المؤلفون: Shuang-Jian Qiu, Ruo-Yu Guan, Jian Sun, Cheng Zhou, Jia Fan, Bao-Ye Sun, Gao Liu, Jian Zhou, Zhu-Tao Wang, Pei-Yun Zhou, Zhang-Fu Yang, Yong Yi

المصدر: Digestive and Liver Disease. 54:692-700

مصطلحات موضوعية: Carcinoma, Hepatocellular, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Lipid droplet, Humans, Medicine, Protein kinase B, PI3K/AKT/mTOR pathway, Adaptor Proteins, Signal Transducing, Gene knockdown, Hepatology, business.industry, Kinase, Liver Neoplasms, Gastroenterology, Signal transducing adaptor protein, Lipid metabolism, Lipid Metabolism, digestive system diseases, Cell biology, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, Phosphatidylinositol 3-Kinase, business, Proto-Oncogene Proteins c-akt, Chromatin immunoprecipitation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ffb983417d36a4e94d98d1f3348084Test
https://doi.org/10.1016/j.dld.2021.05.002Test

المؤلفون: Victor Murcia Pienkowski, Saima Riazuddin, Matthew J. Schultz, S. Amer Riazuddin, Foong-Yen Lim, Nicola Perrotti, Claudia Gonzaga-Jauregui, Muhammad A. Usmani, Zubair M. Ahmed, Hane Lee, Erik G. Puffenberger, Anneke J.A. Kievit, Tommaso Pippucci, Pamela Magini, Emma Colao, M. Mahdi Motazacker, Rebecca Hernan, Mureed Hussain, Karlla W. Brigatti, Wendy K. Chung, Matias Wagner, Marco Seri, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Karolina Matuszewska, Hans van Bokhoven, Faiza Rasheed, J. S. Klein Wassink-Ruiter, Kristen J. Rasmussen, Verena Kraus, Jessica Kianmahd, Julian A. Martinez-Agosto, Flavia Palombo, Rafał Płoski, Sheikh Riazuddin

المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, ANS - Complex Trait Genetics, Faculteit Medische Wetenschappen/UMCG, Clinical Genetics

المصدر: American Journal of Human Genetics, 108, 1330-1341
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)

مصطلحات موضوعية: Male, Ap-1 Complex, Ap1g1, Pakistani Families, Developmental Delay, Epilepsy, Exome Sequencing, Genetic Heterogeneity, Intellectual Disabilities, Neurodevelopment Disorder, Developmental Disabilities, DNA Mutational Analysis, genetic heterogeneity, 0302 clinical medicine, Neurodevelopmental disorder, SIGNALS, BINDING, Missense mutation, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, biology, Signal transducing adaptor protein, CLATHRIN ADAPTER COMPLEX, Pedigree, developmental delay, Female, intellectual disabilities, STRUCTURAL BASIS, RECRUITMENT, DOMAINS, PROTEINS, Protein subunit, Adaptor Protein Complex 1, neurodevelopment disorder, Pakistani families, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Intellectual Disability, Report, medicine, Animals, Humans, AP-1 complex, Allele, Alleles, 030304 developmental biology, Messenger RNA, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic heterogeneity, AP1G1, biology.organism_classification, medicine.disease, AP-1, Rats, HEK293 Cells, Neurodevelopmental Disorders, CELLS, epilepsy, exome sequencing, 030217 neurology & neurosurgery, PATHOGENICITY

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb82f44ab70c0b8b78cf4169f26d7a79Test
https://doi.org/10.1016/j.ajhg.2021.05.007Test

المؤلفون: Fan Siyuan, Zhou Lixin, Wang Jing, Liu Mange, Ren Haitao, Guan Hongzhi

المصدر: Journal of Neurology. 268:4163-4169

مصطلحات موضوعية: Central Nervous System, Male, Pathology, medicine.medical_specialty, Cerebellar Ataxia, Adaptor Protein Complex 3, Central nervous system, Spinal Cord Diseases, 03 medical and health sciences, 0302 clinical medicine, Sensory ataxia, Cerebrospinal fluid, Cerebellum, medicine, Humans, Adaptor Protein Complex beta Subunits, 030212 general & internal medicine, Autoantibodies, biology, Cerebellar ataxia, business.industry, Vesicle coat, Autoantibody, Middle Aged, medicine.anatomical_structure, Neurology, Cerebellar cortex, biology.protein, Neurology (clinical), Antibody, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afb0edd09b3ea22793a291360739ec2aTest
https://doi.org/10.1007/s00415-021-10496-8Test

المؤلفون: Moriatsu Kyan, Tasuku Nishino, Tsuyoshi Oshika, Hiroaki Konishi

المصدر: Cellular & Molecular Biology Letters, Vol 26, Iss 1, Pp 1-11 (2021)
Cellular & Molecular Biology Letters

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Stimulation, Apoptosis, Protein aggregation, Adaptor protein, Biochemistry, Time-Lapse Imaging, Tyrosine phosphorylation, 03 medical and health sciences, chemistry.chemical_compound, Protein Aggregates, 0302 clinical medicine, EGF receptor, Protein Domains, Glycine-rich, Chlorocebus aethiops, Research Letter, Animals, Humans, Phosphorylation, Receptor, Molecular Biology, GRB2 Adaptor Protein, Epidermal Growth Factor, QH573-671, Cell growth, Signal transducing adaptor protein, Cell Biology, Subcellular localization, Cell biology, 030104 developmental biology, chemistry, COS Cells, Cytology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1242cceb63035eda52f5e847f663f2Test
https://doaj.org/article/6edff274754b4e91998acf91c0b17208Test

المؤلفون: Mark Stevenson, Gemma F. Codner, Rajesh V. Thakker, Michelle Stewart, Sara Wells, Fadil M. Hannan, Kreepa Kooblall, Asha L. Bayliss, Lydia Teboul, Victoria Stokes, Caroline M Gorvin

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, medicine.medical_specialty, Cinacalcet, Hypercalcaemia, Adaptor Protein Complex sigma Subunits, Adaptor Protein Complex 2, Parathyroid hormone, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, Bone Density, Internal medicine, Genetics, medicine, Animals, Humans, Missense mutation, Receptor, Molecular Biology, Genetics (clinical), 030304 developmental biology, Gene Editing, 0303 health sciences, Mutation, Signal transducing adaptor protein, General Medicine, medicine.disease, Disease Models, Animal, Fibroblast Growth Factor-23, Phenotype, Endocrinology, Hypercalcemia, Calcium, General Article, CRISPR-Cas Systems, Calcium-sensing receptor, Receptors, Calcium-Sensing, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5acc8a4ea2bc4c9ba9c46bb29e52f18Test
https://doi.org/10.1093/hmg/ddab076Test

المؤلفون: Balraj Doray, Stuart Kornfeld, Benjamin C. Jennings, Lin Liu, Wang Sik Lee

المصدر: FEBS Open Bio, Vol 11, Iss 2, Pp 367-374 (2021)
FEBS Open Bio

مصطلحات موضوعية: 0301 basic medicine, Adaptor Protein Complex 1, Transferases (Other Substituted Phosphate Groups), Cathepsin D, Mannose, GGA3, GGA2, GGA1, General Biochemistry, Genetics and Molecular Biology, HeLa, Gene Knockout Techniques, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, 0302 clinical medicine, Humans, Receptor, lcsh:QH301-705.5, Research Articles, Cathepsin, biology, Signal transducing adaptor protein, cathepsin D sorting, Golgi apparatus, CI‐MPR, biology.organism_classification, AP‐1, Cell biology, Adaptor Proteins, Vesicular Transport, 030104 developmental biology, chemistry, lcsh:Biology (General), 030220 oncology & carcinogenesis, symbols, Lysosomes, Research Article, HeLa Cells, trans-Golgi Network

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206666482ae9c0f065bee97d9d5991d6Test
https://doaj.org/article/2e7303a512364d849821ba9848d2950aTest

المؤلفون: Ross Summer, Hoora Shaghaghi, Ivan O. Rosas, Bernadette R. Gochuico, Freddy Romero, Karina Cuevas-Mora, Willy Roque

المصدر: Respiratory Research, Vol 22, Iss 1, Pp 1-11 (2021)
Respiratory Research

مصطلحات موضوعية: 0301 basic medicine, Adaptor Protein Complex 3, Respiratory Mucosa, Mitochondrion, Biology, AP3B1, 03 medical and health sciences, Idiopathic pulmonary fibrosis, Mice, 0302 clinical medicine, Mitochondrial unfolded protein response, Pulmonary fibrosis, medicine, Animals, Homeostasis, Adaptor Protein Complex beta Subunits, Lung, lcsh:RC705-779, Research, Interstitial lung disease, lcsh:Diseases of the respiratory system, respiratory system, medicine.disease, Cell biology, Mitochondria, Mice, Inbred C57BL, Pulmonary Alveoli, 030104 developmental biology, 030228 respiratory system, Mitochondrial biogenesis, Hermanski-Pudlak Syndrome, Hermansky–Pudlak syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f0fdf5bda7c18c6ca5f16d0896cfe3eTest
https://doaj.org/article/9baf7f7cb151499797917fd34bd9762aTest

المؤلفون: Stefano Freddi, Irene Schiano Lomoriello, Alexia Conte, Sara Sigismund, Maura Poli, Elena Gammella, Gaetano Cairo, Alessandra Alberghini, Stefania Recalcati

المصدر: Molecular Biology of the Cell. 32:98-108

مصطلحات موضوعية: 0303 health sciences, Iron, Endocytic cycle, Adaptor Protein Complex 2, Transferrin, Down-Regulation, Transferrin receptor, Hep G2 Cells, Cell Biology, Biology, Endocytosis, Adaptor Protein Complex mu Subunits, Cell biology, Protein Transport, 03 medical and health sciences, 0302 clinical medicine, Apoferritins, Receptors, Transferrin, Humans, Lysosomes, Molecular Biology, 030217 neurology & neurosurgery, HeLa Cells, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a4b2d3a69aa6fa75a83ebdf0ea7c79aTest
https://doi.org/10.1091/mbc.e20-02-0129Test

المؤلفون: Masayuki Kurimoto, Akane Hara, Yasuhiro Masuta, Tomohiro Watanabe, Ken Kamata, Tomoe Yoshikawa, Kosuke Minaga, Ryutaro Takada, Yasuo Otsuka, Ikue Sekai, Masatoshi Kudo

المصدر: Biochemical and Biophysical Research Communications. 568:55-61

مصطلحات موضوعية: 0301 basic medicine, Adoptive cell transfer, Regulatory T cell, Nod2 Signaling Adaptor Protein, Biophysics, Gene Expression, chemical and pharmacologic phenomena, Disease, Biology, T-Lymphocytes, Regulatory, Biochemistry, Proinflammatory cytokine, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, NOD2, Intracellular receptor, medicine, Animals, Colitis, Molecular Biology, Forkhead Transcription Factors, Cell Biology, medicine.disease, digestive system diseases, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Immunology, Gene Deletion, Muramyl dipeptide

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c5fc5f9e1ab70edabee4310a00b49aTest
https://doi.org/10.1016/j.bbrc.2021.06.068Test

المؤلفون: Melissa Thomas, Izabela Koryga, Adrienne M. Gorman, Leif A. Eriksson, Afshin Samali, Katarzyna Mnich, Karolina Pakos-Zebrucka, Susan E. Logue

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: autophagy, caspase, Caspase 8, Autophagy-Related Protein 5, Mice, 03 medical and health sciences, cell stress, 0302 clinical medicine, Animals, Humans, Integrated stress response, FADD, Caspase, 030304 developmental biology, Death domain, 0303 health sciences, biology, Chemistry, Endoplasmic reticulum, apoptosis, Signal transducing adaptor protein, Mouse Embryonic Stem Cells, Original Articles, Cell Biology, integrated stress response, Fibroblasts, Endoplasmic Reticulum Stress, Caspase 9, Cell biology, HEK293 Cells, 030220 oncology & carcinogenesis, Unfolded protein response, biology.protein, Molecular Medicine, Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ef7024e775f3c42337baa396ec9334Test
https://doi.org/10.1111/jcmm.16840Test