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The biochemical defect of pseudoachondroplasia.

作者信息

Stanescu V, Maroteaux P, Stanescu R

出版信息

Eur J Pediatr. 1982 May;138(3):221-5. doi: 10.1007/BF00441206.

DOI:10.1007/BF00441206
PMID:7117284
Abstract
摘要

相似文献

1
The biochemical defect of pseudoachondroplasia.假性软骨发育不全的生化缺陷。
Eur J Pediatr. 1982 May;138(3):221-5. doi: 10.1007/BF00441206.
2
Achondrogenesis type I: light and electron-microscopic studies.Ⅰ型软骨发育不全:光镜和电镜研究
Eur J Pediatr. 1980 Jun;134(1):69-74. doi: 10.1007/BF00442406.
3
Ultrastructure of articular cartilage of achondroplastic mice.软骨发育不全小鼠关节软骨的超微结构
Acta Anat (Basel). 1976;96(2):162-75. doi: 10.1159/000144670.
4
The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia.假性软骨发育不全的轻型。生长板软骨的形态学和生物化学改变与典型假性软骨发育不全的改变相同。
Eur J Pediatr. 1980 May;133(3):227-31. doi: 10.1007/BF00496081.
5
Pseudoachondroplasia: biochemical and histochemical studies of cartilage.假性软骨发育不全:软骨的生化与组织化学研究
J Bone Joint Surg Am. 1984 Dec;66(9):1408-14.
6
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia.假性软骨发育不全中一种独特的糙面内质网包涵体。
Lab Invest. 1972 Jan;26(1):40-4.
7
Altered Golgi apparatus in hydrostatically loaded articular cartilage chondrocytes.静水压力加载下关节软骨细胞中高尔基体的改变
Ann Rheum Dis. 1993 Mar;52(3):192-8. doi: 10.1136/ard.52.3.192.
8
Ultrastructural changes in articular cartilage after experimental section of the anterior cruciate ligament of the dog knee.犬膝关节前交叉韧带实验切断后关节软骨的超微结构变化
J Anat. 1983 Mar;136(Pt 2):425-39.
9
Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease.对异常人类生长软骨的蛋白聚糖和胶原蛋白进行的凝胶电泳研究:假性软骨发育不全和克尼斯特病中的蛋白聚糖异常。
Pediatr Res. 1975 Oct;9(10):779-82. doi: 10.1203/00006450-197510000-00006.
10
Sites of sulfatation in the chondrocytes of the articular cartilage of the rabbit. A study by quantitative radioautography of high resolution.
Virchows Arch B Cell Pathol. 1977 Jan 20;23(1):53-64. doi: 10.1007/BF02889119.

引用本文的文献

1
Orthopaedic manifestations of pseudoachondroplasia.假性软骨发育不全的骨科表现
J Child Orthop. 2019 Aug 1;13(4):409-416. doi: 10.1302/1863-2548.13.190066.
2
Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein.突变型人软骨寡聚基质蛋白对软骨特异性蛋白聚糖合成的改变。
Clin Orthop Surg. 2009 Dec;1(4):181-7. doi: 10.4055/cios.2009.1.4.181. Epub 2009 Nov 25.
3
The unfolded protein response and its relevance to connective tissue diseases.未折叠蛋白反应及其与结缔组织病的相关性。

本文引用的文献

1
Characterization of chick bone collagen and compositional changes associated with maturation.鸡骨胶原蛋白的特性及与成熟相关的成分变化
J Biol Chem. 1967 Dec 10;242(23):5481-9.
2
Identification of core protein, an intermediate in proteoglycan biosynthesis in cultured chondrocytes from the Swarm rat chondrosarcoma.核心蛋白的鉴定,其为来自斯旺大鼠软骨肉瘤的培养软骨细胞中蛋白聚糖生物合成的一种中间体。
J Biol Chem. 1981 Aug 10;256(15):7890-7.
3
Biosynthesis, secretion, and aggregation of proteoglycans by rat chondrosarcoma chondrocytes.大鼠软骨肉瘤软骨细胞蛋白聚糖的生物合成、分泌及聚集
Cell Tissue Res. 2010 Jan;339(1):197-211. doi: 10.1007/s00441-009-0877-8. Epub 2009 Oct 23.
4
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.假性软骨发育不全是由细胞内和细胞外致病途径共同引起的。
J Clin Invest. 2002 Aug;110(4):505-13. doi: 10.1172/JCI14386.
5
Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.假性软骨发育不全性发育异常:来自爱荷华州从人类到小鼠的综述
Iowa Orthop J. 1999;19:53-65.
6
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.假性软骨发育不全-多发性骨骺发育不良疾病谱中软骨寡聚基质蛋白基因的多种突变。
Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713.
7
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.多发性骨骺发育不良的基因连锁定位至19号染色体的着丝粒周围区域。
Am J Hum Genet. 1994 Jan;54(1):3-10.
8
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.多发性骨骺发育不良(EDM2)基因座的遗传定位至1号染色体上包含IX型胶原基因的区域。
Am J Hum Genet. 1994 Oct;55(4):678-84.
9
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.一个具有假性软骨发育不全和多发性骨骺发育异常特征的大家庭:排除七个编码软骨细胞外基质蛋白的候选基因位点。
Hum Genet. 1994 Mar;93(3):236-42. doi: 10.1007/BF00212015.
10
Severe pseudoachondroplasia with parental consanguinity.伴有父母近亲结婚的严重假性软骨发育不全
J Med Genet. 1985 Apr;22(2):150-3. doi: 10.1136/jmg.22.2.150.
Ala J Med Sci. 1981 Jan;18(1):29-35.
4
Immunochemical analysis of cartilage proteoglycans. Radioimmunoassay of the molecules and the substructures.软骨蛋白聚糖的免疫化学分析。分子及亚结构的放射免疫测定。
Biochem J. 1980 Jun 1;187(3):687-94. doi: 10.1042/bj1870687.
5
Proteoglycan populations of baboon (Papio papio) cartilages from different anatomical sites: gel electrophoretic analysis of dissociated proteoglycans and of fractions obtained by density gradient centrifugation.来自不同解剖部位的狒狒(巴氏狒狒)软骨的蛋白聚糖群体:解离的蛋白聚糖及通过密度梯度离心获得的组分的凝胶电泳分析
Biochim Biophys Acta. 1980 May 7;629(2):371-81. doi: 10.1016/0304-4165(80)90109-9.
6
The tibial growing cartilage biopsy in the study of growth disturbances.用于生长障碍研究的胫骨生长软骨活检。
Acta Endocrinol (Copenh). 1970 Aug;64(4):577-601. doi: 10.1530/acta.0.0640577.
7
A low-viscosity epoxy resin embedding medium for electron microscopy.一种用于电子显微镜的低粘度环氧树脂包埋介质。
J Ultrastruct Res. 1969 Jan;26(1):31-43. doi: 10.1016/s0022-5320(69)90033-1.
8
Structural studies on cartilage collagen employing limited cleavage and solubilization with pepsin.利用胃蛋白酶进行有限裂解和溶解对软骨胶原蛋白进行的结构研究。
Biochemistry. 1972 Dec 19;11(26):4903-9. doi: 10.1021/bi00776a005.
9
Microchemical analysis of human tibial growth cartilage in various forms of dwarfism.不同类型侏儒症患者胫骨生长软骨的微量化学分析。
Acta Endocrinol (Copenh). 1972 Apr;69(4):659-88. doi: 10.1530/acta.0.0690659.
10
Gel electrophoresis of proteoglycans and glycosaminoglycans on large-pore composite polyacrylamide-agarose gels.蛋白聚糖和糖胺聚糖在大孔复合聚丙烯酰胺-琼脂糖凝胶上的凝胶电泳。
Anal Biochem. 1971 Dec;44(2):612-22. doi: 10.1016/0003-2697(71)90250-8.