PMC Links for Nucleotide (Select 1653962471) - PMC

Select item 67426461.

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

Abstract Article PDF–1.2M

Select item 65151452.

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

Abstract Article PDF–1.4M

Select item 53557483.

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

Abstract Article PDF–899K

Select item 3931384.

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

Summary Page Browse PDF–934K

Select item 552255.

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

Summary Page Browse PDF–1.3M

Select item 61923236.

DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee, Inho Park

BMC Bioinformatics. 2018; 19: 381. Published online 2018 Oct 16. doi: 10.1186/s12859-018-2409-6

PMCID:: PMC6192323

Abstract Article PDF–1.7M

Select item 61679057.

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma

Orphanet J Rare Dis. 2018; 13: 174. Published online 2018 Oct 1. doi: 10.1186/s13023-018-0908-1

PMCID:: PMC6167905

Abstract Article PDF–772K

Select item 41080608.

Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells

Liang Zheng, Elaine D MacKenzie, Saadia A Karim, Ann Hedley, Karen Blyth, Gabriela Kalna, David G Watson, Peter Szlosarek, Christian Frezza, Eyal Gottlieb

Cancer Metab. 2013; 1: 12. Published online 2013 Mar 21. doi: 10.1186/2049-3002-1-12

PMCID:: PMC4108060

Abstract Article PDF–795K

Select item 15594979.

Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

Giuseppe Merla, Cédric Howald, Charlotte N. Henrichsen, Robert Lyle, Carine Wyss, Marie-Thérèse Zabot, Stylianos E. Antonarakis, Alexandre Reymond

Am J Hum Genet. 2006 Aug; 79(2): 332–341. Published online 2006 Jun 23. doi: 10.1086/506371

PMCID:: PMC1559497

Abstract Article PDF–877K

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