المؤلفون: Elise Merritt, Chang S. Chan, Nicola Barnard, Bing Xia, Ying Chen, Anchal Sharma, Amar H. Mahdi, Jorge S. Reis-Filho, Subhajyoti De, Shridar Ganesan, Pier Selenica, Britta Weigelt, Yanying Huo

المصدر: Genes & Diseases. 9:807-813

مصطلحات موضوعية: 0301 basic medicine, Mutation, endocrine system diseases, animal diseases, PALB2, Mutant, Cell Biology, Biology, medicine.disease_cause, medicine.disease, Biochemistry, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Conditional gene knockout, medicine, Cancer research, Osteosarcoma, skin and connective tissue diseases, Carcinogenesis, Molecular Biology, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b323d0dc1662d6f972fa0b181e82ccfTest
https://doi.org/10.1016/j.gendis.2020.08.012Test

المؤلفون: Xiang Zhou, Qian Hao, Shanshan Wang, Yajie Chen, Xiaohua Wu, Jiajia Li, Hua Lu

المصدر: Genes & Diseases. 9:705-716

مصطلحات موضوعية: 0301 basic medicine, Mutant, Cancer, Cell Biology, Biology, medicine.disease, Biochemistry, Ubiquitin ligase, RING finger domain, 03 medical and health sciences, Ovarian tumor, 030104 developmental biology, 0302 clinical medicine, Ubiquitin, 030220 oncology & carcinogenesis, Ovarian carcinoma, medicine, biology.protein, Cancer research, Ovarian cancer, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d2dcb86c6fa5f469cb04a68d12a79eTest
https://doi.org/10.1016/j.gendis.2020.11.007Test

المؤلفون: Hong Yan, Mengxu Zhu, Debby D. Wang

المصدر: BMC Molecular and Cell Biology, Vol 22, Iss 1, Pp 1-13 (2021)
BMC Molecular and Cell Biology

مصطلحات موضوعية: 0301 basic medicine, Lung Neoplasms, Genotype, Receptor, ErbB-2, Mutant, Geometric properties, Drug resistance, Molecular Dynamics Simulation, Receptor, IGF Type 1, 03 medical and health sciences, 0302 clinical medicine, Molecular dynamics (MD) simulations, medicine, Humans, Epidermal growth factor receptor, Molecular Biology, Protein Kinase Inhibitors, biology, QH573-671, Chemistry, Wild type, Cancer, Cell Biology, Proto-Oncogene Proteins c-met, medicine.disease, Epidermal growth factor receptor (EGFR), ErbB Receptors, Crosstalk (biology), 030104 developmental biology, Drug Resistance, Neoplasm, 030220 oncology & carcinogenesis, Mutation, Cancer research, biology.protein, Signaling crosstalk, Mutant Proteins, Signal transduction, Cytology, Tyrosine kinase, EGFR signaling, Signal Transduction, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200076283f76b06da3ae47d3936f0648Test
https://doaj.org/article/72ff0c4962e545c9be5a7f5d28eacb98Test

المؤلفون: Sawako Nakamura, Shuichiro Yasuno, Osamu Ansai, Yutaka Shimomura, Ryota Hayashi

المصدر: The Journal of Dermatology. 48:1243-1249

مصطلحات موضوعية: Mutant, Mutation, Missense, Dermatology, Biology, medicine.disease_cause, C1-inhibitor, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Mutant protein, medicine, Humans, Missense mutation, Mutation, Hereditary Angioedema Types I and II, Angioedemas, Hereditary, General Medicine, medicine.disease, Molecular biology, In vitro, Cytoplasm, 030220 oncology & carcinogenesis, Hereditary angioedema, biology.protein, Complement C1 Inhibitor Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867cf1cff2258d8edd39279b5c55acc2Test
https://doi.org/10.1111/1346-8138.15930Test

المؤلفون: Jianhai Du, Erin Hennessey, Yekai Wang, Raymond Farmer, Michael J Scandura, Eric A. Pierce, Emily E Brown, Scott H. Greenwald

المصدر: Hum Mol Genet

مصطلحات موضوعية: Retinal degeneration, Poly Adenosine Diphosphate Ribose, Poly ADP ribose polymerase, Mutant, Poly (ADP-Ribose) Polymerase-1, Apoptosis, Retina, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, NMNAT1, Genetics, medicine, Animals, Humans, Sirtuins, Nicotinamide-Nucleotide Adenylyltransferase, Molecular Biology, Genetics (clinical), 030304 developmental biology, Mice, Knockout, 0303 health sciences, biology, Nicotinamide, Retinal Degeneration, General Medicine, NAD, medicine.disease, Molecular biology, Mice, Mutant Strains, Mice, Inbred C57BL, Disease Models, Animal, Oxidative Stress, Terminal deoxynucleotidyl transferase, chemistry, Mutation, Sirtuin, biology.protein, General Article, NAD+ kinase, 030217 neurology & neurosurgery, Chromatography, Liquid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a2e84d377adf80031d167b43d4b2c6Test
https://doi.org/10.1093/hmg/ddab070Test

المؤلفون: Xiao Xiao Lily Chen, Justin You, Jihye Rachel Kim, Rebekah van Bruggen, Ching Serena Kao, Hyeok Jun Lee, Mashiat Khan, David Duc Tran, Wooin Cho, Katarina Maksimovic, Jeehye Park

المصدر: Biochemical and Biophysical Research Communications. 568:48-54

مصطلحات موضوعية: 0301 basic medicine, Motor Disorders, Mutant, Biophysics, Endogeny, Locus (genetics), Biology, medicine.disease_cause, Biochemistry, Mice, 03 medical and health sciences, 0302 clinical medicine, Nuclear Matrix-Associated Proteins, Gene knockin, medicine, Animals, Point Mutation, Gene Knock-In Techniques, Amyotrophic lateral sclerosis, Molecular Biology, Motor Neurons, Mutation, Muscles, Amyotrophic Lateral Sclerosis, RNA-Binding Proteins, Cell Biology, medicine.disease, Pathogenicity, Molecular biology, MATR3 Gene, 030104 developmental biology, 030220 oncology & carcinogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a1f5815c4b8eea1b7791cc7ebaafa91Test
https://doi.org/10.1016/j.bbrc.2021.06.052Test

المؤلفون: Glen R. Monroe, Hannah S. van Meurs, S. T. Paijens, Gijs van Haaften, Edith D.J. Peters, Ferdinando Sereno, Joline F. Roze, Hans W. Nijman, J. W. Groeneweg, Luc R.C.W. van Lonkhuijzen, Anna G.J. Brink, Ronald P. Zweemer, Jurgen M.J. Piek, Christianne A.R. Lok

المساهمون: Obstetrics and Gynaecology, CCA - Imaging and biomarkers, Translational Immunology Groningen (TRIGR), Targeted Gynaecologic Oncology (TARGON)

المصدر: Gynecologic oncology, 162(2), 413-420. Academic Press Inc.
Gynecologic Oncology, 162(2), 413-420. ACADEMIC PRESS INC ELSEVIER SCIENCE

مصطلحات موضوعية: Forkhead Box Protein L2, 0301 basic medicine, Mutant, Granulosa cell tumor, medicine.disease_cause, Circulating Tumor DNA, chemistry.chemical_compound, 0302 clinical medicine, Medicine, Digital polymerase chain reaction, Prospective Studies, Promoter Regions, Genetic, Telomerase, Aged, 80 and over, Ovarian Neoplasms, Mutation, ORIGIN, Obstetrics and Gynecology, Middle Aged, Oncology, 030220 oncology & carcinogenesis, Biomarker (medicine), Female, FOXL2, SERUM INHIBIN, TERT, 03 medical and health sciences, HORMONE, AGE, Biomarkers, Tumor, Humans, Tert promoter mutation, TERM-FOLLOW-UP, Aged, business.industry, INHIBIN-B, ctDNA, Biomarker, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, MARKER, OVARY, Neoplasm Recurrence, Local, business, Ovarian cancer, DNA, Hormone

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2b598d94e5a6a244c2f65ae9bd3ca4Test
https://research.rug.nl/en/publications/e55ba04f-bee6-4aa2-b53f-c586e71850f5Test

المؤلفون: Xibo Zhang, Wenfeng Wang, Zinian Zhu, Bashan Zhang, Xueming Zhou, Beijing Luo, Rong Li, Aijiao Ding

المصدر: Annals of Human Genetics

مصطلحات موضوعية: animal structures, Mutant, Wnt1 Protein, Biology, medicine.disease_cause, WNT/β‐catenin signaling pathway, 03 medical and health sciences, Osteoclast, Genetics, medicine, Humans, Phosphorylation, Genetics (clinical), Cells, Cultured, beta Catenin, 030304 developmental biology, 0303 health sciences, Mutation, Glycogen Synthase Kinase 3 beta, Osteoblasts, 030305 genetics & heredity, Wnt signaling pathway, Wild type, Osteoblast, Cell Differentiation, Original Articles, Osteogenesis Imperfecta, medicine.disease, Molecular biology, AR‐OI, medicine.anatomical_structure, Phenotype, Gene Expression Regulation, RANKL, Osteogenesis imperfecta, embryonic structures, mutant WNT1, biology.protein, Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52114dd46d640c060a9e4e7d66db9d93Test
http://europepmc.org/articles/PMC7590185Test

المؤلفون: Shailender S. Chauhan, Amber N. Clements, Paul R. Langlais, Andrea L. Casillas, Anne E. Cress, Cindy K. Miranti, Corbin C. Jensen, Noel A. Warfel, Alva G. Sainz, Rachel K. Toth

المصدر: Oncogene

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Angiogenesis, Mutant, PIM1, Biology, Article, 03 medical and health sciences, angiogenesis, Mice, 0302 clinical medicine, Proto-Oncogene Proteins c-pim-1, Transcription (biology), Cell Line, Tumor, Neoplasms, medicine, Genetics, Basic Helix-Loop-Helix Transcription Factors, Animals, Humans, Threonine, Phosphorylation, Molecular Biology, PIM kinase, Neovascularization, Pathologic, Chemistry, Kinase, hypoxia, Protein Stability, HIF-1, Cancer, medicine.disease, Hypoxia-Inducible Factor 1, alpha Subunit, Cell biology, Oxygen tension, Gene Expression Regulation, Neoplastic, Disease Models, Animal, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Heterografts, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef638ed2732c677cb52f999a469d6a6Test
http://europepmc.org/articles/PMC8364516Test

المؤلفون: Clayton A. Wiley, Xinfeng Guo, Yi Sheng, Mazen Zenatai, Tony T. Wang, Timothy R. Billiar, Liyong Zhang, Richard A. Steinman, Beihong Ji, Junmei Wang, Qingde Wang

المصدر: Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-16 (2021)
Journal of Neuroinflammation

مصطلحات موضوعية: 0301 basic medicine, RNA editing, Interferonopathy, Adenosine Deaminase, Immunology, Mutant, In situ hybridization, Biology, Nervous System Malformations, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 0302 clinical medicine, Autoimmune Diseases of the Nervous System, Aicardi-Goutières syndrome (AGS), medicine, Animals, Animal model, RC346-429, Gene, Messenger RNA, General Neuroscience, Research, Wild type, RNA, Brain, medicine.disease, Molecular biology, Immunity, Innate, 030104 developmental biology, Neurology, Interferon Type I, Mutation, Adenosine Deaminase Acting on RNA 1 (ADAR1), Aicardi–Goutières syndrome, Cytokines, Neurology. Diseases of the nervous system, Chemokines, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91423e5dadf4ce9e09b44bd5ed31bd5Test
https://doaj.org/article/d4418d7f16db42b9a9f21e948a9db1b7Test