Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
+1 credit
Thank you for your contribution! You can also upload a video entry or images related to this topic.
For video creation, please contact our Academic Video Service.
| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
|---|---|---|---|---|---|---|
| 1 | Vivi Li | + 502 word(s) | 502 | 2020-12-15 07:54:41 |
Video Upload Options
We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. GJB1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5653 (accessed on 21 September 2026).
Li V. GJB1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5653. Accessed September 21, 2026.
Li, Vivi. "GJB1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5653 (accessed September 21, 2026).
Li, V. (2020, December 25). GJB1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5653
Li, Vivi. "GJB1 Gene." Encyclopedia. Web. 25 December, 2020.
Copy Citation
Gap junction protein beta 1
genes
References
- Abrams CK, Freidin M. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. Cell Tissue Res.2015 Jun;360(3):659-73. doi: 10.1007/s00441-014-2014-6.
- Baker SK, Reith CC, Ainsworth PJ. Novel 95G>A (R32K) somatic mosaic connexin32 mutation. Muscle Nerve. 2008 Nov;38(5):1510-1514. doi: 10.1002/mus.21145.
- Kleopa KA, Abrams CK, Scherer SS. How do mutations in GJB1 cause X-linkedCharcot-Marie-Tooth disease? Brain Res. 2012 Dec 3;1487:198-205. doi:10.1016/j.brainres.2012.03.068.
- Kleopa KA, Sargiannidou I. Connexins, gap junctions and peripheral neuropathy.Neurosci Lett. 2015 Jun 2;596:27-32. doi: 10.1016/j.neulet.2014.10.033.
- Ressot C, Bruzzone R. Connexin channels in Schwann cells and the developmentof the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev.2000 Apr;32(1):192-202. Review.
- Sargiannidou I, Markoullis K, Kleopa KA. Molecular mechanisms of gap junction mutations in myelinating cells. Histol Histopathol. 2010 Sep;25(9):1191-206. doi:10.14670/HH-25.1191. Review.
- Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, Kleopa KA. Connexin32 mutations cause loss of function in Schwann cells andoligodendrocytes leading to PNS and CNS myelination defects. J Neurosci. 2009 Apr15;29(15):4736-49. doi: 10.1523/JNEUROSCI.0325-09.2009.
- Scherer SS, Kleopa KA. X-linked Charcot-Marie-Tooth disease. J Peripher NervSyst. 2012 Dec;17 Suppl 3:9-13. doi: 10.1111/j.1529-8027.2012.00424.x. Review.
- Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY. Functional analysis ofconnexin-32 mutants associated with X-linked dominant Charcot-Marie-Toothdisease. Neurobiol Dis. 2004 Mar;15(2):361-70.
- Wang Y, Yin F. A Review of X-linked Charcot-Marie-Tooth Disease. J ChildNeurol. 2016 May;31(6):761-72. doi: 10.1177/0883073815604227.Review.
More
Information
Subjects:
Genetics & Heredity
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
:
View Times:
845
Entry Collection:
MedlinePlus
Revision:
1 time
(View History)
Update Date:
25 Dec 2020
Table of Contents
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
Back
Comments
${ item }
|
${ item.createdUser.fullName }
${ item.createdAt }
${ item.vote }
${ item.reply }
Delete
${ reply.createdUser.fullName }
${ reply.createdAt }
${ reply.vote }
Delete
There is no reply to this comment~
${ item.replyTextCharacter }/${ item.replyMaxCharacter }
Submit
Cancel
More
No more~
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes
No