| 1 | COL11A2, RXRB
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| Insulation of the ubiquitous Rxrb promoter from the cartilage-specific adjacent gene, Col11a2.
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| Murai J, Ikegami D, Okamoto M, Yoshikawa H, Tsumaki N.
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| J Biol Chem 283(41):27677-87. Epub 2008 Aug 5.PMID: 18682388 2008
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| 2 | ABCA11P, ABHD6, ABHD8, ACBD4, AKD1, AMER3, ANKRD13B, ANKRD39, ANKRD53, ANKRD55, ANTXRL, ANXA8L2, ARMCX4, ASTN1, BORCS6, BTNL8, C10orf140, C10orf53, C10orf68, C10orf72, C10orf76, C11orf65, C12orf41, C12orf42, C12orf59, C12orf63, C13orf23, C14orf132, C14orf166B, C15orf38, C15orf39, C15orf41, C15orf52, C16orf10, C16orf54, C17orf62, C17orf63, C17orf85, C18orf19, C19orf12, C19orf34, C19orf44, C19orf45, C19orf54, C19orf55, C19orf60, C1orf128, C1orf129, C1orf198, C1orf50, C1orf94, C20orf82, C22orf15, C22orf26, C22orf30, C2CD3, C2orf3, C2orf34, C2orf53, C2orf63, C4orf19, C5orf22, C5orf24, C6orf35, C8orf33, C8orf73, C9orf100, C9orf131, C9orf50, C9orf68, CCDC122, CCDC144C, CCDC146, CCDC40, CCDC71, CCDC77, CCDC96, CCM2L, CD97, CDH6, CEP120, CFAP43, CFAP47, COL11A2, COL9A1, CXorf57, DDTL, DDX60L, DDX60L, DFNB53, DHODH, DNAJB14, DQX1, ECT2L, EFCAB5, ERCC6L2, EXOC3L, FAAH2, FAM110A, FAM136A, FAM153B, FAM160A2, FAM200B, FAM47C, FAM63B, FAM86B1, FASTKD1, FDX1L, FOCAD, FOXRED2, GIN1, GSG1L, HERPUD2, IFITM4P, JMJD7, KCTD4, KIAA1310, KIAA1614, KLHL25, LACC1, LARP4, LRRC27, LRRC31, MACROD2, PCMTD2, RABGGTA, SHOC1, SLC3A2, SLC52A3, SMYD4, TBC1D20, TMEM100, TTI2, ZC3H6, ZNF250, ZNF252, ZNF385B, ZNF491, ZNF493, ZNF506, ZNF517, ZNF525, ZNF529, ZNF568, ZNF611, ZNF614, ZNF616, ZNF621, ZNF624, ZNF627, ZNF630, ZNF721, ZSCAN18, ZSCAN29
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| Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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| Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S.
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| Genome Res 16(1):55-65. Epub 2005 Dec 12. 2006
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| 3 | OSMED, COL11A2
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| Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
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| Temtamy SA, Mannikko M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.
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| Am J Med Genet A 140(11):1189-95. 2006
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| 4 | COL11A2
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| Sp1 family of transcription factors regulates the human alpha2 (XI) collagen gene (COL11A2) in Saos-2 osteoblastic cells.
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| Goto T, Matsui Y, Fernandes RJ, Hanson DA, Kubo T, Yukata K, Michigami T, Komori T, Fujita T, Yang L, Eyre DR, Yasui N.
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| J Bone Miner Res 21(5):661-73. 2006
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| 5 | COL11A2, OSMED
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| COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
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| Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS.
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| Am J Med Genet A 132(1):33-5. 2005
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| 6 | COL11A2, DFNB53, WZS, OSMED, DFNA13
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| A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
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| Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.
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| Hum Genet 118(2):175-8. Epub 2005 Nov 15. 2005
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| 7 | COL11A2, COL9A2, NR5A1, SOX9
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| Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
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| Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E.
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| Hum Mol Genet 12(14):1755-65. 2003
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| 8 | COL11A2, DFNA13
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| Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
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| De Leenheer EM, Kunst HH, McGuirt WT, Prasad SD, Brown MR, Huygen PL, Smith RJ, Cremers CW.
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| Arch Otolaryngol Head Neck Surg 127(1):13-7. 2001
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| 9 | COL11A2, OSMED
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| Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
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| Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kaariainen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.
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| Am J Hum Genet 66(2):368-77. 2000
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| 10 | COL11A1, COL11A2
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| Structural organization of distinct domains within the non-collagenous N-terminal region of collagen type XI.
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| Gregory KE, Oxford JT, Chen Y, Gambee JE, Gygi SP, Aebersold R, Neame PJ, Mechling DE, Bachinger HP, Morris NP.
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| J Biol Chem 275(15):11498-506. 2000
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| 11 | COL11A2, DFNA13
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| Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
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| McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ.
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| Nat Genet 23(4):413-9 1999
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| 12 | COL2A1, COL11A2
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| Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer.
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| Bridgewater LC, et al.
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| J Biol Chem 273 : 14998-15006. 1998
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| 13 | COL11A2, STL3, OSMED
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| Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
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| Pihlajamaa T, et al.
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| Am J Med Genet 80 : 115-120. 1998
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| 14 | COL11A2, WZS
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| Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
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| Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L.
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| Am J Med Genet 80(2):115-20. 1998
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| 15 | COL11A2, HKE@, PFDN6, SLC39A7, HSD17B8, KIFC1, RGL2, RING1, RPS18
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| Physical mapping 220 kb centromeric of the human MHC and DNA sequence analysis of the 43-kb segment including the RING1, HKE6, and HKE4 genes.
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| Kikuti YY, Tamiya G, Ando A, Chen L, Kimura M, Ferreira E, Tsuji K, Trowsdale J, Inoko H.
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| Genomics 42(3):422-35. 1997
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| 16 | COL11A2, OSMED
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| Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
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| van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG.
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| Am J Med Genet 70(3):315-23. 1997
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| 17 | COL11A2, HKE@
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| The human alpha2(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.
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| Lui VCH, et al.
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| Genomics 32 : 401-412. 1996
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| 18 | COL11A2
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| The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.
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| Vuoristo MM, et al.
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| J Biol Chem 270 : 22873-22881. 1995
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| 19 | COL11A2, STL3, OSMED
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| Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
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| Vikkula M, et al.
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| Cell 80 : 431-437. 1995
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| 20 | COL11A2, STL3
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| A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
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| Brunner HG, et al.
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| Hum Mol Genet 3 : 1561-1564. 1994
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| 21 | COL11A2
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| The gene for the alpha-2 chain of the human fibrillar collagen type XI (COL11A2) assigned to the short arm of chromosome 6.
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| Law ML, et al.
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| Ann Hum Genet 54 : 23-29. 1990
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| 22 | COL11A2
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| A StuI RFLP in the human COL11A2 gene.
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| Cheah KSE, et al.
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| Nucleic Acids Res 18 : 4964. 1990
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| 23 | COL11A2
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| A Bam H1 RFLP in the human alpha2 (X1) (COL 11A2) gene.
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| Priestley LM, et al.
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| Nucleic Acids Res 18 : 689. 1990
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| 24 | COL11A2
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| An EcoRI RFLP in the human alpha2 (XI) (COL 11A2) gene.
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| Cheah KSE, et al.
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| Nucleic Acids Res 18 : 387. 1990
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| 25 | COL11A2
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| The gene for the alpha-2 chain of the human fibrillar collagen, type XI (Col11A2) is on the short arm of chromosome 6.
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| Law ML, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1029-1030. 1989
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| 26 | COL11A2
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| The pro-alpha-2(XI) collagen gene, COL11A2, maps to the centromeric border of the major histocompatibility complex.
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| Hanson IM, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1010-1011. 1989
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| 27 | COL11A2
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| The human alpha-2(XI) collagen gene COL11A2 maps to the centromeric border of the major histocompatibility complex on chromosome 6.
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| Hanson IM, et al.
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| Genomics 5 : 925-931. 1989
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| 28 | COL11A2
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| The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.
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| Kimura T, Cheah KS, Chan SD, Lui VC, Mattei MG, van der Rest M, Ono K, Solomon E, Ninomiya Y, Olsen BR.
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| J Biol Chem 264 : 13910-13916. 1989
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| 29 | COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2
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| Cartilage contains mixed fibrils of collagen types II, IX, and XI.
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| Mendler M, Eich-Bender SG, Vaughan L, Winterhalter KH, Bruckner P.
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| J Cell Biol 108(1):191-7 1989
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