Results 291 to 300 of about 90,641 (320)
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Current Opinion in Ophthalmology, 2016
Review recent advances in clinical and experimental studies of dominant optic atrophy (DOA) to better understand the complexities of pathophysiology caused by the optic atrophy 1 (OPA1) mutation.DOA is the most commonly diagnosed inherited optic atrophy, causing progressive bilateral visual loss that begins early in life.
Bo Y, Chun, Joseph F, Rizzo
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Review recent advances in clinical and experimental studies of dominant optic atrophy (DOA) to better understand the complexities of pathophysiology caused by the optic atrophy 1 (OPA1) mutation.DOA is the most commonly diagnosed inherited optic atrophy, causing progressive bilateral visual loss that begins early in life.
Bo Y, Chun, Joseph F, Rizzo
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Ophthalmic Genetics, 2023
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) can occur in NF1 patients.
Naoko Fukunaga +5 more
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Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) can occur in NF1 patients.
Naoko Fukunaga +5 more
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The Role of the Optic Atrophy 1 (OPA1) Protein in Drug‐Induced Liver Injury
The FASEB Journal, 2022The liver is the metabolic hub, and is responsible for the myriad of processes including the nutrient homeostasis and detoxification. Mitochondria of liver are critical for these functions. The detoxification process in liver, when severe, often results in liver damage through causing oxidative stress.
Hakjoo Lee, Hiromi Sesaki, Yisang Yoon
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Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae, 2022
Objective To investigate the effect of dual-specificity phosphatase 1/optical atrophy 1 (DUSP1/OPA1) signaling pathway on vascular smooth muscle cell (VSMC) calcification.Methods An in vitro model of VSMC calcification was induced by exposure to β-glycerophosphate and calcium chloride.VSMC calcification was assessed by Alizarin Red S staining and ...
Wei-Ren, Chen +7 more
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Objective To investigate the effect of dual-specificity phosphatase 1/optical atrophy 1 (DUSP1/OPA1) signaling pathway on vascular smooth muscle cell (VSMC) calcification.Methods An in vitro model of VSMC calcification was induced by exposure to β-glycerophosphate and calcium chloride.VSMC calcification was assessed by Alizarin Red S staining and ...
Wei-Ren, Chen +7 more
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Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?: Figure 1
Journal of Medical Genetics, 1999A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.
A P J Thomson, M Neugebauer, A Fryer
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A Novel Mutation of the OPA1 Gene in a Japanese Family with Optic Atrophy Type 1
Japanese Journal of Ophthalmology, 2002To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family.Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.The proband and ...
Satoko, Shimizu +5 more
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International Journal of Biological Macromolecules
Mitochondrial dynamics homeostasis is sustained by continuous and balanced fission and fusion, which are determinants of morphology, abundance, biogenesis and mitophagy of mitochondria. Optic atrophy 1 (OPA1), as the only inner mitochondrial membrane fusion protein, plays a key role in stabilizing mitochondrial dynamics.
Bi-Feng, Yao, Xiu-Ju, Luo, Jun, Peng
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Mitochondrial dynamics homeostasis is sustained by continuous and balanced fission and fusion, which are determinants of morphology, abundance, biogenesis and mitophagy of mitochondria. Optic atrophy 1 (OPA1), as the only inner mitochondrial membrane fusion protein, plays a key role in stabilizing mitochondrial dynamics.
Bi-Feng, Yao, Xiu-Ju, Luo, Jun, Peng
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
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