ArticleGene2010
Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.
Article in Gene, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- DNA methylation changes during acute COVID-19 are associated with long-term transcriptional dysregulation in patients' airway epithelial cells.EMBO molecular medicine · 2025Article
- Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly.Scientific reports · 2024Article
- Ciliary Dyneins and Dynein Related Ciliopathies.Cells · 2021Review
- RFX1: a promising therapeutic arsenal against cancer.Cancer cell international · 2021Review
- The transcriptional signature associated with human motile cilia.Scientific reports · 2020Article
- ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.Journal of molecular medicine (Berlin, Germany) · 2019Review
- ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA.Cell death & disease · 2018Article
- Characterization of the human RFX transcription factor family by regulatory and target gene analysis.BMC genomics · 2018Article
- Conditional ablation of the RFX4 isoform 1 transcription factor: Allele dosage effects on brain phenotype.PloS one · 2018Article
- Primary cilium and glioblastoma.Therapeutic advances in medical oncology · 2018Review
- Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.PloS one · 2017Article
- Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- Genetics and biology of primary ciliary dyskinesia.Paediatric respiratory reviews · 2016Review
- Upstream stimulatory factors 1 and 2 mediate the transcription of angiotensin II binding and inhibitory protein.The Journal of biological chemistry · 2013Article
- Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2013Article
- RFX2 is broadly required for ciliogenesis during vertebrate development.Developmental biology · 2012Article
- Alström syndrome: genetics and clinical overview.Current genomics · 2011Article
- Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.Developmental biology · 2011Article
- Alström syndrome: insights into the pathogenesis of metabolic disorders.Nature reviews. Endocrinology · 2011Review
- Regulatory Factor X (RFX)-mediated transcriptional rewiring of ciliary genes in animals.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy. ALMS1 encodes a centrosomal protein implicated in the assembly and maintenance of primary cilia. Expression of ALMS1 varies between tissues and recent data suggest that its transcription is modulated during adipogenesis and growth arrest. However the ALMS1 promoter has not been defined. This study focused on identifying and characterising the ALMS1 proximal promoter, initially by using 5' RACE to map transcription start sites. Luciferase reporter assay and EMSA data strongly suggest that ALMS1 transcription is regulated by the ubiquitous factor Sp1. In addition, reporter assay, EMSA, chromatin immunoprecipitation and RNA interference data indicate that ALMS1 transcription is regulated by regulatory factor X (RFX) proteins. These transcription factors are cell-type restricted in their expression profile and known to regulate genes of the ciliogenic pathway. We show binding of RFX proteins to an evolutionarily conserved X-box in the ALMS1 proximal promoter and present evidence that these proteins are responsible for ALMS1 transcription during growth arrest induced by low serum conditions. In summary, this work provides the first data on transcription factors regulating general and context-specific transcription of the disease-associated gene ALMS1.
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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.