Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

By C. Toomes, H. M. Bottomley, R. Jackson, Katherine V. Towns, S. Scott, D. Mackey, J. Craig, Li Jiang, Zhenglin Yang, R. Trembath and 8 more. American Journal of Human Genetics, 2004

375 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/f6aafb26c0a764594d2dce221e02a2a0f1f72e48

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In Molecular Biology

1. Xi He
2. A. D. Kohn
3. R. Moon
4. R. Hen
5. Mikhail V. Semenov
6. K. Tamai
7. G. Karsenty
8. P. Ducy

Citations in the corpus

• Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum: an entero-bone endocrine axis (2008, result): “Third, there was in three OPPG patients tested (Gong et al., 2001; Toomes et al., 2004) a 4- to 5-fold increase in circulating serotonin levels when compared to age-matched controls; moreover, the heterozygous parent of one of these patients also had higher circulating serotonin levels than control…”
• LDL receptor-related proteins 5 and 6 in Wnt/β-catenin signaling: Arrows point the way (2004, background): “These patients, like the obligate OPPG carriers (parents of OPPG patients) (Gong et al., 2001), also exhibit low bone mass (Toomes et al., 2004).”
• WNT and β-catenin signalling: diseases and therapies (2004, background): “Although genetically heterogeneous, positional cloning of FEVR loci has revealed that loss-of-function mutations in the putative WNT receptor FZ4, and the co-receptor LRP5, underlie many cases of FEV”