المؤلفون: Е. S. Fedorov, S. О. Salugina, Е. Yu. Zakharova, А. N. Shapovalenko, S. G. Radenska-Lopovok, V. G. Matkava, А. N. Arefieva

المصدر: Научно-практическая ревматология, Vol 62, Iss 2, Pp 216-226 (2024)

مصطلحات موضوعية: genetics, autoinflammatory diseases, tnfaip3 gene, a20 haploinsufficiency, relopathies, behçet’s disease, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://rsp.mediar-press.net/rsp/article/view/3552; https://doaj.org/toc/1995-4484; https://doaj.org/toc/1995-4492

URL الوصول: https://doaj.org/article/1be9774c6e3a4c9199cd1dc478df9a9c

المؤلفون: Eva Bagyinszky, Seong Soo A. An

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 15, p 8275 (2024)

مصطلحات موضوعية: A20 haploinsufficiency, TNFAIP3 gene, haploinsufficiency, immune dysfunctions, autoimmunity, mutations, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/15/8275; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/c191fa06836a4c53ae54add604497b86

الاتاحة: https://doi.org/10.3390/ijms25158275
https://doaj.org/article/c191fa06836a4c53ae54add604497b86

المؤلفون: M. Debeljak, S. Blazina, J. Brecelj, T. Avčin, N. Toplak

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: haploinsufficiency A20, TNFAIP3 gene, NGS genetic testing, case report, clinical presentation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1132596/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/fbf45ff9cdd4486e8655230557e97380

المؤلفون: Saori Kadowaki, Kunio Hashimoto, Toyoki Nishimura, Kenichi Kashimada, Tomonori Kadowaki, Norio Kawamoto, Kohsuke Imai, Satoshi Okada, Hirokazu Kanegane, Hidenori Ohnishi

المصدر: Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: A20 haploinsufficiency, In vitro assay, Missense variant, TNFAIP3 gene, Variant classification, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1478-6362

URL الوصول: https://doaj.org/article/79f17a3f251843cfb2a0b29a82d1ddf2

المؤلفون: Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu, Li Sun

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: A20 haploinsufficiency, Hypothyroidism, Interstitial lung disease, Liver fibrosis, Macrophage activation syndrome, TNFAIP3 gene, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0856-1; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/3f4d3944825247fc837eac6786024abd

المؤلفون: Saori Kadowaki (10108577), Kunio Hashimoto (4039628), Toyoki Nishimura (9179960), Kenichi Kashimada (553971), Tomonori Kadowaki (10108580), Norio Kawamoto (159575), Kohsuke Imai (5060816), Satoshi Okada (385549), Hirokazu Kanegane (5461934), Hidenori Ohnishi (10108583)

مصطلحات موضوعية: Genetics, A20 haploinsufficiency, In vitro assay, Missense variant, TNFAIP3 gene, Variant classification

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Functional_analysis_of_novel_A20_variants_in_patients_with_atypical_inflammatory_diseases/13727504

الاتاحة: https://doi.org/10.6084/m9.figshare.13727504.v1

المؤلفون: Wei Deng, Yagiz Alp Aksoy, Rhiannon P. Kuchel, Tzong-Tyng Hung, Ewa M. Goldys, Wenjie Chen, Biyao Yang, Shane T. Grey, Nathan W. Zammit

المصدر: ACS Applied Materials & Interfaces. 12:52433-52444

مصطلحات موضوعية: Embryo, Nonmammalian, Materials science, Light, Green Fluorescent Proteins, Gene Expression, 02 engineering and technology, 010402 general chemistry, 01 natural sciences, Genome, Green fluorescent protein, Genome editing, Genes, Reporter, Animals, Humans, CRISPR, General Materials Science, Zebrafish, Tumor Necrosis Factor alpha-Induced Protein 3, Gene Editing, Liposome, Singlet Oxygen, biology, Tumor Necrosis Factor-alpha, HEK 293 cells, 021001 nanoscience & nanotechnology, biology.organism_classification, 0104 chemical sciences, Cell biology, HEK293 Cells, Liposomes, TNFAIP3 Gene, CRISPR-Cas Systems, 0210 nano-technology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9faf85b78c59620414bf488ee8af398b
https://doi.org/10.1021/acsami.0c16380

المؤلفون: Tomonori Kadowaki, Kenichi Kashimada, Hirokazu Kanegane, Norio Kawamoto, Hidenori Ohnishi, Toyoki Nishimura, Saori Kadowaki, Kunio Hashimoto, Satoshi Okada, Kohsuke Imai

المصدر: Arthritis Research & Therapy
Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, Mutation, Missense, Missense variant, Haploinsufficiency, Biology, TNFAIP3, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Humans, A20 haploinsufficiency, skin and connective tissue diseases, Tumor Necrosis Factor alpha-Induced Protein 3, 030203 arthritis & rheumatology, Genetics, Reporter gene, TNFAIP3 gene, HEK 293 cells, Wild type, NF-kappa B, 030104 developmental biology, HEK293 Cells, Variant classification, Mutation, Medical genetics, TNFAIP3 Gene, In vitro assay, lcsh:RC925-935, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b9a3d032ced34e49ab7c4f773d9e60f
https://pubmed.ncbi.nlm.nih.gov/33549127

المؤلفون: Farzaneh Yousefisadr, Elham Noormohamadi, Bahram Pakzad, Maryam Mousavi, Hadi Karimzadeh, Rasoul Salehi

المصدر: Medical Journal of the Islamic Republic of Iran

مصطلحات موضوعية: Autoimmune disease, Autoimmune Disorder, business.industry, Rheumatoid Arthritis, Single-nucleotide polymorphism, Genome-wide association study, General Medicine, medicine.disease, TNFAIP3, TNFAIP3 Gene, Polymorphism (computer science), Genotype, Immunology, Medicine, Original Article, business, Single-nucleotide Polymorphism, HRM, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24bbed757b59162b82c6f6ffd344ba2
https://doi.org/10.47176/mjiri.35.42

المؤلفون: Zhang, Xingang, Li, Wei, Zhang, Xinpeng, Zhao, Liang, Zhang, Xiaoli, Jiang, Li, Guo, Yun, Zhang, Jin, Liang, Zaifu, Wang, Xiaofei

مصطلحات موضوعية: TNFAIP3 gene, Single nucleotide polymorphism, Rheumatoid arthritis, Risk, Genetic susceptibility

Relation: http://www.biomedcentral.com/1471-2350/15/56

الاتاحة: http://www.biomedcentral.com/1471-2350/15/56

المؤلفون: Xuhan Liu, Di Yu, Baofeng Xu, Lan Wu, Xianjun Liu, Qi Wang, Jiaao Yu, Xueqi Fu, Xiaoju Shi, Meng Xu, Wenjing Gao, Shaofeng Wang

المصدر: Human Immunology. 80:140-145

مصطلحات موضوعية: Adult, Male, Risk, 0301 basic medicine, China, Genotype, Immunology, Population, Polymorphism, Single Nucleotide, TNFAIP3, Peripheral blood mononuclear cell, Cohort Studies, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Gene Frequency, immune system diseases, Humans, Lupus Erythematosus, Systemic, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Allele, skin and connective tissue diseases, education, Cells, Cultured, Genetic Association Studies, Tumor Necrosis Factor alpha-Induced Protein 3, Genetic association, education.field_of_study, business.industry, NF-kappa B, General Medicine, Odds ratio, Middle Aged, 030104 developmental biology, Leukocytes, Mononuclear, Female, TNFAIP3 Gene, business, Signal Transduction, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df29042761f9d7ce5664277e3f084285
https://doi.org/10.1016/j.humimm.2018.11.008

المؤلفون: Mayumi Tamari, Hidemi Nakagawa, Osamu Fukuchi, Toshihiro Ito, Yoshinori Umezawa, Michiko Ito, Hidehisa Saeki, Akihiko Asahina, Tomomitsu Hirota, Mami Momose

المصدر: The Journal of Dermatology. 47

مصطلحات موضوعية: Adult, Male, Genotyping Techniques, Drug Resistance, Dermatology, Polymorphism, Single Nucleotide, Asian People, Japan, Psoriasis, medicine, Humans, Receptors, Tumor Necrosis Factor, Type II, Tumor Necrosis Factor alpha-Induced Protein 3, Aged, Tumor Necrosis Factor-alpha, business.industry, Adalimumab, General Medicine, Middle Aged, medicine.disease, Infliximab, Anti-Tumor Necrosis Factor Therapy, Immunology, Female, Tumor necrosis factor alpha, TNFAIP3 Gene, Dermatologic Agents, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afda3ef03d668ab2b0533dac23c2746f
https://doi.org/10.1111/1346-8138.15200

المؤلفون: Nomoto Junko, Hiramoto Nobuhiro, Kato Motohiro, Sanada Masashi, Maeshima Akiko, Taniguchi Hirokazu, Hosoda Fumie, Asakura Yoshitaka, Munakata Wataru, Sekiguchi Naohiro, Maruyama Dai, Watanabe Takashi, Nakagama Hitoshi, Takeuchi Kengo, Tobinai Kensei, Ogawa Seishi, Kobayashi Yukio

المصدر: BMC Cancer, Vol 12, Iss 1, p 457 (2012)

مصطلحات موضوعية: FICTION analysis, Hodgkin lymphoma, TNFAIP3 gene, Homozygous deletion, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: http://www.biomedcentral.com/1471-2407/12/457; https://doaj.org/toc/1471-2407; https://doaj.org/article/412e73b12a424cefa2ba3f423ea78423

الاتاحة: https://doi.org/10.1186/1471-2407-12-457
https://doaj.org/article/412e73b12a424cefa2ba3f423ea78423

المؤلفون: Nomoto, Junko, Hiramoto, Nobuhiro, Kato, Motohiro, Sanada, Masashi, Maeshima, Akiko, Taniguchi, Hirokazu, Hosoda, Fumie, Asakura, Yoshitaka, Munakata, Wataru, Sekiguchi, Naohiro, Maruyama, Dai, Watanabe, Takashi, Nakagama, Hitoshi, Takeuchi, Kengo, Tobinai, Kensei, Ogawa, Seishi, Kobayashi, Yukio

مصطلحات موضوعية: FICTION analysis, Hodgkin lymphoma, TNFAIP3 gene, Homozygous deletion

Relation: http://www.biomedcentral.com/1471-2407/12/457

الاتاحة: http://www.biomedcentral.com/1471-2407/12/457

المؤلفون: Atsushi Kawakami, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Tadashi Matsumoto, Yasutomo Funakoshi, Kiyonori Miura, Yushiro Endo, Tomohiro Koga, Hirofumi Ohashi, Mami Takao

المصدر: Clinical Immunology. 235:108853

مصطلحات موضوعية: Autoimmune lymphoproliferative syndrome, Immunology, medicine, Immunology and Allergy, TNFAIP3 Gene, Biology, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c3476190ed4868480b7211f2715372ae
https://doi.org/10.1016/j.clim.2021.108853

المؤلفون: Andreas Agathangelidis, Kostas Stamatopoulos, Aliki Xochelli

المصدر: The Journal of Pathology. 243:403-406

مصطلحات موضوعية: 0301 basic medicine, Genetics, Chronic lymphocytic leukemia, Gene mutation, Biology, medicine.disease, TNFAIP3, 3. Good health, Pathology and Forensic Medicine, Lymphoma, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, hemic and lymphatic diseases, 030220 oncology & carcinogenesis, medicine, TNFAIP3 Gene, Hairy cell leukemia, IGHV@, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7ac9c5c4d5c8314a2cfae57f70e0117b
https://doi.org/10.1002/path.4982

المؤلفون: Zhoufeng Song, Liang Zhang, Renfu Quan, Yuan Xi'er, Qiang Zhou, Dawei Zhang, Jiujun Shi

المصدر: Archives of Medical Research. 48:386-392

مصطلحات موضوعية: Risk, 0301 basic medicine, Genotype, Single-nucleotide polymorphism, Bioinformatics, Polymorphism, Single Nucleotide, TNFAIP3, White People, Arthritis, Rheumatoid, 03 medical and health sciences, Asian People, Odds Ratio, Humans, Medicine, Genetic Predisposition to Disease, Gene, Genetic Association Studies, Tumor Necrosis Factor alpha-Induced Protein 3, business.industry, General Medicine, Odds ratio, medicine.disease, Confidence interval, 030104 developmental biology, Case-Control Studies, Rheumatoid arthritis, Meta-analysis, TNFAIP3 Gene, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1c468bde15eee095d1d55c02934c3b2
https://doi.org/10.1016/j.arcmed.2017.08.003

المؤلفون: Jacqueline Bailey, Shane T. Grey, Kazu Kikuchi, Tatyana Chtanova, Daniele Cultrone, Ozren Bogdanovic, Daniel Hesselson, Joanna Warren, Eleanor Self, David R. Croucher, Nathan W. Zammit, Jeremy Z. R. Han, Benno Postert

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Molecular biology, lcsh:Medicine, Diseases, Germline, Conserved sequence, Animals, Genetically Modified, 0302 clinical medicine, immune system diseases, hemic and lymphatic diseases, Missense mutation, Phosphorylation, lcsh:Science, Zebrafish, Conserved Sequence, 0303 health sciences, Multidisciplinary, Molecular medicine, biology, NF-kappa B, Recombinant Proteins, 3. Good health, 030220 oncology & carcinogenesis, Models, Animal, Functional genomics, Evolution, Immunology, Mutation, Missense, Danio, Locus (genetics), Computational biology, Article, Autoimmune Diseases, Evolution, Molecular, 03 medical and health sciences, Genetics, Animals, Humans, Gene, Tumor Necrosis Factor alpha-Induced Protein 3, 030304 developmental biology, Inflammation, Models, Genetic, Macrophages, lcsh:R, Genetic Variation, Zebrafish Proteins, biology.organism_classification, Amino Acid Substitution, lcsh:Q, TNFAIP3 Gene, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6961ec8b0e1aadd3aa8995e6377fcccb
https://doi.org/10.1101/2020.02.23.961763

المؤلفون: Hong Xu, Guomin Li, Wan-Zhen Guan, Li Sun, Haimei Liu, Bingbing Wu

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Liver Cirrhosis, Male, Arthritis, Case Report, Haploinsufficiency, 030105 genetics & heredity, Child, Oral Ulcer, Genetics (clinical), Exome sequencing, Macrophage Activation Syndrome, Interstitial lung disease, Rash, Arthralgia, Pedigree, Phenotype, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, lcsh:Internal medicine, Heterozygote, lcsh:QH426-470, Liver fibrosis, Folliculitis, 03 medical and health sciences, Hypothyroidism, Asian People, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, A20 haploinsufficiency, lcsh:RC31-1245, Tumor Necrosis Factor alpha-Induced Protein 3, Base Sequence, business.industry, TNFAIP3 gene, Perianal Abscess, medicine.disease, Inflammatory Bowel Diseases, Dermatology, Arthritis, Juvenile, lcsh:Genetics, 030104 developmental biology, Macrophage activation syndrome, Mutation, business, Lung Diseases, Interstitial

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f4086797155eac68eb4e1132a198845
http://europepmc.org/articles/PMC6624950

المؤلفون: Caroline Ospelt, Paul Martin, Amanda McGovern, Gisela Orozco, Mojca Frank-Bertoncelj, Xiangyu Ge, Stephen Eyre

المصدر: Oral Presentations.

مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, business.industry, Single-nucleotide polymorphism, Molecular biology, Chromatin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Regulatory sequence, Gene expression, Medicine, TNFAIP3 Gene, Epigenetics, business, Enhancer, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1589e73e1bec83172e2f80e0a696d3ee
https://doi.org/10.1136/annrheumdis-2019-eular.4094