Citations for
1COL11A1, 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
2COL11A1, 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
3COL11A1, 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
4COL11A1, 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
5COL11A1, 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
6COL11A1, 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
7COL11A1
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
8COL11A1
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
9COL11A1, 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
10COL11A1, 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
11STL1, STL2, COL2A1, COL11A1
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, et al.
J Med Genet 36(5):353-9. 1999
12COL11A1, 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
13STL1, 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
14COL11A1, MRSH
Marshall syndrome associated with a splicing defect at the COL11A1 locus.
Griffith AJ, et al.
Am J Hum Genet 62 : 816-823. 1998
15COL11A1, MRSH
Marshall syndrome and a defect at the COL11A1 locus.
Shanske A, et al.
Am J Hum Genet 63 : 1558-1559. 1998
16COL11A1, MRSH
Reply to shanske et al.
Warman ML, et al.
Am J Hum Genet 63 : 1559-1561. 1998
17STL2, 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
18COL11A1
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
19COL11A1
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
20COL11A1, 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
21COL2A1, 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
22COL11A1
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
23COL11A1
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