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1. Full Text Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
by Lopez-Herrera, Gabriela and Tampella, Giacomo and Pan-Hammarström, Qiang and Herholz, Peer and Trujillo-Vargas, Claudia M and Phadwal, Kanchan and Simon, Anna Katharina and Moutschen, Michel and Etzioni, Amos and Mory, Adi and Srugo, Izhak and Melamed, Doron and Hultenby, Kjell and Liu, Chonghai and Baronio, Manuela and Vitali, Massimiliano and Philippet, Pierre and Dideberg, Vinciane and Aghamohammadi, Asghar and Rezaei, Nima and Enright, Victoria and Du, Likun and Salzer, Ulrich and Eibel, Hermann and Pfeifer, Dietmar and Veelken, Hendrik and Stauss, Hans and Lougaris, Vassilios and Plebani, Alessandro and Gertz, E. Michael and Schäffer, Alejandro A and Hammarström, Lennart and Grimbacher, Bodo
American journal of human genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 986 - 1001
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Immunopathology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | B-Lymphocytes - cytology | Cell Proliferation | Agammaglobulinemia - genetics | Microscopy, Electron, Transmission - methods | Humans | Autoimmunity - genetics | Child, Preschool | Genotype | Immunophenotyping | Male | Chromosome Mapping | Autophagy | Homozygote | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Female | Models, Genetic | Mutation | Child | Apoptosis | Genetic Linkage | Autoimmunity | Gene mutations | Genetic susceptibility | Agammaglobulinemia | Causes of | Genetic aspects | Research | Immunoglobulins | Analysis | Immunodeficiency | Genetic research | Mitogens | Genotype & phenotype | Genetic disorders | Autoimmune diseases | Childrens health | Immune system | Index Medicus | Heredity | Hypogammaglobulinemia | Lipopolysaccharides | chromosome 4 | Cell activation | Lymphocytes B | Development | Genotypes | Phagocytosis | Linkage analysis | Medicin och hälsovetenskap
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2. Full Text KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect
by Metz, Kyle A and Teng, Xinchen and Coppens, Isabelle and Lamb, Heather M and Wagner, Bart E and Rosenfeld, Jill A and Chen, Xianghui and Zhang, Yu and Kim, Hee Jong and Meadow, Michael E and Wang, Tim Sen and Haberlandt, Edda D and Anderson, Glenn W and Leshinsky‐Silver, Esther and Bi, Weimin and Markello, Thomas C and Pratt, Marsha and Makhseed, Nawal and Garnica, Adolfo and Danylchuk, Noelle R and Burrow, Thomas A and Jayakar, Parul and McKnight, Dianalee and Agadi, Satish and Gbedawo, Hatha and Stanley, Christine and Alber, Michael and Prehl, Isabelle and Peariso, Katrina and Ong, Min Tsui and Mordekar, Santosh R and Parker, Michael J and Crooks, Daniel and Agrawal, Pankaj B and Berry, Gerard T and Loddenkemper, Tobias and Yang, Yaping and Maegawa, Gustavo H. B and Aouacheria, Abdel and Markle, Janet G and Wohlschlegel, James A and Hartman, Adam L and Hardwick, J. Marie
Annals of neurology, ISSN 0364-5134, 11/2018, Volume 84, Issue 5, pp. 766 - 780
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurodegenerative Diseases - pathology | Humans | Lysosomes - genetics | Child, Preschool | Infant | Male | Neurodegenerative Diseases - genetics | Saccharomyces cerevisiae Proteins - genetics | Potassium Channels - genetics | Pedigree | Age of Onset | Female | Lysosomes - pathology | Autophagy - genetics | Mutation | Potassium Channels - deficiency | Brain | Yeast | Epilepsy | Disorders | Lysosomal storage diseases | Lipids | Genomes | Autophagy | Data bases | Cullin | Proteins | Databases | Genetic analysis | Fibroblasts | Neuronal ceroid lipofuscinosis | Movement disorders | Neurodegenerative diseases | Nucleotide sequence | Regression analysis | Electron microscopy | Patients | Hereditary diseases | Domains | Potassium | Phagocytosis | Neurons and Cognition | Genomics | Cellular Biology | Neurodegenerative Diseases/pathology | Life Sciences | Autophagy/genetics | Genetics | Biomolecules | Lysosomes/genetics | Subcellular Processes | Potassium Channels/deficiency | Lysosomes/pathology | Biochemistry, Molecular Biology | Neurodegenerative Diseases/genetics | Potassium Channels/genetics | Saccharomyces cerevisiae Proteins/genetics | Molecular biology
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3. Full Text The LC3-conjugation machinery specifies the loading of RNA-binding proteins into extracellular vesicles
by Leidal, Andrew M and Huang, Hector H and Marsh, Timothy and Solvik, Tina and Zhang, Dachuan and Ye, Jordan and Kai, FuiBoon and Goldsmith, Juliet and Liu, Jennifer Y and Huang, Yu-Hsin and Monkkonen, Teresa and Vlahakis, Ariadne and Huang, Eric J and Goodarzi, Hani and Yu, Li and Wiita, Arun P and Debnath, Jayanta
Nature cell biology, ISSN 1465-7392, 02/2020, Volume 22, Issue 2, pp. 187 - 199
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Autophagosomes - chemistry | RNA-Binding Proteins - genetics | Sphingomyelin Phosphodiesterase - genetics | Receptors, Estrogen - metabolism | Extracellular Vesicles - chemistry | Lysosomes - chemistry | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Adaptor Proteins, Vesicular Transport - deficiency | Adaptor Proteins, Vesicular Transport - genetics | Gene Expression Profiling | Intracellular Signaling Peptides and Proteins - metabolism | Extracellular Vesicles - metabolism | Lysosomes - metabolism | Biological Transport | Sphingomyelin Phosphodiesterase - metabolism | HEK293 Cells | RNA, Small Untranslated - genetics | Autophagy - genetics | Proteomics - methods | Autophagy-Related Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | RNA, Small Untranslated - metabolism | Autophagy-Related Proteins - deficiency | Biotinylation | Receptors, Estrogen - genetics | Matrix Attachment Region Binding Proteins - metabolism | Gene Expression Regulation | Nuclear Matrix-Associated Proteins - metabolism | Autophagosomes - metabolism | Autophagy-Related Protein 7 - genetics | Heterogeneous-Nuclear Ribonucleoprotein K - genetics | RNA-Binding Proteins - classification | Heterogeneous-Nuclear Ribonucleoprotein K - metabolism | Animals | Nuclear Matrix-Associated Proteins - genetics | Matrix Attachment Region Binding Proteins - genetics | RAW 264.7 Cells | Mice | RNA-Binding Proteins - metabolism | Autophagy-Related Protein 7 - deficiency | RNA | Binding proteins | Protein binding | Binding | Cargo | Profiling | Target recognition | Secretion | Secretome | Ribonucleic acid--RNA | Autophagy | Machinery | Sphingomyelin phosphodiesterase | Proteins | Ribonucleoprotein K | Vesicles | RNA-binding protein | Proteomics | Packaging | Conjugation | Phagocytosis | Index Medicus
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4. Full Text LncRNA HULC triggers autophagy via stabilizing Sirt1 and attenuates the chemosensitivity of HCC cells
by Xiong, H and Ni, Z and He, J and Jiang, S and Li, X and He, J and Gong, W and Zheng, L and Chen, S and Li, B and Zhang, N and Lyu, X and Huang, G and Chen, B and Zhang, Y and He, F
Oncogene, ISSN 0950-9232, 06/2017, Volume 36, Issue 25, pp. 3528 - 3540
Biochemistry & Molecular Biology | Oncology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Sirtuin 1 - metabolism | Humans | Drug Resistance, Neoplasm | MicroRNAs - metabolism | Neoplasm Proteins - metabolism | Autophagy | RNA, Neoplasm - metabolism | Sirtuin 1 - genetics | Carcinoma, Hepatocellular - drug therapy | Carcinoma, Hepatocellular - genetics | Antineoplastic Agents - pharmacology | Enzyme Stability - genetics | Gene Expression Regulation, Neoplastic - drug effects | 3' Untranslated Regions | Neoplasm Proteins - genetics | Liver Neoplasms - genetics | Liver Neoplasms - drug therapy | RNA, Long Noncoding - genetics | Hep G2 Cells | Liver Neoplasms - metabolism | RNA, Neoplasm - genetics | MicroRNAs - genetics | Thiolester Hydrolases - genetics | Thiolester Hydrolases - metabolism | RNA, Long Noncoding - metabolism | Carcinoma, Hepatocellular - metabolism | Autophagy (Cytology) | Care and treatment | RNA | Development and progression | Genetic aspects | Hepatoma | Gene expression | Health aspects | Ubiquitin | Peptidase | 5-Fluorouracil | Chemoresistance | Hepatocellular carcinoma | mRNA | SIRT1 protein | Proteins | Liver cancer | Chemotherapy | Oxaliplatin | miRNA | Phagocytosis | Index Medicus
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5. Full Text Insights into TREM2 biology by network analysis of human brain gene expression data
by Forabosco, Paola and Ramasamy, Adaikalavan and Trabzuni, Daniah and Walker, Robert and Smith, Colin and Bras, Jose and Levine, Adam P and Hardy, John and Pocock, Jennifer M and Guerreiro, Rita and Weale, Michael E and Ryten, Mina
Neurobiology of aging, ISSN 0197-4580, 2013, Volume 34, Issue 12, pp. 2699 - 2714
Neurology | Internal Medicine | TREM2 | Post-mortem human brain | Alzheimer's disease | Weighted gene co-expression network analysis | Microglia | Immune system | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Genetic Predisposition to Disease - genetics | Membrane Glycoproteins - metabolism | Gene Expression - genetics | Humans | Immunity, Innate - genetics | Multiple Sclerosis - genetics | Adaptive Immunity - genetics | Membrane Glycoproteins - genetics | Brain - metabolism | Motor Neuron Disease - genetics | Protein Array Analysis | Genetic Variation - genetics | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Phagocytosis | Receptors, Immunologic - metabolism | Brain | Multiple sclerosis | Molecular genetics | Analysis | Genes | Amyloid beta-protein | Genetic research | Gene expression | Index Medicus | Regular
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6. Full Text PTBP1 promotes the growth of breast cancer cells through the PTEN/Akt pathway and autophagy
by Wang, Xu and Li, Yang and Fan, Yan and Yu, Xinmiao and Mao, Xiaoyun and Jin, Feng
Journal of cellular physiology, ISSN 0021-9541, 11/2018, Volume 233, Issue 11, pp. 8930 - 8939
breast cancer | autophagy | PTEN/Akt signal pathway | polypyrimidine tract binding protein 1 (PTBP1) | Physiology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | RNA-Binding Proteins - genetics | Receptor, ErbB-2 - genetics | Humans | Cell Movement - genetics | Neoplasm Metastasis | MCF-7 Cells | Neoplasm Invasiveness - pathology | Lymphatic Metastasis - pathology | Oncogene Protein v-akt - genetics | Female | Autophagy - genetics | Gene Expression Regulation, Neoplastic - genetics | PTEN Phosphohydrolase - genetics | Cell Proliferation - genetics | Signal Transduction - genetics | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Xenograft Model Antitumor Assays | Animals | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Lymphatic Metastasis - genetics | Mice | Neoplasm Invasiveness - genetics | Apoptosis | Polypyrimidine Tract-Binding Protein - genetics | Proteins | Breast cancer | Growth | Protein binding | Tensin | Homology | AKT protein | Metastasis | Tumor cell lines | Kinases | Tissues | Ribonucleic acid--RNA | Autophagy | Lymph nodes | 1-Phosphatidylinositol 3-kinase | Metastases | Phosphatidylinositol | RNA-binding protein | Cell growth | Tumorigenesis | Cell migration | PTEN protein | Phagocytosis | Cancer | Tumors | Index Medicus | Akt signal pathway | PTEN | Original | Original s
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7. Full Text Astrocyte-microglia cross talk through complement activation modulates amyloid pathology in mouse models of alzheimer’s disease
by Lian, Hong and Litvinchuk, Alexandra and Chiang, Angie C.-A and Aithmitti, Nadia and Jankowsky, Joanna L and Zheng, Hui
The Journal of neuroscience, ISSN 0270-6474, 01/2016, Volume 36, Issue 2, pp. 577 - 589
Amyloid | Mice | Alzheimer’s disease | C3a receptor | Microglia | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Glial Fibrillary Acidic Protein - genetics | Microglia - metabolism | Humans | Male | I-kappa B Proteins - metabolism | Phagocytosis - genetics | Glial Fibrillary Acidic Protein - metabolism | I-kappa B Proteins - genetics | Alzheimer Disease - pathology | Female | Alzheimer Disease - immunology | Complement C3 - genetics | Disease Models, Animal | Phagocytosis - drug effects | Complement C3 - metabolism | Mice, Inbred C57BL | Cells, Cultured | Presenilin-1 - genetics | Mice, Transgenic | Up-Regulation - genetics | Signal Transduction - genetics | Complement Activation - genetics | Amyloid beta-Protein Precursor - genetics | Animals | Signal Transduction - drug effects | Alzheimer Disease - genetics | Astrocytes - metabolism | Index Medicus | amyloid | Alzheimer's disease | mice | microglia
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