2024年12月25日 · PAX1 (Paired Box 1) is a Protein Coding gene. Diseases associated with PAX1 include Otofaciocervical Syndrome 2, With T-Cell Deficiency and Fara Chlupackova Syndrome. An important paralog of this gene is PAX9.

Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. [5][6] This gene is a member of the paired box (PAX) family of transcription factors which are essential during fetal development. It is required for the development of the ventral vertebral column.

2022年10月27日 · Herein, we summarize the expression and functions of PAX1 in skeletal system and thymus development, as well as cancer biology and outline its cellular and molecular modes of action and the association of PAX1 mutation or dysregulation with human diseases, thus providing insights for the molecular basis of congenital diseases and cancers.

PAX1 is a member of the paired box (PAX) family of transcription factors and plays a critical role in pattern formation during embryogenesis. It is expressed in the pharyngeal pouches that give rise to the thymus, tonsils, parathyroid glands, thyroid, and middle ear development during human embryogenesis (2).

2022年10月28日 · Herein, we summarize the expression and functions of PAX1 in skeletal system and thymus development, as well as cancer biology and outline its cellular and molecular modes of action and the association of PAX1 mutation or dysregulation with human diseases, thus providing insights for the molecular basis of congenital diseases and cancers.

2024年12月27日 · 质编码基因启动子的鸟嘌呤(CpG )之前的胞嘧啶中。配对盒基因1(Paired‐box gene 1 ,PAX1), 是PAX基因家族中的一员,以配对盒DNA 结合结构域� � 名,对胚胎中的组织发育和细胞分化至关重要[ 4]。PAX1已被证实是在多种癌症中是肿瘤抑制基因。PAX1 可以通过与

2020年2月28日 · We identified rare biallelic PAX1 rare variants in all patients. We demonstrated that these mutant PAX1 proteins have an altered conformation and flexibility of the paired box domain and reduced transcriptional activity.

We identified PAX1 as a novel disease-causing gene for otofaciocervical syndrome and show that the pooling of DNA from affected individuals can reduce the number of putative disease-causing homozygous variants in consanguineous families. PAX1 hypermethylation is associated with cervical cancer. Observational study of gene-disease association.

2021年6月15日 · The PAX genes, including PAX1, are a highly conserved family of developmental control genes that encode transcription factors and have been shown to play a role in pattern formation during embryogenesis in vertebrates (summary by McGaughran et al., 2003). See PAX7 (167410) for a discussion of paired box domain genes.

2022年7月25日 · Here we have identified a multi-generational family with mild features of OAVS segregating a heterozygous frameshift in PAX1. The four base duplication is expected to result in nonsense-mediated...