Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
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 + 921 word(s) 921 2020-12-15 07:54:39

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. GJA1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5652 (accessed on 21 September 2026).
Li V. GJA1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5652. Accessed September 21, 2026.
Li, Vivi. "GJA1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5652 (accessed September 21, 2026).
Li, V. (2020, December 25). GJA1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5652
Li, Vivi. "GJA1 Gene." Encyclopedia. Web. 25 December, 2020.
GJA1 Gene
Edit

Gap junction protein alpha 1

genes

References

  1. Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, LiftonRP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 CauseErythrokeratodermia Variabilis et Progressiva, without Features ofOculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi:10.1038/jid.2014.485.
  2. Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH. Mutations of theConnexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995 May 18;332(20):1323-9.
  3. Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH.Identification of connexin43 (alpha1) gap junction gene mutations in patientswith hypoplastic left heart syndrome by denaturing gradient gel electrophoresis(DGGE). Mutat Res. 2001 Aug 8;479(1-2):173-86.
  4. Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W,Devriendt K, Fryns JP. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87.
  5. Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K,Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missensemutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug12;8(8):e73576. doi: 10.1371/journal.pone.0073576.
  6. Moorer MC, Hebert C, Tomlinson RE, Iyer SR, Chason M, Stains JP. Defectivesignaling, osteoblastogenesis and bone remodeling in a mouse model of connexin 43C-terminal truncation. J Cell Sci. 2017 Feb 1;130(3):531-540. doi:10.1242/jcs.197285.
  7. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutationscause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet.2003 Feb;72(2):408-18.
  8. Richardson R, Donnai D, Meire F, Dixon MJ. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J MedGenet. 2004 Jan;41(1):60-7.
  9. Talbot J, Brion R, Lamora A, Mullard M, Morice S, Heymann D, Verrecchia F.Connexin43 intercellular communication drives the early differentiation of human bone marrow stromal cells into osteoblasts. J Cell Physiol. 2018Feb;233(2):946-957. doi: 10.1002/jcp.25938.
  10. Van Norstrand DW, Asimaki A, Rubinos C, Dolmatova E, Srinivas M, Tester DJ,Saffitz JE, Duffy HS, Ackerman MJ. Connexin43 mutation causes heterogeneous gapjunction loss and sudden infant death. Circulation. 2012 Jan 24;125(3):474-81.doi: 10.1161/CIRCULATIONAHA.111.057224.
  11. van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M,Steijlen PM, van Geel M. A 2-bp deletion in the GJA1 gene is associated withoculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A.2005 Jan 15;132A(2):171-4.
  12. Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X,Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y. Exome sequencing revealsmutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalissyndrome. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442.
  13. Wu Q, Wu Y, Zhang L, Zheng J, Tang S, Cheng J. GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population. Forensic Sci Int. 2017 Jan;270:178-182. doi: 10.1016/j.forsciint.2016.12.006.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 805
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service