- About
- Home
- Introduction
- Statistics
- Programs
- Dignet
- Gene
- GenePair
- BioSummarAI
- Help & Docs
- Documents
- Help
- FAQs
- Links
- Acknowledge
- Disclaimer
- Contact Us
Gene Information
Gene symbol: CMTX2
Gene name:
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | INF2 | 1 hits |
| 2 | MPZ | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 16162811 | Mutations in the P0 gene are associated with one form of autosomal dominant demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1B (CMT1B). |
| 2 | 26086034 | Human Kidney Disease-causing INF2 Mutations Perturb Rho/Dia Signaling in the Glomerulus. |
| 3 | 26086034 | Mutations in Inverted Formin 2 (INF2), a diaphanous formin family protein that regulates actin cytoskeleton dynamics, cause focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth Disease (CMT) in humans. |
| 4 | 26086034 | In addition to directly remodeling actin filaments in vitro, we have shown that INF2 regulates intracellular actin dynamics and actin dependent cellular behavior by opposing Rhoa/Dia signaling. |
| 5 | 26086034 | The edema, podocyte dysfunction, and an altered glomerular filtration barrier observed in the zebrafish pronephros correlate with mistrafficking of glomerular slit diaphragm proteins, defective slit-diaphragm signaling, and disinhibited diaphanous formin (mDia) activity. |
| 6 | 26086034 | Of particular interest, this INF2 knockdown phenotype is also rescued by loss of either RhoA or Dia2. |
| 7 | 26086034 | This simple assay allows the demonstration that INF2 functions, at least in part, to modulate Dia-mediated Rho signaling, and that disease causing mutations specifically impair this regulatory function. |
| 8 | 26086034 | These data support a model in which disease-associated diaphanous inhibitory domain (DID) mutants in INF2 interfere with its binding to and inhibition of Dia, leading to uncontrolled Rho/Dia signaling and perturbed actin dynamics. |