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1دورية أكاديمية
المؤلفون: Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: spinocerebellar ataxia type 14, PRKCG gene mutation, case report, exon11, dystaxia, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
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3دورية أكاديمية
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المؤلفون: Takehiko Ueyama, Haruo Shimazaki, Norio Sakai, Naoko Adachi, Naoaki Saito, Tatsuhiro Miyagi, Shigeru Tanaka, Toshihiko Shirafuji, Izumi Hide
المصدر: Molecular and Cellular Neuroscience. 98:46-53
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Nonsense mutation, Apoptosis, Caspase 3, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cell Line, Tumor, Chlorocebus aethiops, medicine, Animals, Humans, Spinocerebellar Ataxias, Missense mutation, Molecular Biology, Protein Kinase C, Protein kinase C, Cerebellar ataxia, Cell Biology, medicine.disease, PRKCG Gene, Molecular biology, 030104 developmental biology, Codon, Nonsense, COS Cells, Spinocerebellar ataxia, Cerebellar atrophy, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Caroline Albert, Andréanne Samson, Mariam Dessay, David Simonyan, Guylaine Gleeton, Edith Gagnon, François Jobin Gervais, Jacques P. Brown, Laëtitia Michou
المصدر: Bone Reports, Vol 13, Iss, Pp 100717-(2020)
مصطلحات موضوعية: 0301 basic medicine, lcsh:Diseases of the musculoskeletal system, Offspring, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Disease, Biology, 03 medical and health sciences, 0302 clinical medicine, p.Pro392Leu mutation, SQSTM1 gene, Clinical phenotype, medicine, Orthopedics and Sports Medicine, education, Genetics, education.field_of_study, Bone scan, medicine.disease, PRKCG Gene, 3. Good health, Paget's disease of bone, Cohort, Mutation (genetic algorithm), 030101 anatomy & morphology, lcsh:RC925-935
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6دورية أكاديمية
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7
المؤلفون: Rita Machado, Orlando Galego, Carolina Fernandes, Inês Elias, Gustavo C. Santo, Maria Rosário Almeida, Ana Rita Silva
المصدر: Journal of neurology. 268(4)
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Neurology, CADASIL, Biology, medicine.disease, Emotional dysregulation, PRKCG Gene, Phenotype, Magnetic Resonance Imaging, Hyperintensity, Mutation, Sequestosome-1 Protein, medicine, Dementia, Humans, Neurology (clinical), Receptor, Notch3, Neuroradiology
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8Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14
المؤلفون: Etsuko Shimobayashi, Josef P. Kapfhammer
المصدر: Molecular Brain, Vol 10, Iss 1, Pp 1-11 (2017)
Molecular Brainمصطلحات موضوعية: 0301 basic medicine, Protein domain, Purkinje cell, Mice, Transgenic, Protein kinase C gamma, Biology, Transfection, medicine.disease_cause, lcsh:RC346-429, Tissue Culture Techniques, Purkinje Cells, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Protein Domains, Catalytic Domain, medicine, Animals, Humans, Spinocerebellar Ataxias, Molecular Biology, Cells, Cultured, Protein Kinase C, lcsh:Neurology. Diseases of the nervous system, C2 domain, Mutation, Purkinje cell dendritic development, Spinocerebellar ataxia type 14, Research, Point mutation, Biological activity, Dendrites, medicine.disease, PRKCG Gene, Molecular biology, 030104 developmental biology, medicine.anatomical_structure, Spinocerebellar ataxia, Mutant Proteins, 030217 neurology & neurosurgery
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9
المؤلفون: Geraint Fuller, Maggie M. K. Wong, Jane Vowles, Lauren M Watson, Andrea H. Németh, Kevin Talbot, Esther B. E. Becker, Stephanie D. Hoekstra, Sally A. Cowley, Olaf Ansorge
المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)
Acta Neuropathologica Communicationsمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cerebellum, Ataxia, Induced Pluripotent Stem Cells, Stem cells, Protein kinase C gamma, Biology, Models, Biological, Protein Aggregation, Pathological, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Catalytic Domain, medicine, Humans, Spinocerebellar Ataxias, Neurodegeneration, Kinase activity, Induced pluripotent stem cell, lcsh:Neurology. Diseases of the nervous system, Protein Kinase C, C1 domain, Aged, Middle Aged, medicine.disease, PRKCG Gene, 3. Good health, Cell biology, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Purkinje cells, Mutation, Nerve Degeneration, Spinocerebellar ataxia, Female, Neurology (clinical), Autopsy, medicine.symptom, Protein Kinases, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Hong-Kai Wang, Wei-wei Shen, Tongwei Chu, Tongquan Liao, Ying Zhang, Pei Chen, Xu Hu
المصدر: Tumor Biology. 35:12671-12677
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Adolescent, Genotype, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Young Adult, Gene Frequency, Odds Ratio, medicine, Humans, Genetic Predisposition to Disease, Allele, Child, neoplasms, Allele frequency, Alleles, Protein Kinase C, Osteosarcoma, Haplotype, General Medicine, Middle Aged, medicine.disease, PRKCG Gene, Genotype frequency, Haplotypes, Case-Control Studies, Cancer research, Female
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