COL11A2
Внешний вид
COL11A2 (ингл. ) — аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.[20][21]
Искәрмәләр
[үзгәртү | вики-текстны үзгәртү]- ↑ 1,0 1,1 UniProt
- ↑ 2,0 2,1 2,2 2,3 M Melkoniemi, Brunner H. G., S Manouvrier et al. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene // Am. J. Hum. Genet. — Cell Press, Elsevier BV, 2000. — ISSN 0002-9297; 1537-6605 — doi:10.1086/302750 — PMID:10677296
- ↑ 3,0 3,1 GOA
- ↑ Osawa M. Structural basis of the collagen-binding mode of discoidin domain receptor 2 // EMBO J. — NPG, 2007. — ISSN 0261-4189; 1460-2075 — doi:10.1038/SJ.EMBOJ.7601833 — PMID:17703188
- ↑ 5,0 5,1 Vincent C.H. Lui The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene // Genomics / A. Engel — Academic Press, Elsevier BV, 1996. — ISSN 0888-7543; 1089-8646 — doi:10.1006/GENO.1996.0135 — PMID:8838804
- ↑ 6,0 6,1 M Vikkula Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus // Cell — Cell Press, Elsevier BV, 1995. — ISSN 0092-8674; 1097-4172 — doi:10.1016/0092-8674(95)90493-X — PMID:7859284
- ↑ 7,0 7,1 7,2 7,3 7,4 7,5 GOA
- ↑ 8,0 8,1 8,2 8,3 8,4 8,5 8,6 Livstone M. S., Thomas P. D., Lewis S. E. et al. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium // Brief. Bioinform. — OUP, 2011. — ISSN 1467-5463; 1477-4054 — doi:10.1093/BIB/BBR042 — PMID:21873635
- ↑ Reagan M. R., Naba A., Clauser K. R. et al. Proteomic characterization of human multiple myeloma bone marrow extracellular matrix // Leukemia — NPG, 2017. — ISSN 0887-6924; 1476-5551 — doi:10.1038/LEU.2017.102 — PMID:28344315
- ↑ 10,0 10,1 Reagan M. R., Naba A., Clauser K. R. et al. Proteomic characterization of human multiple myeloma bone marrow extracellular matrix // Leukemia — NPG, 2017. — ISSN 0887-6924; 1476-5551 — doi:10.1038/LEU.2017.102 — PMID:28344315
- ↑ 11,0 11,1 11,2 Naba A., Oliver M T Pearce, Hynes R. O. Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics // J. Proteome Res. / J. Yates — ACS, 2017. — ISSN 1535-3893; 1535-3907 — doi:10.1021/ACS.JPROTEOME.7B00191 — PMID:28675934
- ↑ 12,0 12,1 12,2 12,3 M Vikkula Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus // Cell — Cell Press, Elsevier BV, 1995. — ISSN 0092-8674; 1097-4172 — doi:10.1016/0092-8674(95)90493-X — PMID:7859284
- ↑ 13,0 13,1 13,2 Vincent C.H. Lui The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene // Genomics / A. Engel — Academic Press, Elsevier BV, 1996. — ISSN 0888-7543; 1089-8646 — doi:10.1006/GENO.1996.0135 — PMID:8838804
- ↑ Kere J., Pihlajamaa T., Kääriäinen H. et al. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia // Eur. J. Hum. Genet. — NPG, Springer Science+Business Media, 2003. — ISSN 1018-4813; 1476-5438 — doi:10.1038/SJ.EJHG.5200950 — PMID:12673280
- ↑ 15,0 15,1 15,2 M A van Steensel, P Buma, M C de Waal Malefijt et al. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene // American Journal of Medical Genetics Part A — Wiley-Blackwell, 1997. — ISSN 0148-7299; 1096-8628 — <315::AID-AJMG19>3.0.CO;2-O doi:10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O — PMID:9188673
- ↑ M Melkoniemi, Brunner H. G., S Manouvrier et al. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene // Am. J. Hum. Genet. — Cell Press, Elsevier BV, 2000. — ISSN 0002-9297; 1537-6605 — doi:10.1086/302750 — PMID:10677296
- ↑ Kahrizi K., Camp G. V., Smith R. J. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus // J. Med. Genet. — BMJ, 2005. — ISSN 0022-2593; 1468-6244 — doi:10.1136/JMG.2005.032615 — PMID:16033917
- ↑ Kahrizi K., Camp G. V., Smith R. J. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus // J. Med. Genet. — BMJ, 2005. — ISSN 0022-2593; 1468-6244 — doi:10.1136/JMG.2005.032615 — PMID:16033917
- ↑ 19,0 19,1 19,2 M A van Steensel, P Buma, M C de Waal Malefijt et al. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene // American Journal of Medical Genetics Part A — Wiley-Blackwell, 1997. — ISSN 0148-7299; 1096-8628 — <315::AID-AJMG19>3.0.CO;2-O doi:10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O — PMID:9188673
- ↑ HUGO Gene Nomenclature Commitee, HGNC:29223 (ингл.). әлеге чыганактан 2015-10-25 архивланды. 18 сентябрь, 2017 тикшерелгән.
- ↑ UniProt, Q9ULJ7 (ингл.). 18 сентябрь, 2017 тикшерелгән.
Чыганаклар
[үзгәртү | вики-текстны үзгәртү]- Степанов В.М. (2005). Молекулярная биология. Структура и функция белков. Москва: Наука. ISBN 5-211-04971-3.(рус.)
- Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter (2002). Molecular Biology of the Cell (вид. 4th). Garland. ISBN 0815332181.(ингл.)
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