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 …

2022年10月27日 · Transcription factors play multifaceted roles in embryonic development and diseases. PAX1, a paired-box transcription factor, has been elucidated to play key roles in …

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 …

Pax1 deficiency in mice is characterized by anomalies of the vertebral column and variable degrees of thymic hypoplasia and thymocyte number and maturation (3–5).

These results identify bi-allelic, loss-of-function PAX1 mutations as the cause of a syndromic form of SCID due to altered thymus development. One Sentence Summary. PAX1 deficiency …

2022年7月25日 · Our findings indicate there can be monoallelic and biallelic disorders associated with PAX1, and further implicate the PSED network in OAVS.

2022年10月28日 · PAX1, a paired-box transcription factor, has been elucidated to play key roles in multiple tissues during embryonic development by extensive studies. Recently, an emerging …

2021年6月15日 · The Pax1 gene is required for the normal development of 3 skeletal elements in the mouse: the vertebral column, sternum, and scapula. Three natural Pax1 mouse mutants …

2020年2月28日 · These results identify biallelic, loss-of-function PAX1 mutations as the cause of a syndromic form of SCID due to altered thymus development.

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 …