Associated Papers
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Association of mitochondrial DNA variation with high myopia in a Han Chinese population.
Xing S et al.
Molecular Genetics and Genomics : Mgg, 2023
Mitochondrial copper in human genetic disorders.
Garza NM et al.
Trends in Endocrinology and Metabolism: Tem, 2023
Development of a novel PTD-mediated IVT-mRNA delivery platform for potential protein replacement therapy of metabolic/genetic disorders.
Miliotou AN et al.
Molecular Therapy. Nucleic Acids, 2021
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Rebelo AP et al.
Brain : a Journal of Neurology, 2018
Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.
Gupta S et al.
Experimental Eye Research, 2017
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Feng CY et al.
Scientific Reports, 2017
Exome Sequence Analysis of 14 Families With High Myopia.
Kloss BA et al.
Investigative Ophthalmology & Visual Science, 2017
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.
Piekutowska-Abramczuk D et al.
Jimd Reports, 2016
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D et al.
Investigative Ophthalmology & Visual Science, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.
Zhu X et al.
Nature Neuroscience, 2014
Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases.
Chadha R et al.
Bioinformation, 2014
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.
Pronicka E et al.
Mitochondrion, 2013
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Tran-Viet KN et al.
American Journal of Human Genetics, 2013
Intracellular delivery of full length recombinant human mitochondrial L-Sco2 protein into the mitochondria of permanent cell lines and SCO2 deficient patient's primary cells.
Foltopoulou PF et al.
Biochimica Et Biophysica Acta, 2010
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
Pronicki M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L et al.
American Journal of Physiology. Cell Physiology, 2009
Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.
Vesela K et al.
Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2008
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
Stiburek L et al.
The Biochemical Journal, 2005
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.
Vesela K et al.
Acta Paediatrica (oslo, Norway : 1992), 2004
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
Tay SK et al.
Archives of Neurology, 2004
Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity.
Foltopoulou PF et al.
Molecular Genetics and Metabolism, 2004
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.
Salviati L et al.
The Biochemical Journal, 2002
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
Jaksch M et al.
Neurology, 2001
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Sue CM et al.
Brain Pathology (zurich, Switzerland), 2000
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Sue CM et al.
Annals of Neurology, 2000
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Papadopoulou LC et al.
Nature Genetics, 1999