| Title |
Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)
|
|---|---|
| Published in |
PLOS ONE, March 2012
|
| DOI | 10.1371/journal.pone.0032331 |
| Pubmed ID | |
| Authors |
Wei Liu, Timothy M. Shaver, Alfred Balasa, M. Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, Ignatia B. Van den Veyver |
| Abstract |
Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue homeostasis and stem cell maintenance. Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Australia | 1 | 2% |
| Unknown | 44 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 24% |
| Student > Ph. D. Student | 8 | 17% |
| Professor | 4 | 9% |
| Student > Doctoral Student | 4 | 9% |
| Student > Master | 4 | 9% |
| Other | 6 | 13% |
| Unknown | 9 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 19 | 41% |
| Biochemistry, Genetics and Molecular Biology | 8 | 17% |
| Medicine and Dentistry | 4 | 9% |
| Psychology | 1 | 2% |
| Computer Science | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 11 | 24% |