GJC2

An Error has occured retrieving Wikidata item for infobox GJC2‏ (Gap junction protein gamma 2) هوَ بروتين يُشَفر بواسطة جين GJC2 في الإنسان.

قراءة متعمقة

• Ostergaard P، Simpson MA، Brice G، وآخرون (2011). "Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype". J. Med. Genet. ج. 48 ع. 4: 251–5. DOI:10.1136/jmg.2010.085563. PMID:21266381.
• Odermatt B، Wellershaus K، Wallraff A، وآخرون (2003). "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". J. Neurosci. ج. 23 ع. 11: 4549–59. PMID:12805295.
• Menichella DM، Goodenough DA، Sirkowski E، وآخرون (2003). "Connexins are critical for normal myelination in the CNS". J. Neurosci. ج. 23 ع. 13: 5963–73. PMID:12843301.
• Salviati L، Trevisson E، Baldoin MC، وآخرون (2007). "A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease". Neurogenetics. ج. 8 ع. 1: 57–60. DOI:10.1007/s10048-006-0065-x. PMID:17031678.
• Ferrell RE، Baty CJ، Kimak MA، وآخرون (2010). "GJC2 missense mutations cause human lymphedema". Am. J. Hum. Genet. ج. 86 ع. 6: 943–8. DOI:10.1016/j.ajhg.2010.04.010. PMC:3032064. PMID:20537300.
• Uhlenberg B، Schuelke M، Rüschendorf F، وآخرون (2004). "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease". Am. J. Hum. Genet. ج. 75 ع. 2: 251–60. DOI:10.1086/422763. PMC:1216059. PMID:15192806.
• Orthmann-Murphy JL، Salsano E، Abrams CK، وآخرون (2009). "Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations". Brain. ج. 132 ع. Pt 2: 426–38. DOI:10.1093/brain/awn328. PMC:2640216. PMID:19056803.
• Wang J، Wang H، Wang Y، وآخرون (2010). "Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease". Brain Dev. ج. 32 ع. 3: 236–43. DOI:10.1016/j.braindev.2009.03.013. PMID:19423250.
• Henneke M، Combes P، Diekmann S، وآخرون (2008). "GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease". Neurology. ج. 70 ع. 10: 748–54. DOI:10.1212/01.wnl.0000284828.84464.35. PMID:18094336.
• Orthmann-Murphy JL، Enriquez AD، Abrams CK، Scherer SS (2007). "Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease". Mol. Cell. Neurosci. ج. 34 ع. 4: 629–41. DOI:10.1016/j.mcn.2007.01.010. PMC:1937038. PMID:17344063.
• Ruf N، Uhlenberg B (2009). "Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease". Am. J. Med. Genet. B Neuropsychiatr. Genet. ج. 150B ع. 2: 226–32. DOI:10.1002/ajmg.b.30792. PMID:18521858.
• Wolf NI، Cundall M، Rutland P، وآخرون (2007). "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination". Neurogenetics. ج. 8 ع. 1: 39–44. DOI:10.1007/s10048-006-0062-0. PMID:16969684.
• Ishikawa T، Sato K، Shimazaki R، وآخرون (2010). "[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]". Rinsho Shinkeigaku. ج. 50 ع. 1: 7–11. DOI:10.5692/clinicalneurol.50.7. PMID:20120347.