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一名常染色体隐性遗传性先天性鱼鳞病患者转谷氨酰胺酶-1基因的新型突变。

A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.

作者信息

Vaigundan D, Kalmankar Neha V, Krishnappa J, Gowda N Yellappa, Kutty A V M, Krishnaswamy Patnam R

机构信息

Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, India.

Molecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, India ; National Centre for Biological Sciences, Bangalore 560065, India.

出版信息

Biomed Res Int. 2014;2014:706827. doi: 10.1155/2014/706827. Epub 2014 Aug 10.

DOI:10.1155/2014/706827
PMID:25180191
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4142565/
Abstract

Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

摘要

通过生物信息学分析，发现了一名常染色体隐性先天性鱼鳞病患者转谷氨酰胺酶-1（TGM1）的一种新型纯合Trp250/Gly突变，并探讨了其结构-功能关系。与在类似结构分析中被认为有效的同源酶人因子XIIIA相比，推测了该突变的结构后果，并将其作为对如此突变的TGM1进行未来实验研究的指导方针。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/3cc58c97de9c/BMRI2014-706827.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/207925295c01/BMRI2014-706827.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/ac8663164bdc/BMRI2014-706827.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/b86b9bae815a/BMRI2014-706827.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/3cc58c97de9c/BMRI2014-706827.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/207925295c01/BMRI2014-706827.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/ac8663164bdc/BMRI2014-706827.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/b86b9bae815a/BMRI2014-706827.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6c/4142565/3cc58c97de9c/BMRI2014-706827.004.jpg

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