CRYBB1

An Error has occured retrieving Wikidata item for infobox CRYBB1‏ (Crystallin beta B1) هوَ بروتين يُشَفر بواسطة جين CRYBB1 في الإنسان.^[1]^[2]^[3]

الوظيفة

الأهمية السريرية

المراجع

^ Hulsebos TJ، Gilbert DJ، Delattre O، Smink LJ، Dunham I، Westerveld A، Thomas G، Jenkins NA، Copeland NG (مارس 1996). "Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5". Genomics. ج. 29 ع. 3: 712–8. DOI:10.1006/geno.1995.9947. PMID:8575764.
^ "Entrez Gene: CRYBB1 crystallin, beta B1". مؤرشف من الأصل في 2010-03-07.
^ Mackay DS، Boskovska OB، Knopf HL، Lampi KJ، Shiels A (أكتوبر 2002). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am J Hum Genet. ج. 71 ع. 5: 1216–21. DOI:10.1086/344212. PMC:385100. PMID:12360425.

قراءة متعمقة

David LL، Lampi KJ، Lund AL، Smith JB (1996). "The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension". J. Biol. Chem. ج. 271 ع. 8: 4273–9. DOI:10.1074/jbc.271.8.4273. PMID:8626774.
Lampi KJ؛ Ma Z؛ Hanson SR؛ وآخرون (1998). "Age-related changes in human lens crystallins identified by two-dimensional electrophoresis and mass spectrometry". Exp. Eye Res. ج. 67 ع. 1: 31–43. DOI:10.1006/exer.1998.0481. PMID:9702176.
Dunham I؛ Shimizu N؛ Roe BA؛ وآخرون (1999). "The DNA sequence of human chromosome 22". Nature. ج. 402 ع. 6761: 489–95. DOI:10.1038/990031. PMID:10591208.
MacCoss MJ؛ McDonald WH؛ Saraf A؛ وآخرون (2002). "Shotgun identification of protein modifications from protein complexes and lens tissue". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 12: 7900–5. DOI:10.1073/pnas.122231399. PMC:122992. PMID:12060738.
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.
Stempel D؛ Sandusky H؛ Lampi K؛ وآخرون (2003). "BetaB1-crystallin: identification of a candidate ciliary body uveitis antigen". Invest. Ophthalmol. Vis. Sci. ج. 44 ع. 1: 203–9. DOI:10.1167/iovs.01-1261. PMID:12506076.
Babenko AP، Bryan J (2004). "Sur domains that associate with and gate KATP pores define a novel gatekeeper". J. Biol. Chem. ج. 278 ع. 43: 41577–80. DOI:10.1074/jbc.C300363200. PMID:12941953.
Van Montfort RL، Bateman OA، Lubsen NH، Slingsby C (2004). "Crystal structure of truncated human betaB1-crystallin". Protein Sci. ج. 12 ع. 11: 2606–12. DOI:10.1110/ps.03265903. PMC:2366963. PMID:14573871.
Harms MJ؛ Wilmarth PA؛ Kapfer DM؛ وآخرون (2004). "Laser light-scattering evidence for an altered association of beta B1-crystallin deamidated in the connecting peptide". Protein Sci. ج. 13 ع. 3: 678–86. DOI:10.1110/ps.03427504. PMC:2286738. PMID:14978307.
Collins JE؛ Wright CL؛ Edwards CA؛ وآخرون (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. ج. 5 ع. 10: R84. DOI:10.1186/gb-2004-5-10-r84. PMC:545604. PMID:15461802.
Gerhard DS؛ Wagner L؛ Feingold EA؛ وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Annunziata O؛ Pande A؛ Pande J؛ وآخرون (2005). "Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin". Biochemistry. ج. 44 ع. 4: 1316–28. DOI:10.1021/bi048419f. PMID:15667225.
Willoughby CE؛ Shafiq A؛ Ferrini W؛ وآخرون (2006). "CRYBB1 mutation associated with congenital cataract and microcornea". Mol. Vis. ج. 11: 587–93. PMID:16110300.
Hou HH، Kuo MY، Luo YW، Chang BE (2006). "Recapitulation of human betaB1-crystallin promoter activity in transgenic zebrafish". Dev. Dyn. ج. 235 ع. 2: 435–43. DOI:10.1002/dvdy.20652. PMID:16331646.
Smith MA، Bateman OA، Jaenicke R، Slingsby C (2007). "Mutation of interfaces in domain-swapped human betaB2-crystallin". Protein Sci. ج. 16 ع. 4: 615–25. DOI:10.1110/ps.062659107. PMC:2203347. PMID:17327390.
Koteiche HA، Kumar MS، McHaourab HS (2007). "Analysis of betaB1-crystallin unfolding equilibrium by spin and fluorescence labeling: evidence of a dimeric intermediate". FEBS Lett. ج. 581 ع. 10: 1933–8. DOI:10.1016/j.febslet.2007.04.004. PMC:2394508. PMID:17448466.
Cohen D؛ Bar-Yosef U؛ Levy J؛ وآخرون (2007). "Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract". Invest. Ophthalmol. Vis. Sci. ج. 48 ع. 5: 2208–13. DOI:10.1167/iovs.06-1019. PMID:17460281.
Wang J؛ Ma X؛ Gu F؛ وآخرون (2007). "A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract". Chin. Med. J. ج. 120 ع. 9: 820–4. PMID:17531125.

هذه بذرة مقالة عن بروتين بحاجة للتوسيع. فضلًا شارك في تحريرها.

[1] Hulsebos TJ، Gilbert DJ، Delattre O، Smink LJ، Dunham I، Westerveld A، Thomas G، Jenkins NA، Copeland NG (مارس 1996). "Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5". Genomics. ج. 29 ع. 3: 712–8. DOI:10.1006/geno.1995.9947. PMID:8575764.

[2] "Entrez Gene: CRYBB1 crystallin, beta B1". مؤرشف من الأصل في 2010-03-07.

[3] Mackay DS، Boskovska OB، Knopf HL، Lampi KJ، Shiels A (أكتوبر 2002). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am J Hum Genet. ج. 71 ع. 5: 1216–21. DOI:10.1086/344212. PMC:385100. PMID:12360425.

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