Gene Information from Publications |
| Publication Link |
Summary of findings |
| 11024208 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11295246 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11545686 |
Observational study of genetic testing. (HuGE Navigator) |
| 11835375 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17200131 |
Observational study of genetic testing. (HuGE Navigator) |
| 17714866 |
This studies identified a L89P mutation for the first time in a CMTX1 family in China and an associated response to PMP22 in males. |
| 17546509 |
a cross-talk between CFTR and a variety of gap junction channels. Cytoskeletal scaffolding proteins and/or other intermediate cytoplasmic proteins are likely to play a role in CFTR-connexins interaction. |
| 17620124 |
Two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode. |
| 17565422 |
we refer to a new aspect of Cx32-dependent functions against cell proliferation, invasion and metastasis in RCC cells, especially in a GJIC-independent manner[review] |
| 12775342 |
A mutation of the Cx32 gene is identified, consisting of a guanine to adenine transition at position 271 (271G-A) in a large Turkish family (N=39) with Charcot-Marie-Tooth disease. |
| 12542510 |
These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy. |
| 14960772 |
molecular genetic analysis of the GJB1 gene in Charcot-Marie-Tooth type X1 disease |
| 16373087 |
This study identified a novel substitution T>C in the P2 promoter of GJB1 at position -529, in the SOX10 binding site S2 in a family with X-linked dominant Charcot-Marie-Tooth neuropathy. |
| 15334670 |
mRNA level correlates with cell differentiation, nd is predictive of postopoperative recurrence in hepatocellular carcinoma. |
| 14663144 |
Mutation (D178Y) that causes an inherited peripheral neuropathy induces a complete Ca2+ deregulation of Cx32 hemichannel activity. |
| 15704645 |
The connexin 32 were sparsely distributed In epithelial cells. |
| 16079393 |
Cx32 is prenylated, but that prenylation is not required for proper trafficking of Cx32 and perhaps not even for certain aspects of its function, in myelinating Schwann cells. |
| 16096811 |
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability. |
| 17052905 |
We describe an Italian family with an intermediate CMTX phenotype with late onset. Mutation screening of the GJB1 gene revealed a 9-bp duplication leading to the insertion of three aminoacids. |
| 12536289 |
G/A transition (Ala40Thr)in a conserved transmembrane region of the connexin-32 gene was also found associated with X-linked Charcot-Marie-Tooth disease |
| 12849984 |
Data show that connexin 32 (Cx32)-transfected HepG2 cells not only expressed a higher level of Cx32 mRNA, but also showed increased gap junctional intercellular communication. |
| 12205082 |
alpha-catenin facilitates trafficking of connexins 32 and 43 to the cell surface and induces gap junction assembly |
| 15006706 |
10 of 22 CMTX Cx32 mutations studied in the present investigation could lead to the assembly of defective Cx32 gap junctions, which in turn may result in peripheral neuropathy |
| 15508871 |
Nine patients had clinical features of X-linked dominant inheritance and a moderate Charcot-Marie-Tooth neuropathy phenotype showed a G-to-A transition at position -215 of the nerve-specific promoter P2 of the Cx32 gene. |
| 17372902 |
cytoplasmic Cx32 protein exerts effects favourable for HCC progression, such as invasion and metastasis, once the cells have acquired a malignant phenotype. |
| 11891346 |
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease |
| 12717835 |
gap junctional intercellular communication in hepatocellular carcinoma cell lines, and signal transduction mechanism of gap junction genes connexin32, connexin43 in hepatocarcinogenesis. |
| 15947997 |
A Charcot-Marie-Tooth syndrome in a family with a missense mutation in GJB1. |
| 17353473 |
Most GJB1 mutations cause neuropathy by a loss of normal connexin 32 function. |
| 17569045 |
Connexin 32 may contribute to the enhancement of vinorelbine-induced cytotoxicity in A549 lung cancer cells. |
| 15470753 |
This study identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. |
| 14688024 |
Transgenic mice with the mutant Cx32 gene are more susceptible to diethylnitrosamine-induced hepatocarcinogenesis, developing more liver tumors with shorter latency. |
| 15685554 |
Cpmmexom 32 was found intracellularly in activated hepatic stellate cells. |
| 12111842 |
Cx32 mutants that are associated with a CNS phenotype do not interact with Cx45, but may instead have other toxic effects in oligodendrocytes. |
| 12362307 |
A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing |
| 15703409 |
Human Cx32 protein "rescued" the phenotype of cx32-null mice. The transgenic mice have less demyelinated or remyelinated axons than nontransgenic littermates. Loss of Schwann-cell-autonomous expression of Cx32 is sufficient for demyelination in CMT1X. |
| 16790356 |
In transgenic mice that express the R142W mutation in myelinating Schwann cells, the Arg142Trp mutant protein is aberrantly localized to the Golgi, indicating that it does not traffic properly. |
