Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
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Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisMitochondrial cytochrome c oxidase deficiencyMitochondrial geneticsEvolution of the oxygen sensitivity of cytochrome c oxidase subunit 4.Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Adaptation of leukemia cells to hypoxic condition through switching the energy metabolism or avoiding the oxidative stressMitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathologyCase report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesishCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.The genetics and pathology of mitochondrial disease.Mechanisms of mitochondrial diseases.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachThe presence of anaemia negatively influences survival in patients with POLG disease.Diagnosis and management of congenital dyserythropoietic anemias.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
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P2860
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 05 March 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
@en
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
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type
label
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
@en
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
@nl
prefLabel
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
@en
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
@nl
P2093
P2860
P1476
Exocrine pancreatic insufficie ...... a mutation in the COX4I2 gene.
@en
P2093
Avraham Shaag
Eyal Shteyer
Fida' Aziz Al-Hijawi
Orly Elpeleg
Rojette Kidess
Shoshanah Revel-Vilk
P2860
P304
P356
10.1016/J.AJHG.2009.02.006
P407
P50
P577
2009-03-05T00:00:00Z