Article
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
Human molecular genetics - 1 May 2012
Zhang Qihong, Seo Seongjin, Bugge Kevin, Stone Edwin M, Sheffield Val C
Abstract excerpt
There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. To evaluate the biological meaning of small effects is challenging. Bardet-Biedl syndrome (BBS) is a het...
Topics
- Animals
- Bardet-Biedl Syndrome
- Cells, Cultured
- Cilia
- Female
- Hedgehog Proteins
- Humans
- Male
- Mice
- Mice, Knockout
- Microtubule-Associated Proteins
- Mutant Proteins
- Patched Receptors
- Patched-1 Receptor
- Phenotype
- Pregnancy
- Receptors, Cell Surface
- Receptors, G-Protein-Coupled