ReviewHuman genetics2021
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease.
Review in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 53 citations in OpenAlex.
- Evidence for dual pathways of Tc1/mariner domestication in Drosophila.BMC biology · 2026Article
- Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- PAX1/JAM3 methylation-a novel biomarker for early detection and accurate management of cervical adenocarcinoma.American journal of cancer research · 2026Review
- mRNA splicing in turkey muscle satellite cells is dynamically altered upon thermal challenge.PloS one · 2026Article
- Structural birth defects and leukemia risk in children with Down syndrome.Scientific reports · 2025Article
- Review
- Arthropod Pax Gene Evolution: A Role for Vanessa Cardui Twin of Eyeless in Eye Development.Molecular biology and evolution · 2025Article
- The potential role of PAX5 and PAX8 in regulating telomerase activity: a narrative mini-review.Molecular biology reports · 2025Review
- PAX Family, Master Regulator in Cancer.Diagnostics (Basel, Switzerland) · 2025Review
- Clinical Characteristics and Genetic Variants in Children withMedicina (Kaunas, Lithuania) · 2025Article
- The Pax transcription factor EGL-38 links EGFR signaling to assembly of a cell type-specific apical extracellular matrix in the Caenorhabditis elegans vulva.Developmental biology · 2025Article
- The Pax transcription factor EGL-38 links EGFR signaling to assembly of a cell-type specific apical extracellular matrix in thebioRxiv : the preprint server for biology · 2024Article
- Article
- Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.Molecular systems biology · 2024Article
- The Role of the PAX Genes in Renal Cell Carcinoma.International journal of molecular sciences · 2024Review
- PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.Cell communication and signaling : CCS · 2024Article
- Article
- Review
- Spotting the Pattern: A Review on White Coat Color in the Domestic Horse.Animals : an open access journal from MDPI · 2024Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 4 countries.
Funding
Abstract
Paired-box (PAX) genes encode a family of highly conserved transcription factors found in vertebrates and invertebrates. PAX proteins are defined by the presence of a paired domain that is evolutionarily conserved across phylogenies. Inclusion of a homeodomain and/or an octapeptide linker subdivides PAX proteins into four groups. Often termed "master regulators", PAX proteins orchestrate tissue and organ development throughout cell differentiation and lineage determination, and are essential for tissue structure and function through maintenance of cell identity. Mutations in PAX genes are associated with myriad human diseases (e.g., microphthalmia, anophthalmia, coloboma, hypothyroidism, acute lymphoblastic leukemia). Transcriptional regulation by PAX proteins is, in part, modulated by expression of alternatively spliced transcripts. Herein, we provide a genomics update on the nine human PAX family members and PAX homologs in 16 additional species. We also present a comprehensive summary of human tissue-specific PAX transcript variant expression and describe potential functional significance of PAX isoforms. While the functional roles of PAX proteins in developmental diseases and cancer are well characterized, much remains to be understood regarding the functional roles of PAX isoforms in human health. We anticipate the analysis of tissue-specific PAX transcript variant expression presented herein can serve as a starting point for such research endeavors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.