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Items: 6

1.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
2.
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
Mei Zhao, Lingling Hou, Huajing Teng, Jinchen Li, Jiesi Wang, Kunlin Zhang, Lin Yang
Biomed Res Int. 2019; 2019: 3530198. Published online 2019 Apr 30. doi: 10.1155/2019/3530198
PMCID:
PMC6515145
AbstractArticlePDF–1.4M
3.
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells
Yu-Hsuan Hung, Hau-Lun Huang, Wei-Ching Chen, Meng-Chi Yen, Chien-Yu Cho, Tzu-Yang Weng, Chih-Yang Wang, Yi-Ling Chen, Li-Tzong Chen, Ming-Derg Lai
Oncol Rep. 2017 Feb; 37(2): 969–978. Published online 2016 Dec 23. doi: 10.3892/or.2016.5334
PMCID:
PMC5355748
AbstractArticlePDF–899K
4.
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
S L Naylor, R J Klebe, T B Shows
Proc Natl Acad Sci U S A. 1978 Dec; 75(12): 6159–6162. doi: 10.1073/pnas.75.12.6159
PMCID:
PMC393138
SummaryPage BrowsePDF–934K
5.
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
D C Walker, D A McCloskey, L R Simard, R R McInnes
Proc Natl Acad Sci U S A. 1990 Dec; 87(24): 9625–9629. doi: 10.1073/pnas.87.24.9625
PMCID:
PMC55225
SummaryPage BrowsePDF–1.3M
6.
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection
Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan
Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267
PMCID:
PMC5977207
AbstractArticlePDF–424K

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