ArticlePhysiological genomics2011
Distinct genetic regions modify specific muscle groups in muscular dystrophy.
Article in Physiological genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00138931 (Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.), which is not on this map. Cited by 20 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Anti-latent TGFβ binding protein 4 antibody improves muscle function and reduces muscle fibrosis in muscular dystrophy.Science translational medicine · 2021Article
- Dusp6 is a genetic modifier of growth through enhanced ERK activity.Human molecular genetics · 2019Article
- Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.PLoS genetics · 2017Article
- Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ.PLoS genetics · 2016Article
- Myocardial Contractile Dysfunction Is Present without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and Is Prevented after Claudin-5 Virotherapy.Frontiers in physiology · 2016Article
- Modifier genes and their effect on Duchenne muscular dystrophy.Current opinion in neurology · 2015Review
- Targeting latent TGFβ release in muscular dystrophy.Science translational medicine · 2014Article
- Collagen content does not alter the passive mechanical properties of fibrotic skeletal muscle in mdx mice.American journal of physiology. Cell physiology · 2014Article
- Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.Human molecular genetics · 2014Article
- Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Modifiers of heart and muscle function: where genetics meets physiology.Experimental physiology · 2014Review
- Reduced IGF signaling prevents muscle cell death in a Caenorhabditis elegans model of muscular dystrophy.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Modifying muscular dystrophy through transforming growth factor-β.The FEBS journal · 2013Review
- LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.Annals of neurology · 2013Article
- Genetic mutations and mechanisms in dilated cardiomyopathy.The Journal of clinical investigation · 2013Review
- The superhealing MRL background improves muscular dystrophy.Skeletal muscle · 2012Article
- Interplay between heart and skeletal muscle disease in heart failure: the 2011 George E. Brown Memorial Lecture.Circulation research · 2012Article
- δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.Skeletal muscle · 2011Article
- Cardiac function in muscular dystrophy associates with abdominal muscle pathology.Journal of neuromuscular diseasesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Phenotypic expression in the muscular dystrophies is variable, even with the identical mutation, providing strong evidence that genetic modifiers influence outcome. To identify genetic modifier loci, we used quantitative trait locus mapping in two differentially affected mouse strains with muscular dystrophy. Using the Sgcg model of limb girdle muscular dystrophy that lacks the dystrophin-associated protein γ-sarcoglycan, we evaluated chromosomal regions that segregated with two distinct quantifiable characteristics of muscular dystrophy, membrane permeability and fibrosis. We previously identified a single major locus on murine chromosome 7 that influences both traits of membrane permeability and fibrosis in the quadriceps muscle. Using a larger cohort, we now found that this same interval strongly associated with both traits in all limb skeletal muscle groups studied, including the gastrocnemius/soleus, gluteus/hamstring, and triceps muscles. In contrast, the muscles of the trunk were modified by distinct genetic loci, possibly reflecting the embryological origins and physiological stressors unique to these muscle groups. A locus on chromosome 18 was identified that modified membrane permeability of the abdominal muscles, and a locus on chromosome 3 was found that regulated diaphragm and abdominal muscle fibrosis. Fibrosis in the heart associated with a region on chromosome 9 and likely reflects differential function between cardiac and skeletal muscle. These data underscore the complexity of inheritance and penetrance of single-gene disorders.
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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.