Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

By Xiaoling Wang, V. Sutton, J. O. Peraza-Llanes, Zhiyin Yu, R. Rosetta, Y. Kou, Tanya N Eble, Ankita Patel, Christina Thaller, P. Fang and 1 more. 2007

279 citations recorded by the source corpus.

Subfields: Cell Biology, Molecular Biology

How researchers see this paper

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

In Cell Biology

1. M. Resh
2. D. Virshup

In Molecular Biology

1. R. Hendrickson
2. Matthew M. Miele
3. J. Asciolla
4. Jonathan Kim
5. O. Clarke
6. G. Parisi
7. M. Resh
8. F. Mancia

Citations in the corpus

• Wnt/β-catenin signaling and disease. (2012, unknown): “This disease is characterized by skin abnormalities and other developmental defects (Grzeschik et al., 2007; Wang et al., 2007).”
• Structural basis of WLS/Evi-mediated Wnt transport and secretion (2020, background): “Loss of function mutations in PORCN, an X-linked gene, are lethal in males (Grzeschik et al., 2007; Wang et al., 2007), while drugs that inhibit PORCN are effective treatment for Wnt-addicted cancers in preclinical models and are currently in ongoing clinical trials (Zhong and Virshup, 2020).”
• Precise Regulation of Porcupine Activity Is Required for Physiological Wnt Signaling (2012, background): “Analysis of PORCNMutations Associated with FDH—Inherited and postzygotic mutations in the PORCN gene cause the disorder focal dermal hypoplasia (33, 34).”
• Targeting Protein Lipidation in Disease (2012, background): “Mutations in the Porcn gene in humans cause Goltz syndrome or focal dermal hypoplasia, an X-linked dominant disorder characterized by multiple skin malformations [55].”
• An in vitro fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine (2017, background): “Mutations in the PORCN gene cause focal dermal hypoplasia, an X-linked disorder characterized by multiple congenital abnormalities (16).”