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SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.
Journal of applied genetics, 2004One of the most frequent forms of Leigh syndrome (LS), a severe neurodegenerative, genetically heterogenous disease, is associated with cytochrome c oxidase (COX) deficiency. No mutations in any of the 13 polypeptide subunits of human COX have been detected in LS patients.
D, Piekutowska-Abramczuk +6 more
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Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
AJNR. American journal of neuroradiology, 2003Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved
Andrea, Rossi +6 more
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Facial anomalies in patients with cytochrome-c-oxidase (COX) deficiency: a dysneurulation.
Minerva pediatrica, 2005The authors report 3 cases of cytochrome-c-oxidase deficiency (2 cases of Kearns-Sayre syndrome and 1 case of chronic progressive external ophthalmoplegia) with Central Nervous System alterations and facial anomalies. The facial anomalies are high forehead, wide nasal bridge, upturned nose, long and flat philtrum (alterations depending on frontal-nasal-
A, Piazzi, A, Berio
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Integrated genome analysis of COX deficiency in Japan
Neuromuscular Disorders, 2017K. Takayama +5 more
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Digestion, 2006
We compared the ulcerogenic effects of aspirin (ASA) and indomethacin in the rat gastric mucosa depending on the route of administration, together with the expression of COX-2.Animals fasted for 18 h were given ASA or indomethacin, either p.o. or s.c., and the stomach was examined 4 h later.Indomethacin decreased mucosal PGE(2 )level, increased gastric
Yuji, Mashita +4 more
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We compared the ulcerogenic effects of aspirin (ASA) and indomethacin in the rat gastric mucosa depending on the route of administration, together with the expression of COX-2.Animals fasted for 18 h were given ASA or indomethacin, either p.o. or s.c., and the stomach was examined 4 h later.Indomethacin decreased mucosal PGE(2 )level, increased gastric
Yuji, Mashita +4 more
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365 MECHANICAL HYPERALGESIA IN COX‐1 And COX‐2 DEFICIENT MICE FOLLOWING CARRAGEENAN INJECTION
European Journal of Pain, 2009J. Kroin +5 more
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Zhongguo shi yan xue ye xue za zhi, 2018
To detect the expression level of cyclooxygenase-1（COX-1） and cyclooxygenase-2（COX-2） in the platelet of iron deficiency anemia（IDA）women at childbearing age and to explore its correlation with the different indexes of anemia and platelets.Forty female IDA patients at childbearing age and 35 healthy controls were enrolled in this study.
Ying, Zhang +5 more
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To detect the expression level of cyclooxygenase-1（COX-1） and cyclooxygenase-2（COX-2） in the platelet of iron deficiency anemia（IDA）women at childbearing age and to explore its correlation with the different indexes of anemia and platelets.Forty female IDA patients at childbearing age and 35 healthy controls were enrolled in this study.
Ying, Zhang +5 more
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Surfeit-1 gene analysis in COX deficiency
Biochemical and Biophysical Research Communications, 1999Coenen, M.J.H. +8 more
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COX-DEFICIENT MUSCLE FIBERS IN HUMAN CREATINE DEPLETION - A NOVEL FINDING
Medicine & Science in Sports & Exercise, 2003O J. Heinonen +5 more
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