ArticleArchives of medical science : AMS2011
Is 8860 variation a rare polymorphism or associated as a secondary effect in HCM disease?
Article in Archives of medical science : AMS, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 22 citations in OpenAlex.
- A hierarchical Bayesian framework for inferring mitochondrial clonal selection from single-cell data.Research square · 2026Article
- Mitochondrial DNA Changes in Genes of Respiratory Complexes III, IV and V Could Be Related to Brain Tumours in Humans.International journal of molecular sciences · 2022Article
- Mitochondria: Endosymbiont bacteria DNA sequence as a target against cancer.Cancer science · 2021Review
- Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.Human mutation · 2020Article
- Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms.Cell journal · 2018Article
- Comparison of Pre- and Post-translational Expressions ofJournal of carcinogenesis & mutagenesis · 2018Article
- Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.Archives of medical science : AMS · 2016Article
- Expression and clinical significance of cytochrome c oxidase subunit IV in colorectal cancer patients.Archives of medical science : AMS · 2016Article
- Comparison of sublingual isosorbide dinitrate and Valsalva maneuver for detection of obstruction in hypertrophic cardiomyopathy.Archives of medical science : AMS · 2015Article
- The mitochondrial ATPase6 gene is more susceptible to mutation than the ATPase8 gene in breast cancer patients.Cancer cell international · 2014Article
- The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.Journal of human genetics · 2014Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionmtDNA defects, both deletions and point mutations, have been associated with hypertrophic cardiomyopathies. The aim of this study was to establish a spectrum for mtDNA mutations in Iranian hypertrophic cardiomyopathy (HCM) patients. MATERIAL AND
methodsThe control group was chosen among the special medical centre visitors who did not have hypertrophic cardiomyopathy or any related heart disease. Hypertrophic cardiomyopathy (HCM) is widely accepted as a pluricausal or multifactorial disease. Because of the linkage between energy metabolism in the mitochondria and cardiac muscle contraction, it is reasonable to assume that mitochondrial abnormalities may be responsible for some forms of HCM. Point mutations and deletions in the two hot spot regions of mtDNA were investigated by PCR and sequencing methods.
resultsSome unreported point mutations have been found in this study but no deletion was detected. Meanwhile some of these point mutations have been investigated among HCM patients for the first time.
conclusionsA8860G transition was detected in a high proportion, raising the question whether this rare polymorphism is associated as a secondary effect in HCM disease.
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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.