KIF22 Antibody - N-terminal region (ARP34037_P050)
- Known as:
- KIF22 Antibody - N-terminal region (ARP34037_P050)
- Catalog number:
- arp34037_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KIF22 Antibody - N-terminal region (ARP34037_P050)
Related genes to: KIF22 Antibody - N-terminal region (ARP34037_P050)
- Gene:
- KIF22 NIH gene
- Name:
- kinesin family member 22
- Previous symbol:
- KNSL4
- Synonyms:
- Kid, OBP-1, OBP-2
- Chromosome:
- 16p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-05-21
- Date modifiied:
- 2014-11-18
Related products to: KIF22 Antibody - N-terminal region (ARP34037_P050)
Related articles to: KIF22 Antibody - N-terminal region (ARP34037_P050)
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) is a rare skeletal disorder caused by pathogenic variants in KIF22, a mitotic chromokinesin that generates polar ejection forces (PEF) to ensure proper chromosome alignment and segregation. Although prior work showed that SEMDJL2-associated KIF22 hotspot variants impair chromosome segregation in epithelial cells, how these variants affect chondrocyte mitosis remains incompletely understood. Here, we analyzed the effects of the hotspot variant R149Q, a recently reported recessive variant R49Q, and two newly identified heterozygous variants, P144T and E222Q, in human chondrocytes. Both novel variants were identified in individuals with classic SEMDJL2 features. P144T and E222Q retained PEF-generating activity, whereas R49Q displayed reduced PEFs, consistent with their respective inheritance patterns. Live cell imaging revealed that all variants disrupted mitosis. The heterozygous variants (P144T, E222Q, R149Q) dominantly impeded anaphase chromosome segregation and spindle pole separation, supporting reclassification of P144T and E222Q as likely pathogenic. In contrast, R49Q caused milder, partially penetrant segregation defects, consistent with reduced and dysregulated motor activity. Together, our results define two mechanistic classes of KIF22 dysregulation: constitutive activation in heterozygous variants, which fail to down-regulate KIF22 at anaphase onset, and mixed-state dysregulation in the recessive R49Q variant, which exhibits partial loss of polar ejection force activity coupled with incomplete inactivation during anaphase. These findings broaden the mechanistic framework for how KIF22 variants perturb mitosis in chondrocytes and expand the genotypic landscape associated with SEMDJL2. - Source: PubMed
Publication date: 2026/03/13
Šemić AmilaChan Kazette Yuen YuBernardi PricilaSilveira Karina CSilveira CynthiaCavalcanti Denise PKannu PeterStumpff Jason - M2 macrophages significantly contribute to the advancement of prostate cancer (PCa). This research aims to pinpoint M2 macrophage-associated genes (M2RGs) by leveraging single-cell analyses, with a focus on evaluating their prognostic and therapeutic implications in PCa. - Source: PubMed
Publication date: 2026/02/27
Wu ZhikaiLi JianxinHu JintaoLai CongLi ZhuohangYu HaoYuan ZhihanDai MingzhouShi JuanyiLiu ChengXu Kewei - Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with a poor prognosis and limited treatment options. Synthetic lethality (SL) represents a significant therapeutic strategy that selectively kills cancer cells without affecting normal cells by targeting the synergistic interaction of two genes. The SL strategy offers new avenues for targeted therapy in TNBC. Although challenges remain-such as drug resistance and biomarker selection-advancing research in SL activity holds promise for delivering clinical benefits to patients. - Source: PubMed
Publication date: 2026/02/06
Miao ShichenWang XiaoGu QimingBian ChengyuFan RuiNi QichaoWang YiZhuang Zhigang - Endometriosis has a significant impact on the social, psychological, psychosomatic, and physical aspects of women's lives. There is increasing evidence that endometriosis has to be seen as a systemic and complex disorder with a multifactorial etiology, accompanied by numerous other pathologies, such as mental disorders and even cancer. Herein, we analyzed Disability-Adjusted Life Years (DALYs) and Years Lived with Disability (YLDs) generated from the Global Burden of Disease Study (GBD 2021), which are key metrics used to measure the worldwide impact of diseases. Besides, differential gene expression data generated from the Turku Endomet Database were calculated. Briefly, log2-transformed gene expression counts were investigated using linear modeling with the function expression ~ condition to generate log2 fold changes and -values for each gene. This enabled a precise comparative analysis of mRNA expression levels between control endometrium and various endometriosis-affected tissues, including ovarian endometrioma, peritoneal lesions, and deep endometriosis. Expression patterns of specific genes related to pain and malignant turnover within endometriosis samples and controls have been analyzed. The identification of upregulated genes like , , , , , , , , and , alongside downregulated genes such as , , , and , highlights a broad transcriptional reprogramming within endometriotic tissues. The clustering analysis, which reveals pain-related genes (/, , , , and ), further solidifies the genetic basis for the chronic and often debilitating pain experienced by patients with endometriosis. In 2021, women with endometriosis experienced the highest rates of total YLDs at 19.98%, with anxiety contributing 17.21% and major depression 8.12%, equating to mean YLDs of 15-24 years. In conclusion, our findings reinforce the need for adopting a holistic, psychosomatic approach to managing endometriosis. The identified genetic markers related to pain provide a biological basis for the profound physical suffering. At the same time, the robust DALYs and YLDs data quantify the devastating impact on mental health, particularly highlighting the significant burden of depression and anxiety. - Source: PubMed
Publication date: 2025/12/23
Kordowitzki PawelKelley Liam PMechsner Sylvia - [This retracts the article DOI: 10.1155/2020/6387545.]. - Source: PubMed
Publication date: 2025/07/11
International BioMed Research