Results 241 to 250 of about 248,926 (292)

Thymidine phosphorylase promotes SARS-CoV-2 spike protein-driven lung tumor development. [PDF]

Front Immunol
Wallace C, Gileles-Hillel A, Cox A, Gozal D, Li W, Yue H.   +5 more
europepmc   +1 more source

Barriers to growth hormone access in pediatric patients at an academic medical center. [PDF]

Am J Health Syst Pharm
Parrish C, Baird D, Redd T, Moore RP, Choi L, Zuckerman AD, Cruchelow KR.   +6 more
europepmc   +1 more source

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Nature Genetics, 1999
Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Mitochondrial DNA (mtDNA) encodes three COX subunits (I-III) and nuclear DNA (nDNA) encodes ten.
Lefkothea C Papadopoulou, Ichizo Nishino, Michio Hirano   +2 more
exaly   +3 more sources

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

Human Genetics, 1997
Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous.
Pierre Rustin, Agnes Rotig
exaly   +3 more sources

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

Nature Genetics, 1996
We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle and 0.7% in leukocytes.
J A, Keightley, K C, Hoffbuhr, M D, Burton, V M, Salas, W S, Johnston, A M, Penn, N R, Buist, N G, Kennaway   +7 more
exaly   +3 more sources

Phenotypes of the COX-deficient mice indicate physiological and pathophysiological roles for COX-1 and COX-2

Prostaglandins & Other Lipid Mediators, 2002
The development of mice deficient in either cyclooxygenase-1 (COX-1) or COX-2, as well as mice deficient in both COX isoforms, has provided models to elucidate the physiological and pathophysiological roles of these enzymes. The findings obtained with the COX-deficient mice suggest that COX-2 may be more important than COX-1 for supplying ...
Charles D, Loftin, Howard F, Tiano, Robert, Langenbach   +2 more
openaire   +2 more sources

Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease

Mitochondrion, 2011
We studied cytochrome c oxidase (COX) expression patterns in nuclear and mtDNA gene defects. Using quantitative immunocytochemical assay for COX, heteroplasmic staining was seen in MELAS patients with mtDNA mutations but similar staining variability was seen in control cell lines and nuclear gene defects.
Ailian, Du, Robert K, Naviaux, Thuy, Le, Congfeng, Xu, Steven S, Sommer, Richard H, Haas   +5 more
openaire   +3 more sources