1 | COL11A1, STL2
|
| Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
|
| Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP.
|
| J Med Genet 50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6.
2013
|
2 | COL11A1, COL2A1
|
| Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
|
| Richards AJ, McNinch A, Whittaker J, Treacy B, Oakhill K, Poulson A, Snead MP.
|
| Eur J Hum Genet 20(5):552-8. doi: 10.1038/ejhg.2011.223. Epub 2011 Dec 21.
2012
|
3 | COL11A1, MRSH
|
| A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
|
| Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M.
|
| J Med Genet 49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. No abstract available.
2012
|
4 | COL11A1, COL2A1, STL1, STL2
|
| Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
| Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP.
|
| Hum Mutat 31(6):E1461-71.PMID: 20513134 2010
|
5 | COL11A1, FCHG
|
| Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
|
| Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH.
|
| Am J Hum Genet 87(5):708-12. Epub 2010 Oct 28.PMID: 21035103 2010
|
6 | COL11A1, STL2, MRSH
|
| A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
|
| Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Mannikko M, Mortier GR.
|
| Am J Med Genet A 143(3):258-64. 2007
|
7 | COL11A1
|
| A Functional Polymorphism in COL11A1, Which Encodes the alpha 1 Chain of Type XI Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation.
|
| Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S.
|
| Am J Hum Genet 81(6):1271-7. Epub 2007 Oct 16. 2007
|
8 | COL11A1
|
| The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1).
|
| Matsuo N, Yu-Hua W, Sumiyoshi H, Sakata-Takatani K, Nagato H, Sakai K, Sakurai M, Yoshioka H.
|
| J Biol Chem 278(35):32763-70. Epub 2003 Jun 12. 2003
|
9 | COL11A1, COL11A2
|
| Structural organization of distinct domains within the non-collagenous N-terminal region of collagen type XI.
|
| Gregory KE, Oxford JT, Chen Y, Gambee JE, Gygi SP, Aebersold R, Neame PJ, Mechling DE, Bachinger HP, Morris NP.
|
| J Biol Chem 275(15):11498-506. 2000
|
10 | COL11A1, MRSH
|
| Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.
|
| Griffith AJ, Gebarski SS, Shepard NT, Kileny PR.
|
| Arch Otolaryngol Head Neck Surg 126(7):891-4. 2000
|
11 | STL1, STL2, COL2A1, COL11A1
|
| Clinical and Molecular genetics of Stickler syndrome.
|
| Snead MP, et al.
|
| J Med Genet 36(5):353-9. 1999
|
12 | COL11A1, MRSH, STL2
|
| Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes.
|
| Annunen S, et al.
|
| Am J Hum Genet 65(4):974-983 1999
|
13 | STL1, STL2, COL11A1, COL2A1
|
| Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.
|
| Martin S, et al.
|
| Eur J Hum Genet 7(7):807-14 1999
|
14 | COL11A1, MRSH
|
| Marshall syndrome associated with a splicing defect at the COL11A1 locus.
|
| Griffith AJ, et al.
|
| Am J Hum Genet 62 : 816-823. 1998
|
15 | COL11A1, MRSH
|
| Marshall syndrome and a defect at the COL11A1 locus.
|
| Shanske A, et al.
|
| Am J Hum Genet 63 : 1558-1559. 1998
|
16 | COL11A1, MRSH
|
| Reply to shanske et al.
|
| Warman ML, et al.
|
| Am J Hum Genet 63 : 1559-1561. 1998
|
17 | STL2, COL11A1
|
| A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
|
| Richards AJ, et al.
|
| Hum Mol Genet 5 : 1339-1343. 1996
|
18 | COL11A1
|
| Structural and functional analysis of the promoter of the human alpha 1 (XI) collagen gene.
|
| Yoshioka H, et al.
|
| J Biol Chem 270 : 418-424. 1995
|
19 | COL11A1
|
| A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis.
|
| Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F, et al.
|
| Cell 80(3):423-30 1995
|
20 | COL11A1, OI4A
|
| Substitution of cysteine for glycine at residue 415 of one allele of the alpha1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
|
| Nicholls AC, et al.
|
| J Med Genet 28 : 757-764. 1991
|
21 | COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2
|
| Cartilage contains mixed fibrils of collagen types II, IX, and XI.
|
| Mendler M, Eich-Bender SG, Vaughan L, Winterhalter KH, Bruckner P.
|
| J Cell Biol 108(1):191-7 1989
|
22 | COL11A1
|
| Mapping of a human fibrillar collagen gene, pro î1(XI) (COL11A1), to the p21 region of chromosome 1.
|
| Henry I, et al.
|
| Genomics 3 : 87-90. 1988
|
23 | COL11A1
|
| Regional assignment of a collagen gene (COLL6) to 1p21 by chromosomesorting, somatic cell hybrids and in situ hybridization.
|
| Henry I, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 649. 1985
|