Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
作者信息
Jackson G C, Barker F S, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole W G, Wright M J, Smithson S F, Suri M, Rogala P, Mortier G R, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs M D
出版信息
J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429.
Abstract
摘要
相似文献
1
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.基质金属蛋白酶-3单A结构域β链中的错义突变导致多发性骨骺发育不良。
J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429.
2
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.假性软骨发育不全中COMP基因外显子13的新型和复发性突变
Am J Med Genet A. 2005 Jan 1;132A(1):108-9. doi: 10.1002/ajmg.a.30348.
3
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.假性软骨发育不全和多发性骨骺发育不良中软骨寡聚基质蛋白基因五个新突变的鉴定。
Hum Mutat. 1998;Suppl 1:S10-7. doi: 10.1002/humu.1380110105.
4
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.假性软骨发育不全和多发性骨骺发育不良中软骨寡聚基质蛋白（COMP）基因的突变。
Ann N Y Acad Sci. 1996 Jun 8;785:188-94. doi: 10.1111/j.1749-6632.1996.tb56258.x.
5
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.新的和复发性突变聚集在多发性骨骺发育不良中MATN3的血管性血友病因子A结构域。
Hum Mutat. 2004 Nov;24(5):439-40. doi: 10.1002/humu.9286.
6
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.COMP基因中反复出现的R718W突变导致多发性骨骺发育不良伴轻度肌病：与IX型胶原蛋白突变在临床和发病机制上存在重叠。
J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942.
7
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.编码matrilin-3的血管性血友病因子A结构域区域的突变与多发性骨骺发育不良相关。
Nat Genet. 2001 Aug;28(4):393-6. doi: 10.1038/ng573.
8
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.COL9A1基因的突变导致多发性骨骺发育不良：基因座异质性的进一步证据。
Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14.
9
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.假性软骨发育不全症和多发性骨骺发育不良：对已知疾病基因的 7 年综合分析确定了新的和反复出现的突变，并对其相对贡献进行了准确评估。
Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.
10
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.假性软骨发育不全和多发性骨骺发育不良患者软骨寡聚基质蛋白（COMP）基因突变的鉴定。
J Hum Genet. 2003;48(5):222-225. doi: 10.1007/s10038-003-0013-7. Epub 2003 Apr 24.
引用本文的文献
1
Recurrent Mutation (p.Arg718Pro) in the Gene with Clinical Heterogeneity of Pseudoachondroplasia.假性软骨发育不全基因中的复发性突变（p.Arg718Pro）及其临床异质性
Mol Syndromol. 2023 Aug;14(4):341-346. doi: 10.1159/000528980. Epub 2023 Mar 29.
2
Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.姜黄素通过增加突变型核心蛋白聚糖 3 的蛋白水解来减少病理性内质网应激。
Int J Mol Sci. 2023 Jan 12;24(2):1496. doi: 10.3390/ijms24021496.
3
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.从人诱导多能干细胞分化出肥大软骨细胞用于软骨发育异常的体外建模
Stem Cell Reports. 2021 Mar 9;16(3):610-625. doi: 10.1016/j.stemcr.2021.01.014. Epub 2021 Feb 25.
4
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.一个越南家族多发性骨骺发育不良的新型 matrilin-3 变异 p.A191D：病例报告。
BMC Musculoskelet Disord. 2020 Apr 7;21(1):216. doi: 10.1186/s12891-020-03222-4.
5
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).由于编码Matrilin-3（T120M）的基因发生纯合错义突变导致的脊椎骨骺干骺端发育不良。
Bone Rep. 2020 Jan 11;12:100245. doi: 10.1016/j.bonr.2020.100245. eCollection 2020 Jun.
6
Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis.缺乏细胞外基质蛋白 Matrilin 家族的小鼠出现轻度骨骼异常，并易患与年龄相关的骨关节炎。
Int J Mol Sci. 2020 Jan 19;21(2):666. doi: 10.3390/ijms21020666.
7
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.导致脊椎骨骺发育异常的MATN3基因突变
Indian J Pediatr. 2020 Mar;87(3):227-228. doi: 10.1007/s12098-019-03100-5. Epub 2019 Nov 14.
8
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.XBP1 信号对于缓解内质网应激相关骨骼疾病中的突变蛋白聚集是必不可少的。
PLoS Genet. 2019 Jul 1;15(7):e1008215. doi: 10.1371/journal.pgen.1008215. eCollection 2019 Jul.
9
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).小鼠模型在提供人类遗传性骨骼疾病病理分子机制相关信息方面的效用：内质网应激的新作用（综述）
Int J Mol Med. 2015 Jun;35(6):1483-92. doi: 10.3892/ijmm.2015.2158. Epub 2015 Mar 30.
10
Matrilin-3 inhibits chondrocyte hypertrophy as a bone morphogenetic protein-2 antagonist.基质金属蛋白酶-3作为骨形态发生蛋白-2拮抗剂可抑制软骨细胞肥大。
J Biol Chem. 2014 Dec 12;289(50):34768-79. doi: 10.1074/jbc.M114.583104. Epub 2014 Oct 20.
Zotero 插件