A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis.

Suppr

超能文献

作者信息

Meigel W N, Müller P K, Pontz B F, Sörensen N, Spranger J

出版信息

Klin Wochenschr. 1974 Oct 1;52(19):906-12. doi: 10.1007/BF01468935.

DOI:10.1007/BF01468935

PMID:4457717

Abstract

摘要

相似文献

A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis.

Klin Wochenschr. 1974 Oct 1;52(19):906-12. doi: 10.1007/BF01468935.

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.一种新的致死性疾病，涉及I型和III型胶原蛋白缺陷，类似于骨皮肤发育不全、德巴尔西综合征和埃勒斯-当洛综合征IV型。

J Med Genet. 1998 Jun;35(6):513-8. doi: 10.1136/jmg.35.6.513.

The Winchester syndrome: a nonlysosomal connective tissue disease.温彻斯特综合征：一种非溶酶体性结缔组织病。

J Pediatr. 1974 May;84(5):701-9. doi: 10.1016/s0022-3476(74)80012-0.

Biology and pathology at the molecular level of connective tissue fibrous proteins.

Arch Belg Dermatol Syphiligr. 1972 Jan-Mar;28(1):15-30.

Metabolic pathways and control mechanisms involved in the biosynthesis and turnover of collagen in normal and pathological connective tissues.正常和病理结缔组织中胶原蛋白生物合成与更新所涉及的代谢途径及调控机制。

J Oral Pathol. 1973;2(4):175-202. doi: 10.1111/j.1600-0714.1973.tb01682.x.

A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.一种遗传性结缔组织疾病。羟赖氨酸缺乏性胶原病。

N Engl J Med. 1972 May 11;286(19):1013-20. doi: 10.1056/NEJM197205112861901.

Collagen biosynthesis in lichen sclerosus et atrophicus studied by biochemical and in situ hybridization techniques.运用生化及原位杂交技术研究硬化萎缩性苔藓中的胶原蛋白生物合成。

Acta Derm Venereol Suppl (Stockh). 1991;162:3-12.

[Morphology, biochemistry and function of proteoglycans in the skin].[皮肤中蛋白聚糖的形态学、生物化学及功能]

Hautarzt. 1975 Mar;26(3):111-7.

[Diagnostic parameter of collagen biosynthesis].[胶原蛋白生物合成的诊断参数]

Internist (Berl). 1980 Apr;21(4):195-201.

Defects in collagen fibrillogenesis causing hyperextensible, fragile skin in dogs.

J Am Vet Med Assoc. 1983 Jan 15;182(2):142-8.

引用本文的文献

From Structure to Phenotype: Impact of Collagen Alterations on Human Health.从结构到表型：胶原改变对人类健康的影响。

Int J Mol Sci. 2018 May 8;19(5):1407. doi: 10.3390/ijms19051407.

Collagen metabolism: a comparison of diseases of collagen and diseases affecting collagen.胶原蛋白代谢：胶原蛋白疾病与影响胶原蛋白的疾病之比较

Am J Pathol. 1980 Jan;98(1):225-80.

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.一名患有某种成骨不全症患者的I型胶原蛋白中α2链异常。

J Clin Invest. 1983 Mar;71(3):689-97. doi: 10.1172/jci110815.

An unusual pattern of peptide-bound lysine metabolism in collagen from an infant with lethal perinatal osteogenesis imperfecta.一名患有致死性围产期成骨不全症婴儿的胶原蛋白中肽结合赖氨酸代谢的异常模式。

J Clin Invest. 1984 Jun;73(6):1569-75. doi: 10.1172/JCI111363.

Analysis of changes in collagen biosynthesis that occur when chick chondrocytes are grown in 5-bromo-2'-deoxyuridine.对鸡软骨细胞在5-溴-2'-脱氧尿苷中生长时发生的胶原蛋白生物合成变化的分析。

Proc Natl Acad Sci U S A. 1975 Nov;72(11):4511-5. doi: 10.1073/pnas.72.11.4511.

Diseases of the collagen molecule.胶原分子疾病。

J Clin Pathol Suppl (R Coll Pathol). 1978;12:82-94.

Osteogenesis imperfecta: evidence for the existence of an abnormal amino acid sequence in the molecule of dermal collagen.成骨不全症：真皮胶原蛋白分子中存在异常氨基酸序列的证据。

J Inherit Metab Dis. 1978;1(4):123-8. doi: 10.1007/BF01805580.

本文引用的文献

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY.杆状体肌病。一种新的先天性肌病。

Brain. 1963 Dec;86:793-810. doi: 10.1093/brain/86.4.793.

Molecular weight determination of random coil polypeptides from collagen by molecular sieve chromatography.通过分子筛色谱法测定胶原蛋白中无规卷曲多肽的分子量

Anal Biochem. 1968 Nov;26(2):305-12. doi: 10.1016/0003-2697(68)90342-4.

[Hereditary arthro-ophthalmopathy].

Ann Radiol (Paris). 1968;11(5):359-64.

Congenital contractural arachnodactyly. A heritable disorder of connective tissue.先天性挛缩性蜘蛛指。一种结缔组织的遗传性疾病。

J Bone Joint Surg Am. 1971 Jul;53(5):987-93.

Identification of three genetically distinct collagens by cyanogen bromide cleavage of insoluble human skin and cartilage collagen.通过对不溶性人皮肤和软骨胶原蛋白进行溴化氰裂解鉴定出三种基因不同的胶原蛋白。

Biochem Biophys Res Commun. 1971 Mar 19;42(6):1024-9. doi: 10.1016/0006-291x(71)90006-4.

A calcitonin-secreting medullary thyroid carcinoma associated with mucosal neuromas, marfanoid features, myopathy and pigmentation.一种与黏膜神经瘤、类马凡氏体型、肌病和色素沉着相关的分泌降钙素的甲状腺髓样癌。

Am J Med. 1970 Jan;48(1):120-6. doi: 10.1016/0002-9343(70)90106-3.

Procollagen peptidase: an enzyme excising the coordination peptides of procollagen.前胶原肽酶：一种切除前胶原中协调肽的酶。

Proc Natl Acad Sci U S A. 1971 Dec;68(12):3054-8. doi: 10.1073/pnas.68.12.3054.

The nature of the collagen synthesized by cultured human fibroblasts.培养的人成纤维细胞合成的胶原蛋白的性质。

Proc Natl Acad Sci U S A. 1971 Feb;68(2):454-8. doi: 10.1073/pnas.68.2.454.

Chick cartilage collagen: a new type of alpha 1 chain not present in bone or skin of the species.鸡软骨胶原蛋白：一种该物种骨骼和皮肤中不存在的新型α1链。

Proc Natl Acad Sci U S A. 1969 Dec;64(4):1264-8. doi: 10.1073/pnas.64.4.1264.

Collagen made of extended -chains, procollagen, in genetically-defective dermatosparaxic calves.基因缺陷的皮肤松垂症小牛中由伸展链组成的胶原蛋白，即前胶原。

Eur J Biochem. 1971 Dec 10;23(3):533-43. doi: 10.1111/j.1432-1033.1971.tb01651.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验