172 related articles for article (PubMed ID: 15459972)
1. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
Mabuchi A; Haga N; Maeda K; Nakashima E; Manabe N; Hiraoka H; Kitoh H; Kosaki R; Nishimura G; Ohashi H; Ikegawa S
Hum Mutat; 2004 Nov; 24(5):439-40. PubMed ID: 15459972
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
Chapman KL; Mortier GR; Chapman K; Loughlin J; Grant ME; Briggs MD
Nat Genet; 2001 Aug; 28(4):393-6. PubMed ID: 11479597
[TBL] [Abstract][Full Text] [Related]
3. A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho TT; Tran LH; Hoang LT; Doan PKT; Nguyen TT; Nguyen TH; Tran HT; Hoang H; Chu HH; Luong ALT
BMC Musculoskelet Disord; 2020 Apr; 21(1):216. PubMed ID: 32264862
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.
Itoh T; Shirahama S; Nakashima E; Maeda K; Haga N; Kitoh H; Kosaki R; Ohashi H; Nishimura G; Ikegawa S
Am J Med Genet A; 2006 Jun; 140(12):1280-4. PubMed ID: 16691584
[TBL] [Abstract][Full Text] [Related]
5. Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Kim OH; Park H; Seong MW; Cho TJ; Nishimura G; Superti-Furga A; Unger S; Ikegawa S; Choi IH; Song HR; Kim HW; Yoo WJ; Shim JS; Chung CY; Oh CW; Jeong C; Song KS; Seo SG; Cho SI; Yeo IK; Kim SY; Park S; Park SS
Am J Med Genet A; 2011 Nov; 155A(11):2669-80. PubMed ID: 21965141
[TBL] [Abstract][Full Text] [Related]
6. Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.
Fresquet M; Jackson GC; Loughlin J; Briggs MD
Hum Mutat; 2008 Feb; 29(2):330. PubMed ID: 18205203
[TBL] [Abstract][Full Text] [Related]
7. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny-Ratajczak M; Lohiniva J; Rogala P; Kozlowski K; Perälä M; Carter L; Spector TD; Kolodziej L; Seppänen U; Glazar R; Królewski J; Latos-Bielenska A; Ala-Kokko L
Am J Hum Genet; 2001 Nov; 69(5):969-80. PubMed ID: 11565064
[TBL] [Abstract][Full Text] [Related]
8. Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
Maeda K; Nakashima E; Horikoshi T; Mabuchi A; Ikegawa S
Am J Med Genet A; 2005 Jul; 136(3):285-6. PubMed ID: 15948199
[No Abstract] [Full Text] [Related]
9. COL9A3: A third locus for multiple epiphyseal dysplasia.
Paassilta P; Lohiniva J; Annunen S; Bonaventure J; Le Merrer M; Pai L; Ala-Kokko L
Am J Hum Genet; 1999 Apr; 64(4):1036-44. PubMed ID: 10090888
[TBL] [Abstract][Full Text] [Related]
10. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC; Mittaz-Crettol L; Taylor JA; Mortier GR; Spranger J; Zabel B; Le Merrer M; Cormier-Daire V; Hall CM; Offiah A; Wright MJ; Savarirayan R; Nishimura G; Ramsden SC; Elles R; Bonafe L; Superti-Furga A; Unger S; Zankl A; Briggs MD
Hum Mutat; 2012 Jan; 33(1):144-57. PubMed ID: 21922596
[TBL] [Abstract][Full Text] [Related]
11. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Mäkitie O; Mortier GR; Czarny-Ratajczak M; Wright MJ; Suri M; Rogala P; Freund M; Jackson GC; Jakkula E; Ala-Kokko L; Briggs MD; Cole WG
Am J Med Genet A; 2004 Mar; 125A(3):278-84. PubMed ID: 14994237
[TBL] [Abstract][Full Text] [Related]
12. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Cotterill SL; Jackson GC; Leighton MP; Wagener R; Mäkitie O; Cole WG; Briggs MD
Hum Mutat; 2005 Dec; 26(6):557-65. PubMed ID: 16287128
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
Jakkula E; Mäkitie O; Czarny-Ratajczak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
Eur J Hum Genet; 2005 Mar; 13(3):292-301. PubMed ID: 15523498
[TBL] [Abstract][Full Text] [Related]
14. Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC; Barker FS; Jakkula E; Czarny-Ratajczak M; Mäkitie O; Cole WG; Wright MJ; Smithson SF; Suri M; Rogala P; Mortier GR; Baldock C; Wallace A; Elles R; Ala-Kokko L; Briggs MD
J Med Genet; 2004 Jan; 41(1):52-9. PubMed ID: 14729835
[No Abstract] [Full Text] [Related]
15. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD; Chapman KL
Hum Mutat; 2002 May; 19(5):465-78. PubMed ID: 11968079
[TBL] [Abstract][Full Text] [Related]
16. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
Mabuchi A; Manabe N; Haga N; Kitoh H; Ikeda T; Kawaji H; Tamai K; Hamada J; Nakamura S; Brunetti-Pierri N; Kimizuka M; Takatori Y; Nakamura K; Nishimura G; Ohashi H; Ikegawa S
Hum Genet; 2003 Jan; 112(1):84-90. PubMed ID: 12483304
[TBL] [Abstract][Full Text] [Related]
17. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
Jackson GC; Marcus-Soekarman D; Stolte-Dijkstra I; Verrips A; Taylor JA; Briggs MD
Am J Med Genet A; 2010 Apr; 152A(4):863-9. PubMed ID: 20358595
[TBL] [Abstract][Full Text] [Related]
18. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Balasubramanian K; Li B; Krakow D; Nevarez L; Ho PJ; Ainsworth JA; Nickerson DA; Bamshad MJ; Immken L; Lachman RS; Cohn DH
Am J Med Genet A; 2017 Sep; 173(9):2415-2421. PubMed ID: 28742282
[TBL] [Abstract][Full Text] [Related]
19. Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
Seo SG; Song HR; Kim HW; Yoo WJ; Shim JS; Chung CY; Park MS; Oh CW; Jeong C; Song KS; Kim OH; Park SS; Choi IH; Cho TJ
BMC Musculoskelet Disord; 2014 Mar; 15():84. PubMed ID: 24629099
[TBL] [Abstract][Full Text] [Related]
20. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
Mortier GR; Chapman K; Leroy JL; Briggs MD
Eur J Hum Genet; 2001 Aug; 9(8):606-12. PubMed ID: 11528506
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]