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

الوصول الحر: https://ndlsearch.ndl.go.jp/books/R100000039-I12864112Test

Degree: 博士(医学) -- Nagasaki University (長崎大学)

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

الوصول الحر: https://doaj.org/article/74f968cc04b4464687ed046e1824a78bTest

المؤلفون: Laura A. Lindsey-Boltz, Aziz Sancar

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: mutation frequency decline (MFD), nucleotide excision repair (NER), excision repair-sequencing (XR-seq), transcription-coupled repair (TCR), uvrABC excinuclease, UvrD, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2021.668290/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/9c61477203054b4ca15e20e660c0820cTest

المؤلفون: Zhao, Xiaonan, Gazy, Inbal, Hayward, Bruce E., Pintado Sanjuán, Elizabeth, Tassone, Flora, Usdin, Karen, Hwang, Ye Hyun

المساهمون: Universidad de Sevilla. Departamento de Bioquímica Médica y Biología Molecular e Inmunología

مصطلحات موضوعية: Base excision repair (BER), CGG Repeat Expansion Disease, Contraction, DNA instability, Double-strand break repair (DSBR), Expansion, Mismatch repair (MMR), Mosaicism, Non-homologous end-joining (NHEJ), Transcription coupled repair (TCR)

العلاقة: Brain Sciences, 9 (3), 52-1-52-15.; DK057808; http://doi.org/10.3390/brainsci9030052Test; https://idus.us.es/handle//11441/87957Test

الإتاحة: https://doi.org/10.3390/brainsci9030052Test
https://idus.us.es/handle//11441/87957Test

المؤلفون: Xiaonan Zhao, Inbal Gazy, Bruce Hayward, Elizabeth Pintado, Ye Hyun Hwang, Flora Tassone, Karen Usdin

المصدر: Brain Sciences; Volume 9; Issue 3; Pages: 52

مصطلحات موضوعية: CGG Repeat Expansion Disease, DNA instability, expansion, contraction, mismatch repair (MMR), base excision repair (BER), transcription coupled repair (TCR), double-strand break repair (DSBR), Non-homologous end-joining (NHEJ), mosaicism

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/brainsci9030052Test

الإتاحة: https://doi.org/10.3390/brainsci9030052Test

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

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)

العلاقة: https://figshare.com/articles/dataset/Table1_Aicardi_Gouti_res_syndrome_with_SAMHD1_deficiency_can_be_diagnosed_by_unscheduled_DNA_synthesis_test_docx/21501495Test

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

المؤلفون: Aziz Sancar, Laura A. Lindsey-Boltz

المصدر: Frontiers in Molecular Biosciences
Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: QH301-705.5, Auxotrophy, Mutant, Mutagenesis, UvrD, RNA, Review, uvrABC excinuclease, Biochemistry, Genetics and Molecular Biology (miscellaneous), Biochemistry, Cell biology, chemistry.chemical_compound, transcription-coupled repair (TCR), chemistry, mutation frequency decline (MFD), nucleotide excision repair (NER), Transcription (biology), RNA polymerase, Molecular Biosciences, Biology (General), Molecular Biology, DNA, Nucleotide excision repair, excision repair-sequencing (XR-seq)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7df6473699409fc7466ec6dc8de73cbTest
http://europepmc.org/articles/PMC8174841Test

المؤلفون: Xiao-Nan Zhao, Bruce E. Hayward, Karen Usdin, Elizabeth Pintado, Inbal Gazy, Ye Hyun Hwang, Flora Tassone

المساهمون: Universidad de Sevilla. Departamento de Bioquímica Médica y Biología Molecular e Inmunología

المصدر: Brain Sciences
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Brain sciences, vol 9, iss 3
Brain Sciences, Vol 9, Iss 3, p 52 (2019)

مصطلحات موضوعية: Expansion, Fragile x, Disease, Dna instability, Exon, Double-strand break repair (DSBR), 0302 clinical medicine, expansion, 2.1 Biological and endogenous factors, Psychology, Genetics, Mismatch repair (MMR), 0303 health sciences, Contraction, Mosaicism, General Neuroscience, Non-homologous end-joining (NHEJ), base excision repair (BER), CGG Repeat Expansion Disease, Base excision repair (BER), mismatch repair, Neurological, Perspective, double-strand break repair, Cognitive Sciences, double-strand break repair (DSBR), Intellectual and Developmental Disabilities (IDD), Non-homologous end-joining, Biology, DNA instability, transcription coupled repair (TCR), base excision repair, lcsh:RC321-571, 03 medical and health sciences, Rare Diseases, transcription coupled repair, Allele, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, Transcription coupled repair (TCR), mismatch repair (MMR), Neurosciences, contraction, FMR1, Brain Disorders, Fmr1 gene, mosaicism, Fragile X Syndrome, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b528772e51878d65375bd02df9663647Test
http://europepmc.org/articles/PMC6468611Test

المؤلفون: Gaillard, Hélène, Wellinger, Ralf Erik, Aguilera, Andrés

مصطلحات موضوعية: DNA repair, Transcription-Coupled Repair (TCR), THO mutants

وصف الملف: 6478775 bytes; application/pdf

العلاقة: Nucleic Acids Res. 35(12): 3893–3906 (2007).; http://hdl.handle.net/10261/4090Test

الإتاحة: https://doi.org/10.1093/nar/gkm373Test
http://hdl.handle.net/10261/4090Test