ArticleProceedings of the National Academy of Sciences of the United States of America2000
Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 82 citations in OpenAlex.
- SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development.Anatomical record (Hoboken, N.J. : 2007) · 2026Article
- Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Review
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- Copy Number Variation of theAnimals : an open access journal from MDPI · 2022Article
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- Sox6, A Potential Target for MicroRNAs in Cardiometabolic Disease.Current hypertension reports · 2022Review
- Detection and identification of cis-regulatory elements using change-point and classification algorithms.BMC genomics · 2022Article
- Systematic identification of aberrant non-coding RNAs and their mediated modules in rotator cuff tears.Frontiers in molecular biosciences · 2022Article
- Epigenome-Wide Association Study Reveals Differential Methylation Sites and Association of Gene Expression Regulation with Ischemic Moyamoya Disease in Adults.Oxidative medicine and cellular longevity · 2022Article
- Alternate Roles of Sox Transcription Factors beyond Transcription Initiation.International journal of molecular sciences · 2021Review
- Sarcomere function activates a p53-dependent DNA damage response that promotes polyploidization and limits in vivo cell engraftment.Cell reports · 2021Article
- Physiological and Aberrant γ-Globin Transcription During Development.Frontiers in cell and developmental biology · 2021Review
- Emerging roles of Sox6 in the renal and cardiovascular system.Physiological reports · 2020Review
- Genetic variants on chromosomes 7p31 and 12p12 are associated with abnormal atrial electrical activation in patients with early-onset lone atrial fibrillation.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2019Article
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- Unravelling pathways downstream Sox6 induction in K562 erythroid cells by proteomic analysis.Scientific reports · 2017Article
- SOX6 Downregulation InducesBioMed research international · 2017Article
- Electrical stimulation influences chronic intermittent hypoxia-hypercapnia induction of muscle fibre transformation by regulating the microRNA/Sox6 pathway.Scientific reports · 2016Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
The mouse p locus encodes a gene that functions in normal pigmentation. We have characterized a radiation-induced mutant allele of the mouse p locus that is associated with a failure-to-thrive syndrome, in addition to diminished pigmentation. Mice homozygous for this mutant allele, p(100H), show delayed growth and die within 2 wk after birth. We have discovered that the mutant mice develop progressive atrioventricular heart block and significant ultrastructural changes in both cardiac and skeletal muscle cells. These observations are common characteristics described in human myopathies. The karyotype of p(100H) chromosomes indicated that the mutation is associated with a chromosome 7 inversion. We demonstrate here that the p(100H) chromosomal inversion disrupts both the p gene and the Sox6 gene. Normal Sox6 gene expression has been examined by Northern blot analysis and was found most abundantly expressed in skeletal muscle in adult mouse tissues, suggesting an involvement of Sox6 in muscle maintenance. The p(100H) mutant is thus a useful animal model in the elucidation of myopathies at the molecular level.
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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.