Ask about this productRelated genes to: WBP11 antibody
- Gene:
- WBP11 NIH gene
- Name:
- WW domain binding protein 11
- Previous symbol:
- -
- Synonyms:
- NPWBP, SIPP1, PPP1R165
- Chromosome:
- 12p12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-28
- Date modifiied:
- 2014-11-19
Related products to: WBP11 antibody
Related articles to: WBP11 antibody
- - Source: PubMed
Publication date: 2026/04/23
Wei YuanChen ZhongshaoLi YingweiSong Kun - - Source: PubMed
Publication date: 2026/04/13
Ma TingbinLiu JinyuWang YuqiZhu HaiboQin YihongLiu RuizhiYuan HongtaoYe BaoyingHua RenyiLi ShuyuanXi HuiWang JianLi Niu - Background Orofacial clefts (OFCs) are the most common craniofacial congenital anomalies, with complex aetiology involving both genetic and environmental factors. Most genetic studies on the condition have focused on the contribution of single nucleotide variants (SNVs) and small insertions and deletions (indels). However, the contribution of copy number variants (CNVs), especially in African populations, remains underexplored despite their known contribution to congenital anomalies. This study aimed to identify high-confidence CNVs contributing to the aetiology of syndromic OFCs in Ghanaian case parent trios using whole exome sequencing (WES) datasets. Methods WES data from Ghanaian case parent trios were processed through a comprehensive five-phase pipeline. Following stringent quality control and preprocessing, CNVs were called using four independent tools, namely, cn.MOPS, CODEX, ExomeDepth, and GATK-gCNV. The called CNVs were merged through a consensus-based approach using BEDtools, requiring support from at least two tools to classify them as true CNVs. AnnotSV was used to annotate and classify CNVs, while VarElect was employed to prioritise CNVs based on clinical phenotypes. High-confidence CNVs were mapped to patient phenotypes and further interrogated for pathogenic potential using databases such as DECIPHER, ClinVar, Mouse Genome Informatics (MGI), and the Alliance of Genome Resources. Gene expression patterns utilized MGI, Zebrahub and CELLxGENE Discover. Finally, pathway enrichment and interaction analyses were performed using g:Profiler, the STRING database, and Cytoscape. Results Several and inherited CNVs were identified, including deletions and duplications involving key genes such as , , and , all of which are critically involved in craniofacial morphogenesis. In addition to known OFC-associated genes, the analysis identified novel CNV regions encompassing genes not previously linked to syndromic OFCs in humans, including , , , , and . These were prioritised based on their expression patterns in developmental models, suggesting potential functional relevance to OFC pathogenesis. Pathway enrichment analysis further identified significant biological processes associated with craniofacial, neurodevelopmental, and musculoskeletal development. Conclusion This study highlights the value of CNV analysis in studies on the genetic aetiology of OFCs and supports broader inclusion of African genomic data to identify population-specific aetiologic variants, thereby enhancing understanding of pathophysiology and clinical care. - Source: PubMed
Publication date: 2026/04/01
Quaynor Samuel KanorMensah Gideon OkyereBusch TamaraTsri BruceObiri-Yeboah SolomonSabbah Daniel KwesiAgbenorku PiusDonkor PeterButali AzeezGowans Lord Jephthah Joojo - Micro-CT has become the standard for the assessment of malformations in mouse embryos because it allows the visualisation of internal structures in the context of the intact embryo. Statistical comparison of volume differences is possible via manual segmentation of organs of interest from micro-CT scans, but this process is slow and laborious. Automated registration-based methods now exist that make the volumetric analysis of all organs feasible. Here, we expand the available atlases for use with the LAMA registration and analysis pipeline to include high-resolution population averages derived from phosphotungstic acid-stained C57BL/6J embryos and corresponding manually segmented atlases at embryonic stage (E) 12.5, E15.5, and E17.5. We report application of these population averages and atlases with the LAMA phenotyping pipeline to Wbp11 heterozygous null embryos, identifying defects previously reported in the cervical vertebrae, brain, nasal cavity, palate, liver and kidneys as well as a right aortic arch defects missed by manual analysis, and volume differences in the eyes and spinal cord. Finally, we report a high-resolution isolated E18.5 mouse heart population average and corresponding atlas that when applied to the Wbp11 line identified significant differences. These findings highlight the advantages of unbiased, volumetric and quantitative approaches in the analysis of mouse models of human disease. - Source: PubMed
Publication date: 2026/01/23
Martin Ella M M ADrover KyleShpak AntonHorner Neil RO'Reilly VictoriaCocking EmmaGreasby Joelene AIyer Kavitha R Arkell RuthDunwoodie Sally LChapman Gavin - We report the first prenatal diagnosis of a de novo WBP11 variant in a fetus with growth restriction and structural brain anomalies. The case highlights the challenges of counselling with a new and evolving gene-disease association. - Source: PubMed
Publication date: 2025/11/03
Gill GulvirO'Donovan KellyRubinfeld DinaMeagher SimonGoergen StacyHennington LucyFung AlisonDownie Lilian