidence in vitro and in vivo for the biological efficacy of LNP-CCDC40-mRNA in CCDC40-deficient respiratory cells and zebrafish. Based on our results, an in vivo human study (Phase 1 trial) is planned in individuals with pathogenic variants in CCDC40. - Source: PubMed
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