Citations for
1CMTX1, GJB1, GJC2, PMLD1, SPG44
Diseases of connexins expressed in myelinating glia.
Abrams CK.
Neurosci Lett 695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23. Review. 2019
2GJC2, PMLD1
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.
Clin Genet 83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20. 2013
3GJC2, PMLD1
The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
Kim MS, Gloor GB, Bai D.
Biochem J 452(2):249-58. doi: 10.1042/BJ20121821. 2013
4GJC2, PMLD1
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
Combes P, Kammoun N, Monnier A, Gonthier-Guéret C, Giraud G, Bertini E, Chahnez T, Fakhfakh F, Boespflug-Tanguy O, Vaurs-Barrière C.
Ann Neurol 71(1):146-8. doi: 10.1002/ana.22295. Epub 2011 Jan 18. No abstract available. 2012
5GJB6, GJC2
Panglial gap junctional communication is essential for maintenance of myelin in the CNS.
Tress O, Maglione M, May D, Pivneva T, Richter N, Seyfarth J, Binder S, Zlomuzica A, Seifert G, Theis M, Dere E, Kettenmann H, Willecke K.
J Neurosci 32(22):7499-518. doi: 10.1523/JNEUROSCI.0392-12.2012. 2012
6GJC2, PMLD1
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.
Mol Genet Metab 104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8. 2011
7GJC2, LMPH1C
GJC2 missense mutations cause human lymphedema.
Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN.
Am J Hum Genet 86(6):943-8. Epub 2010 May 27.PMID: 20537300 2010
8GJC2, PMLD
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Diekmann S, Henneke M, Burckhardt BC, Gärtner J.
Eur J Hum Genet 18(9):985-92. 2010
9GJC2, PMLD1
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D.
Brain 2009 Jan 20. [Epub ahead of print] 2009
10GJC2, PMLD1
Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.
Ruf N, Uhlenberg B.
Am J Med Genet B Neuropsychiatr Genet 150B(2):226-32. 2009
11GJC2, PMLD1
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.
Neurology 70(10):748-54. Epub 2007 Dec 19. 2008
12GJC2, PMLD1
Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.
Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS.
Mol Cell Neurosci 34(4):629-41. Epub 2007 Jan 25. 2007
13AADACL3, AADACL4, ADCK3, AGBL1, AGBL4, ANKRD13C, ANKRD45, ATP13A2, B3GALT2, B3GALT4, B3GALT6, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, BLZF1, BSDC1, C1orf100, C1orf101, C1orf103, C1orf104, C1orf110, C1orf115, C1orf120, C1orf122, C1orf123, C1orf126, C1orf130, C1orf31, C1orf35, C1orf49, C1orf51, C1orf53, C1orf54, C1orf64, C1orf65, C1orf74, C1orf95, C1orf97, CCDC76, CCDC76, CCT3, COL16A1, DDX59, DENND2D, DNALI1, DPM3, FAM131C, FAM167B, FAM176B, FAM76A, FAM78B, FHAD1, FMO4, GJC2, GLUL, GNPAT, GPR157, GPR161, GPR89A, GPR89B, GPR89C, HMGN2, HSPB7, IBA57, ITGB3BP, KIAA1107, KLHL20, MAN1A2, MAP1LC3C, METTL11B, MLK4, MRTO4, NFYC, OR2M3, OR2M7, OR2T12, OR2T33, OR2T34, OR4F16, PEX10, PLA2G2D, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PTCH2, RC3H1, RGS18, RIMKLA, SEP15, SLC35D1, SMYD2, STX6, TBX15, TRIM62, TTLL7, VASH2, WLS, ZBTB18, ZMYM1, ZNF436, ZNF642
The DNA sequence and biological annotation of human chromosome 1.
Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E.
Nature 441(7091):315-21. 2006
14GJC2, PMLD1
Mutations in the Gene Encoding Gap Junction Protein alpha 12 (Connexin 46.6) Cause Pelizaeus-Merzbacher-Like Disease.
Uhlenberg B, Schuelke M, Ruschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nurnberg P, Hubner C, Weschke B, Gartner J.
Am J Hum Genet m J Hum Genet. 2004 Jun 10 [Epub ahead of print] 2004
15GJC2
Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.
Odermatt B, Wellershaus K, Wallraff A, Seifert G, Degen J, Euwens C, Fuss B, Büssow H, Schilling K, Steinhäuser C, Willecke K.
J Neurosci 23(11):4549-59. 2003