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Mapping genes for calcium signaling and their associated human genetic disorders
被引:17
|作者:
Hortenhuber, Matthias
[1
]
Toledo, Enrique M.
[1
]
Smedler, Erik
[1
]
Arenas, Ernest
[1
]
Malmersjo, Seth
[2
]
Louhivuori, Lauri
[1
]
Uhlen, Per
[1
]
机构:
[1] Karolinska Inst, Dept Med Biochem & Biophys, SE-17177 Stockholm, Sweden
[2] Stanford Univ, Sch Med, Dept Chem & Syst Biol, Stanford, CA 94305 USA
基金:
瑞典研究理事会;
关键词:
INHERITED DISORDERS;
CHANNELS;
MECHANISMS;
MUTATIONS;
ONTOLOGY;
DISEASES;
UPDATE;
TOOL;
D O I:
10.1093/bioinformatics/btx225
中图分类号:
Q5 [生物化学];
学科分类号:
071010 ;
081704 ;
摘要:
Motivation: Signal transduction via calcium ions (Ca2+) represents a fundamental signaling pathway in all eukaryotic cells. A large portion of the human genome encodes proteins used to assemble signaling systems that can transduce signals with diverse spatial and temporal dynamics. Results: Here, we provide a map of all of the genes involved in Ca2+ signaling and link these genes to human genetic disorders. Using Gene Ontology terms and genome databases, 1805 genes were identified as regulators or targets of intracellular Ca2+ signals. Associating these 1805 genes with human genetic disorders uncovered 1470 diseases with mutated 'Ca(2+)genes'. A network with scale-free properties appeared when the Ca2+ genes were mapped to their associated genetic disorders.
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页码:2547 / 2554
页数:8
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