SGCE

An Error has occured retrieving Wikidata item for infobox SGCE‏ (Sarcoglycan epsilon) هوَ بروتين يُشَفر بواسطة جين SGCE في الإنسان.^[1]^[2]^[3]

الوظيفة

الأهمية السريرية

المراجع

^ Ettinger AJ، Feng G، Sanes JR (يناير 1998). "epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D". J Biol Chem. ج. 272 ع. 51: 32534–8. DOI:10.1074/jbc.272.51.32534. PMID:9405466.
^ "Entrez Gene: SGCE sarcoglycan, epsilon". مؤرشف من الأصل في 2010-12-05.
^ McNally EM، Ly CT، Kunkel LM (مارس 1998). "Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene". FEBS Lett. ج. 422 ع. 1: 27–32. DOI:10.1016/S0014-5793(97)01593-7. PMID:9475163.

قراءة متعمقة

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Barresi R، Moore SA، Stolle CA، وآخرون (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. ج. 275 ع. 49: 38554–60. DOI:10.1074/jbc.M007799200. PMID:10993904.
Zimprich A، Grabowski M، Asmus F، وآخرون (2001). "Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome". Nat. Genet. ج. 29 ع. 1: 66–9. DOI:10.1038/ng709. PMID:11528394.
Fanin M، Angelini C (2002). "Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes". Neuropathol. Appl. Neurobiol. ج. 28 ع. 3: 190–9. DOI:10.1046/j.1365-2990.2002.00389.x. PMID:12060343.
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Klein C، Liu L، Doheny D، وآخرون (2002). "Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations". Ann. Neurol. ج. 52 ع. 5: 675–9. DOI:10.1002/ana.10358. PMID:12402271.
Müller B، Hedrich K، Kock N، وآخرون (2003). "Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia". Am. J. Hum. Genet. ج. 71 ع. 6: 1303–11. DOI:10.1086/344531. PMC:378568. PMID:12444570.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Smallwood A، Papageorghiou A، Nicolaides K، وآخرون (2004). "Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta". Biol. Reprod. ج. 69 ع. 1: 286–93. DOI:10.1095/biolreprod.102.013078. PMID:12620933.
Grabowski M، Zimprich A، Lorenz-Depiereux B، وآخرون (2003). "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted". Eur. J. Hum. Genet. ج. 11 ع. 2: 138–44. DOI:10.1038/sj.ejhg.5200938. PMID:12634861.
Maréchal L، Raux G، Dumanchin C، وآخرون (2004). "Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation". Am. J. Med. Genet. B Neuropsychiatr. Genet. ج. 119 ع. 1: 114–7. DOI:10.1002/ajmg.b.10062. PMID:12707948.
Foncke EM، Klein C، Koelman JH، وآخرون (2004). "Hereditary myoclonus-dystonia associated with epilepsy". Neurology. ج. 60 ع. 12: 1988–90. DOI:10.1212/01.wnl.0000066020.99191.76. PMID:12821748.
Hillier LW، Fulton RS، Fulton LA، وآخرون (2003). "The DNA sequence of human chromosome 7". Nature. ج. 424 ع. 6945: 157–64. DOI:10.1038/nature01782. PMID:12853948.
Clark HF، Gurney AL، Abaya E، وآخرون (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. ج. 13 ع. 10: 2265–70. DOI:10.1101/gr.1293003. PMC:403697. PMID:12975309.
Kock N، Kasten M، Schüle B، وآخرون (2004). "Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation". Mov. Disord. ج. 19 ع. 2: 231–4. DOI:10.1002/mds.10635. PMID:14978685.
Nishiyama A، Endo T، Takeda S، Imamura M (2004). "Identification and characterization of epsilon-sarcoglycans in the central nervous system". Brain Res. Mol. Brain Res. ج. 125 ع. 1–2: 1–12. DOI:10.1016/j.molbrainres.2004.01.012. PMID:15193417.
Asmus F، Schoenian S، Lichtner P، وآخرون (2005). "Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome". Neurogenetics. ج. 6 ع. 1: 55–6. DOI:10.1007/s10048-004-0206-z. PMID:15627203.
Valente EM، Edwards MJ، Mir P، وآخرون (2005). "The epsilon-sarcoglycan gene in myoclonic syndromes". Neurology. ج. 64 ع. 4: 737–9. DOI:10.1212/01.WNL.0000151979.68010.9B. PMID:15728306.

هذه بذرة مقالة عن جين على كروموسوم 7 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[1] Ettinger AJ، Feng G، Sanes JR (يناير 1998). "epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D". J Biol Chem. ج. 272 ع. 51: 32534–8. DOI:10.1074/jbc.272.51.32534. PMID:9405466.

[2] "Entrez Gene: SGCE sarcoglycan, epsilon". مؤرشف من الأصل في 2010-12-05.

[3] McNally EM، Ly CT، Kunkel LM (مارس 1998). "Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene". FEBS Lett. ج. 422 ع. 1: 27–32. DOI:10.1016/S0014-5793(97)01593-7. PMID:9475163.

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