EVC2 antibody
- Known as:
- EVC2 (anti-)
- Catalog number:
- orb101710
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- EVC2 antibody
Related genes to: EVC2 antibody
- Gene:
- EVC2 NIH gene
- Name:
- EvC ciliary complex subunit 2
- Previous symbol:
- -
- Synonyms:
- LBN
- Chromosome:
- 4p16.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-04-11
- Date modifiied:
- 2016-02-15
Related products to: EVC2 antibody
Related articles to: EVC2 antibody
- Early diagnosis of sub-centimeter lung metastases is critical for timely decision-making and improved prognosis in patients with colorectal cancer. The diagnostic evaluation of indeterminate sub-centimeter lung nodules in colorectal cancer patients remains a crucial challenge. We aim to develop and validate a deep learning model for differentiating sub-centimeter lung metastases noninvasively. - Source: PubMed
Publication date: 2026/06/18
Gao XinyiMa XiaoZhang ZhiyuanYuan JieLi QianlingZheng PengwenLv MinMa DeningSun Jingjing - The temporomandibular joint (TMJ) relies on specialized progenitor cells for tissue maintenance and repair. We characterized TMJ-derived progenitor cells in mice and investigated the role of -mediated Hedgehog signaling. Progenitor cells from the anterior TMJ exhibited greater colony-forming capacity and an elongated morphology, while posterior cells were cuboidal, highlighting regional heterogeneity. TMJ-derived progenitors demonstrated multipotency, differentiating into osteogenic and chondrogenic lineages. -expressing, slow-cycling cells localized to the ligament attachment regions, initially accumulating there and not overlapping with specialized cells (Col1 cells). Conditional disruption in -expressing cells paradoxically augmented expression of and mechanosensors (, , ), and produced more confluent, rapidly expanding colonies. We hypothesize that these colonies are primarily composed of transit amplifying cells (TACs), which may proliferate robustly but face challenges in terminal differentiation. These results reveal critical roles for EVC2 and regional progenitor cell diversity in TMJ regenerative biology and suggest that targeting cell signaling and mechanical factors may inform novel strategies for TMJ disorder therapies. - Source: PubMed
Publication date: 2026/04/07
Correia Cavalcante RafaelZhang HonghaoMa Peter XMishina Yuji - Cardioacrofacial dysplasia 1 [CAFD1; Online Mendelian Inheritance in Man (OMIM): #619142] is a rare skeletal ciliopathy caused by pathogenic variants in the gene, exhibiting phenotypic overlap with conditions such as Ellis-van Creveld (EvC) syndrome. To date, only five cases have been reported worldwide, all carrying the identical p. Gly137Arg mutation. - Source: PubMed
Publication date: 2026/02/12
Liang ChenWang ZhihuaBai Gaigai - BACKGROUND: Weyers acrofacial dysostosis (WAD) is a rare autosomal dominant ciliopathy caused by heterozygous pathogenic variants in the EVC2 gene. The classic phenotype includes short stature, dental anomalies, and nail dysplasia. To date, all reported causative variants are truncating mutations located within the last exon (exon 22). In contrast, pathogenic variants in other regions, particularly splice-site variants, remain poorly characterized. The co-occurrence of WAD and epilepsy has rarely been documented. METHODS: We performed exome sequencing in a proband with comorbid developmental and epileptic encephalopathy (DEE) and WAD features. A candidate splice-site variant was further investigated using an in vitro minigene splicing assay. RESULTS: Exome sequencing identified a de novo heterozygous splice-site variant in EVC2 (c.451-1G > T). Minigene analysis confirmed that this variant causes complete skipping of exon 4, predicted to lead to an in-frame deletion (p.Tyr151_Leu173del). To our knowledge, this is the first report of a pathogenic splice-site variant in this region of EVC2 associated with WAD and DEE. CONCLUSION: Our study expands the mutational spectrum of EVC2. It underscores the utility of exome sequencing coupled with functional assays for diagnosing complex cases. - Source: PubMed
Publication date: 2026/02/10
Chen AiZhang WenwenLong PingpingChen XiminZhang AyuanZhu HuiZeng LanXiong FuWang JinZhu ShuyaoZhou Ping - Congenital heart disease (CHD) is the most common congenital malformation, with most cases exhibiting a multifactorial etiology involving genetic and environmental factors. Congenital anomalies of the atrioventricular valve or septum (CAAVAS) and functionally univentricular heart (FUH) are complex subtypes of CHD, where disruptions in key molecular pathways are implicated. This study investigates the genetic burden contributing to these anomalies. This case-control study included 48 participants: 24 patients diagnosed with CAAVAS or FUH and 24 healthy controls. Whole-exome sequencing (WES) was conducted to assess genetic burden by evaluating minor allele frequencies (MAF) using gnomAD and predicting functional impact of variants with REVEL scores. A secondary filtration was performed, focusing on 349 genes associated with abnormal heart valve morphology (HP:0001654) as defined by the Human Phenotype Ontology (HPO) database, to identify pathogenic variants exclusive to the case group. Genetic burden risk (GBR) analysis revealed a significantly higher median number of common variants in the case group compared to controls (p = 0.035). Genetic analysis identified variants in genes involved in contractile cardiac and cytoskeletal proteins (MYH3, ACTC1), extracellular matrix proteins (FBN1, FREM1, HSPG2), ciliary proteins (EVC2, PKD1L1), enzymes (POLG, DNASE1L3), cell-signaling proteins (TGFB2, CCDC22) and transcription factors (NKX2-5, NONO). This study highlights the significant role of genetic burden and gene variants associated with congenital mitral and tricuspid valve anomalies. Our findings reinforce the strong genetic predisposition underlying these malformations, as evidenced by the increased genetic burden in affected individuals compared to controls without CHD. - Source: PubMed
Publication date: 2026/01/24
Campos-Garcia Felix-JulianCastillo-Espinola Addy-ManuelaMedina-Escobedo Carolina-ElizabethZenteno Juan CLara-Riegos Julio-CesarChuc-Chan Juanita-AdrianaVelazquez-Ibarra Ana-IsabelCauich-Pool Paulina-Del-CarmenFavela-Perez Eddie-AlbertoPech-Gomez Pablo-YsidroVillasis-Keever Miguel-Angel