ArticleProceedings of the National Academy of Sciences of the United States of America1998
SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 121 citations in OpenAlex.
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- Temporal constraints on enhancer usage shape the regulation of limb gene transcription.Nature communications · 2026Article
- Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides.Frontiers in endocrinology · 2026Article
- Comparative Analysis of Aging-related Metabolic and Biological Markers between Cancer Survivors and Healthy Populations: A Systematic Review.Journal of cancer prevention · 2025Review
- Diagnostic accuracy of SHOX-2 methylation for malignant pleural effusion: a systematic review and meta-analysis.Translational cancer research · 2025Article
- The subfunctionalization ofFrontiers in cell and developmental biology · 2025Article
- MiR-24-1-5p Hinders Malignant Phenotypes of Clear Cell Renal Cell Carcinoma by Targeting SHOX2.Biochemical genetics · 2023Article
- Machine learning compensates fold-change method and highlights oxidative phosphorylation in the brain transcriptome of Alzheimer's disease.Scientific reports · 2021Article
- The Transcription Factor Shox2 Shapes Neuron Firing Properties and Suppresses Seizures by Regulation of Key Ion Channels in Thalamocortical Neurons.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- The Role of Liquid Biopsy in Early Diagnosis of Lung Cancer.Frontiers in oncology · 2021Review
- Analysis of the Prognostic Value and Gene Expression Mechanism ofFrontiers in molecular biosciences · 2021Article
- Signaling pathways and clinical application of RASSF1A and SHOX2 in lung cancer.Journal of cancer research and clinical oncology · 2020Review
- Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.JCI insight · 2019Article
- Seven genes for the prognostic prediction in patients with glioma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2019Article
- Article
- Applying circulating tumor DNA methylation in the diagnosis of lung cancer.Precision clinical medicine · 2019Review
- Clinical applications of liquid biopsies for early lung cancer detection.American journal of cancer research · 2019Review
- Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface.Journal of anatomy · 2018Article
- AInternational journal of medical sciences · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome. We have identified a human paired-related homeobox gene, SHOT, by virtue of its homology to the human SHOX and mouse OG-12 genes. Two different isoforms were isolated, SHOTa and SHOTb, which have identical homeodomains and share a C-terminal 14-amino acid residue motif characteristic for craniofacially expressed homeodomain proteins. Differences between SHOTa and b reside within the N termini and an alternatively spliced exon in the C termini. In situ hybridization of the mouse equivalent, OG-12, on sections from staged mouse embryos detected highly restricted transcripts in the developing sinus venosus (aorta), female genitalia, diencephalon, mes- and myelencephalon, nasal capsula, palate, eyelid, and in the limbs. SHOT was mapped to human chromosome 3q25-q26 and OG-12 within a syntenic region on chromosome 3. Based on the localization and expression pattern of its mouse homologue during embryonic development, SHOT represents a candidate for the Cornelia de Lange syndrome.
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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.