ArticleThe Journal of cell biology2001
PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.
Article in The Journal of cell biology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 87 citations in OpenAlex.
- 3D epigenomic landscape of the human retinal pigment epithelium.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- First Characterization of the Transcriptome of Lung Fibroblasts of SSc Patients and Healthy Donors of African Ancestry.International journal of molecular sciences · 2023Article
- PLODs: Novel prognostic biomarkers and potential immunotherapy targets for head and neck squamous cell carcinoma.Heliyon · 2023Article
- Aberrant expression ofInternational journal of ophthalmology · 2023Article
- PLOD Family: A Novel Biomarker for Prognosis and Personalized Treatment in Soft Tissue Sarcoma.Genes · 2022Article
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase Family: Novel Prognostic Biomarkers and Tumor Microenvironment Regulators for Lower-Grade Glioma.Frontiers in cellular neuroscience · 2022Article
- Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.Indian journal of ophthalmology · 2021Article
- The relationship between PLOD1 expression level and glioma prognosis investigated using public databases.PeerJ · 2021Article
- Single-cell transcriptomes of pancreatic preinvasive lesions and cancer reveal acinar metaplastic cells' heterogeneity.Nature communications · 2020Article
- Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival.Molecular carcinogenesis · 2019Article
- Article
- MEAT SCIENCE AND MUSCLE BIOLOGY SYMPOSIUM: BIOLOGICAL INFLUENCERS OF MEAT PALATABILITY: Production factors affecting the contribution of collagen to beef toughness1,2.Journal of animal science · 2019Review
- PITX2 deficiency and associated human disease: insights from the zebrafish model.Human molecular genetics · 2018Article
- Roles of PLODs in Collagen Synthesis and Cancer Progression.Frontiers in cell and developmental biology · 2018Review
- Genetic dissection of anterior segment dysgenesis caused by aDisease models & mechanisms · 2017Article
- Exploratory bioinformatics investigation reveals importance of "junk" DNA in early embryo development.BMC genomics · 2017Article
- Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Investigative ophthalmology & visual science · 2015Article
- Identification of the GTPase-activating protein DEP domain containing 1B (DEPDC1B) as a transcriptional target of Pitx2.Experimental cell research · 2015Article
- PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.PloS one · 2015Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. The Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase. Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI.
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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.