-
1دورية أكاديمية
المؤلفون: Hiroshi Takashima, Kohtarou Izumi, Masahiro Ando, Nobutaka Takahashi, Shinsuke Fujioka, Takayasu Mishima, Yoshio Tsuboi, Yujiro Higuchi
المصدر: Internal Medicine. 2023, 62(15):2253
-
2رسالة جامعيةAicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
المؤلفون: 千住 , 千佳子
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), SAMHD1, unscheduled DNA synthesis (UDS), cockayne syndrome (CS), transcription coupled repair (TCR)
وصف الملف: application/pdf
Degree: 博士(医学) -- Nagasaki University (長崎大学)
-
3دورية أكاديميةAicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
المؤلفون: Chikako Senju, Yuka Nakazawa, Mayuko Shimada, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), SAMHD1, unscheduled DNA synthesis (UDS), cockayne syndrome (CS), transcription coupled repair (TCR), Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1048002/fullTest; https://doaj.org/toc/2296-2360Test
-
4دورية أكاديمية
المؤلفون: Diletta Edifizi, Björn Schumacher
المصدر: Biomolecules, Vol 5, Iss 3, Pp 1855-1869 (2015)
مصطلحات موضوعية: Ultraviolet Light (UV), DNA damage, aging, Nucleotide-excision repair (NER), Global-genome nucleotide-excision repair (GG-NER), Transcription-coupled nucleotide excision repair (TC-NER), Cockayne syndrome (CS), somatotropic axis, growth hormone/insulin-like growth factor 1 (GH/IGF1) signaling, longevity, Microbiology, QR1-502
وصف الملف: electronic resource
-
5
المصدر: Frontiers in Pediatrics. 10:1048002
مصطلحات موضوعية: cockayne syndrome (CS), Aicardi-Goutières syndrome (AGS), transcription coupled repair (TCR), SAMHD1, unscheduled DNA synthesis (UDS)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=jairo_______::f4cd281bf0454fdaaf6733cda7365874Test
http://hdl.handle.net/10069/00042335Test -
6دورية أكاديمية
المؤلفون: Diletta Edifizi, Björn Schumacher
المصدر: International Journal of Molecular Sciences; Volume 18; Issue 11; Pages: 2329
مصطلحات موضوعية: DNA damage, aging, Nucleotide-excision repair (NER), Ultraviolet light (UV), Cockayne syndrome (CS), Xeroderma Pigmentosum (XP), growth hormone/insulin-like growth factor 1 (GH/IGF1) signaling, autophagy, protein homeostasis, lipid metabolism
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms18112329Test
-
7
المؤلفون: Chikako Senju, Yuka Nakazawa, Mayuko Shimada, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, Aicardi-Goutières syndrome (AGS), SAMHD1, unscheduled DNA synthesis (UDS), cockayne syndrome (CS), transcription coupled repair (TCR)
الإتاحة: https://doi.org/10.3389/fped.2022.1048002.s001Test
https://figshare.com/articles/dataset/Table1_Aicardi_Gouti_res_syndrome_with_SAMHD1_deficiency_can_be_diagnosed_by_unscheduled_DNA_synthesis_test_docx/21501495Test -
8
المؤلفون: Tomoo Ogi, Alan R. Lehmann, Yuka Nakazawa, Shunichi Yamashita
المصدر: DNA repair. 9(5):506-516
مصطلحات موضوعية: Recovery of RNA synthesis (RRS), congenital, hereditary, and neonatal diseases and abnormalities, Xeroderma pigmentosum, DNA Repair, DNA repair, Biology, Biochemistry, Cell Line, chemistry.chemical_compound, Automation, medicine, Humans, RNA, Small Interfering, Uracil, skin and connective tissue diseases, Molecular Biology, Xeroderma Pigmentosum, Lymphoblast, Xeroderma pigmentosum (XP), RNA, nutritional and metabolic diseases, Ethynyluracil, Cell Biology, DNA, Transcription-coupled repair (TCR), medicine.disease, Molecular biology, Deoxyuridine, Unscheduled DNA synthesis (UDS), chemistry, Genetic Techniques, Microscopy, Fluorescence, Cockayne syndrome (CS), Nucleotide excision repair (NER), Nucleoside, Nucleotide excision repair
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45605d19b5d2adfbcb5f6975828dcc12Test
http://hdl.handle.net/10069/23067Test -
9مورد إلكتروني
مصطلحات الفهرس: Cockayne syndrome (CS), Nucleotide excision repair (NER), Recovery of RNA synthesis (RRS), Transcription-coupled repair (TCR), Unscheduled DNA synthesis (UDS), Xeroderma pigmentosum (XP), Journal Article, AM