Myostatin mutation associated with gross muscle hypertrophy in a child.

By M. Schuelke, K. Wagner, Leslie E Stolz, C. Hübner, T. Riebel, Wolfgang Kömen, T. Braun, J. Tobin, Se-Jin Lee. New England Journal of Medicine, 2004

1,314 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/2c20a3d0e323af3b9e6375d214d6d257318daaa5

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cardiology and Cardiovascular Medicine

1. A. Goldberg
2. P. Bonaldo
3. M. Sandri

In Genetics

1. M. Sandri
2. A. Goldberg
3. P. Bonaldo
4. D. Glass
5. Carlos D. Bustamante
6. J. Hawley
7. Vernon G. Coffey
8. Simon Gravel

In Molecular Biology

1. M. Sandri
2. A. Goldberg
3. P. Bonaldo
4. D. Glass
5. K. Fearon
6. D. Guttridge
7. D. Lacey
8. Carlos D. Bustamante

Citations in the corpus

• Cachexia: pathophysiology and clinical relevance. (2006, background): “Recently, a double myostatin deletion was identified in a 1-y-old child with extreme muscle hypertrophy (44).”
• A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep (2006, background): “Indeed, myostatin protein is detected in serum of wild-type mice and humans but is absent in serum of mice and humans homozygous for GDF8 loss-of-function mutation”
• Cellular and molecular mechanisms of muscle atrophy (2013, background): “Mutations of the myostatin gene lead to a hypertrophic phenotype in mice, sheep and cattle, and a lossof-function mutation in the human myostatin gene was also found to induce increased muscle mass (Clop et al., 2006; Lee and McPherron, 2001; McPherron and Lee, 1997; Schuelke et al., 2004).”
• Sarcopenia: Its assessment, etiology, pathogenesis, consequences and future perspectives (2008, background): “Myostatin is a recently discovered natural inhibitor of muscle growth (290), and mutations in the myostatin gene result in muscle hypertrophy in animals and in humans (291, 292).”
• MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice. (2009, background): “Myostatin stood out as an interesting candidate, given its role as a repressor of hypertrophic growth in skeletal muscle (36, 37).”
• A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs (2007, background): “To date, the muscular hypertrophy phenotype has been described in a single human child [8].”
• Reversal of cancer cachexia and muscle wasting by ActRIIB antagonism leads to prolonged survival. (2010, background): “Myostatin null mutations also lead to skeletal muscle hypertrophy in multiple species including humans, whereas forced myostatin overexpression in adult mice leads to systemic muscle wasting (Schuelke et al., 2004; Zimmers et al., 2002).”
• Cancer cachexia: mediators, signaling, and metabolic pathways. (2012, background): “In contrast to TNFa, circulating levels of IL-6 have been shown to correlate with weight loss in cancer patients, and importantly, IL-6 levels correlate with reduced survival (Scott et al., 1996; Moses et al., 2009).”