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1993 3
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Page 1
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301682 Free Books & Documents. Review.
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Abrams CK. Abrams CK. Biomolecules. 2023 Apr 21;13(4):712. doi: 10.3390/biom13040712. Biomolecules. 2023. PMID: 37189458 Free PMC article. Review.
Astroglia express connexin 30 (Cx30)-GJB6 and Cx43-GJA1, while oligodendroglia express Cx29/Cx31.3-GJC3, Cx32-GJB1, and Cx47-GJC2. Connexins organize into hexameric hemichannels (homomeric if all subunits are identical or heteromeric if one or more differs). ...Mutations i …
Astroglia express connexin 30 (Cx30)-GJB6 and Cx43-GJA1, while oligodendroglia express Cx29/Cx31.3-GJC3, Cx32-GJB1, and Cx47-GJC2. Co …
Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y. Ji T, et al. Minerva Pediatr (Torino). 2023 Feb;75(1):32-38. doi: 10.23736/S2724-5276.16.04451-0. Epub 2016 Apr 8. Minerva Pediatr (Torino). 2023. PMID: 27057822
CONCLUSIONS: Six patients from five pedigrees were diagnosed with PMLD based on their clinical data. Six GJC2 novel mutations were found in this study, expanding the spectrum of GJC2 mutations. ...Polymerase chain reaction and sequence analysis were used to amplify …
CONCLUSIONS: Six patients from five pedigrees were diagnosed with PMLD based on their clinical data. Six GJC2 novel mutations were fo …
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A. Gotoh L, et al. Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16. Mol Genet Metab. 2014. PMID: 24374284 Free PMC article.
OBJECTIVE: Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2, encoding a gap junction protein essential for production of a mature myelin sheath. ...INTERPRETATION: These findings support the role of …
OBJECTIVE: Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2 …
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. Ferrell RE, et al. Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27. Am J Hum Genet. 2010. PMID: 20537300 Free PMC article.
Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). T …
Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families w …
A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.
Komachali SR, Sheikholeslami M, Salehi M. Komachali SR, et al. Genomics Inform. 2022 Jun;20(2):e24. doi: 10.5808/gi.22008. Epub 2022 Jun 30. Genomics Inform. 2022. PMID: 35794704 Free PMC article.
Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in the gap junction protein gamma 2 (GJC2/GJA12). HLD2 is characterized by nystagmus, developmental delay, motor impairments, ataxia, s …
Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in …
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A, Tavasoli AR, Khojasteh M, Rohani M, Alavi A. Ghasemi A, et al. Mol Syndromol. 2023 Oct;14(5):405-415. doi: 10.1159/000529678. Epub 2023 Mar 30. Mol Syndromol. 2023. PMID: 37915394 Free PMC article.
A careful clinical and paraclinical evaluation of all affected individuals of the family was done and compared with previous reported GJC2-related families. RESULTS: A novel homozygous variant, c.G14T:p.Ser5Ile, in the GJC2 gene was identified. ...DISCUSSION: Up to …
A careful clinical and paraclinical evaluation of all affected individuals of the family was done and compared with previous reported GJC …
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. Owczarek-Lipska M, et al. Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270756
PMD is caused by mutations in the gene encoding for the proteolipid protein 1 (PLP1), whereas PMLD1 is associated with mutations in the gene encoding for the gap junction protein gamma 2 (GJC2). Here we present novel compound-heterozygous mutations in the GJC2 gene …
PMD is caused by mutations in the gene encoding for the proteolipid protein 1 (PLP1), whereas PMLD1 is associated with mutations in the gene …
Pelizaeus-Merzbacher-Like Disease 1.
Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G. Nahhas N, et al. 2017 Dec 21 [updated 2019 Jan 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Dec 21 [updated 2019 Jan 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29276893 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of PMLD1 is established in a proband with suggestive clinical and neuroimaging findings and identification of biallelic pathogenic variants in GJC2 on molecular genetic testing. MANAGEMENT: Treatment of manifestations: To date no definite t …
DIAGNOSIS/TESTING: The diagnosis of PMLD1 is established in a proband with suggestive clinical and neuroimaging findings and identification …
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
Kuipers DJS, Tufekcioglu Z, Bilgiç B, Olgiati S, Dremmen MHG, van IJcken WFJ, Breedveld GJ, Mancini GMS, Hanagasi HA, Emre M, Bonifati V. Kuipers DJS, et al. Parkinsonism Relat Disord. 2019 Sep;66:228-231. doi: 10.1016/j.parkreldis.2019.07.033. Epub 2019 Jul 31. Parkinsonism Relat Disord. 2019. PMID: 31431325
OBJECTIVE: Recessive mutations in the Gap Junction Protein Gamma 2 (GJC2) gene cause Pelizaeus-Merzbacher-like disease type 1, a severe infantile-onset hypomyelinating leukodystrophy. Milder, late-onset phenotypes including complicated spastic paraplegia in one family (SPG …
OBJECTIVE: Recessive mutations in the Gap Junction Protein Gamma 2 (GJC2) gene cause Pelizaeus-Merzbacher-like disease type 1, a seve …
71 results