Concepedia

Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans

Ruth Casey, Mary A. McLean, Benjamin Challis, Terri McVeigh, Anne Y. Warren, Lee Mendil, Richard Houghton, Stefano de Sanctis, Vasilis Kosmoliaptsis, Richard Sandford,

Clinical Cancer Research · 2019 · 14 citations · 17 references

DOIFull text

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Abstract

This study demonstrates that <i>in vivo</i> detection of fumarate could be employed as a functional biomarker.

References

17

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

S. E. Olpin · Nature Genetics · 2002 · 1.6K citations

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

Dewi Astuti, Farida Latif, Ashraf Dallol et al. · The American Journal of Human Genetics · 2001 · 1.1K citations · Full text

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SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

Éric Letouzé, Cosimo Martinelli, Céline Loriot et al. · Cancer Cell · 2013 · 758 citations · Full text

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Inherited susceptibility to uterine leiomyomas and renal cell cancer

Virpi Launonen, Outi Vierimaa, Maija Kiuru et al. · Proceedings of the National Academy of Sciences · 2001 · 670 citations · Full text

Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America

Jorge R. Toro, Michael L. Nickerson, Ming-Hui Wei et al. · The American Journal of Human Genetics · 2003 · 628 citations · Full text

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