Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

By Vamsi K. Mootha, P. Lepage, K. Miller, J. Bunkenborg, Michael Reich, Majbrit Hjerrild, T. Delmonte, Amélie Villeneuve, R. Sladek, Fenghao Xu and 7 more. Proceedings of the National Academy of Sciences of the United States of America, 2003

600 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/4e40405598ff9852045e68b407637b4381d95249

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Citations in the corpus

A census of human RNA-binding proteins (2014, background): “LRPPRC Leigh syndrome missense mutation (Mootha et al., 2003) MECP2 Rett syndrome, Xlinked mental retardation missense, nonsense mutation, frameshift, deletion (Amir et al.”
A haplotype map of the human genome (2003, background): “MtDNA haplogroup YRI (60) CEU (60) CHB (45) JPT (44)”
Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. (2003, methodology): “…we used2310005O14Rik, and Gbas. the neighborhood index (N100), a previously describedWe recently showed that tightly correlated members statistic that measures a given gene’s expression simi-of the OXPHOS biochemical pathway exhibit reduced larity to a target gene set (Mootha et al., 2003a).”
Applications for protein sequence–function evolution data: mRNA/protein expression analysis and coding SNP scoring tools (2006, methodology): “Using the whole distribution of values has been shown (9,14) to provide a more sensitive test than the simple list-based test described above.”
Large-scale gene function analysis with PANTHER Classification System (2013, methodology): “This tool, based on the work by the PANTHER group 29 and Lander’s group 30 for two different genomic data analyses at about the same time, uses the Mann-Whitney test 31 to determine whether any ontology class or pathway has numeric values that are nonrandomly distributed with respect to the entire…”
Genome-Wide Analysis of Arabidopsis Pentatricopeptide Repeat Proteins Reveals Their Essential Role in Organelle Biogenesis (2004, result): “These results confirm, but massively extend, the very sparse observations previously obtained from detailed characterization of individual mutants in other organisms.”
Improved human disease candidate gene prioritization using mouse phenotype (2007, background): “Integrating genomic and proteomic data, Mootha et al [13] identified LSFC (Leigh syndrome, French-Canadian type) causal gene.”
The abc's (and xyz's) of peptide sequencing (2004, methodology): “Integrative mRNA, proteomics and imaging techniques have also been applied to mammalian organelles, as was shown recently for mitochondri”