基因符号：COL11A1。疾病：马歇尔综合征。 - Suppr | 超能文献

Gene symbol: COL11A1. Disease: Marshall syndrome.

作者信息

Meisler M H, Griffith A J, Warman M, Tiller G, Sprunger L K

机构信息

Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.

出版信息

Hum Genet. 1998 Apr;102(4):498. doi: 10.1007/s004390050731.

DOI:10.1007/s004390050731

Abstract

摘要

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。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Gene symbol: COL11A1. Disease: Marshall syndrome.基因符号：COL11A1。疾病：马歇尔综合征。

Hum Genet. 1998 Apr;102(4):498. doi: 10.1007/s004390050731.

2

Marshall syndrome and a defect at the COL11A1 locus.马歇尔综合征与11型胶原α1链（COL11A1）基因座缺陷

Am J Hum Genet. 1998 Nov;63(5):1558-61. doi: 10.1086/302110.

3

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].

Tunis Med. 2015 Mar;93(3):170-4.

4

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.斯-韦二氏综合征：COL11A1基因的进一步突变及其他位点异质性的证据

Eur J Hum Genet. 1999 Oct-Nov;7(7):807-14. doi: 10.1038/sj.ejhg.5200377.

5

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.一个患有2型斯-利二氏综合征的家族，其COL11A1基因发生突变，导致α1（XI）型胶原蛋白中的甘氨酸97被缬氨酸取代。

Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339.

6

Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen.COL2A1基因第12外显子中CG二核苷酸处的反复转变导致了Kniest发育不良，软骨细胞和成淋巴细胞的RNA剪接异常，以及II型胶原三螺旋结构的中断。

Ann N Y Acad Sci. 1996 Jun 8;785:234-7. doi: 10.1111/j.1749-6632.1996.tb56270.x.

7

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online.

Hum Mutat. 1998;12(2):138. doi: 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D.

8

Stickler syndrome type 2 and linkage to the COL11A1 gene.2型斯蒂克勒综合征与COL11A1基因的连锁关系。

Ann N Y Acad Sci. 1996 Jun 8;785:331-2. doi: 10.1111/j.1749-6632.1996.tb56300.x.

9

Developmentally regulated alternative splicing of a nematode type IV collagen gene.线虫IV型胶原蛋白基因的发育调控可变剪接

Dev Biol. 1994 Jan;161(1):22-9. doi: 10.1006/dbio.1994.1003.

10

Carpal tunnel syndrome: The role of collagen gene variants.腕管综合征：胶原蛋白基因变异的作用。

Gene. 2016 Aug 1;587(1):53-8. doi: 10.1016/j.gene.2016.04.030. Epub 2016 Apr 14.

引用本文的文献

1

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.胶原蛋白11a1由淋巴细胞增强子结合因子1（Lef1）间接激活，并对成骨细胞成熟起负向调节作用。

Matrix Biol. 2008 May;27(4):330-8. doi: 10.1016/j.matbio.2008.01.002. Epub 2008 Jan 16.