| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicit. Spectrum of Genes. vol 15. issue 4. 2024-04-27. PMID:38674442. |
spectrum of (1) background: cockayne syndrome (cs) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative genes |
2024-04-27 |
2024-04-29 |
Not clear |
| Leon-Phillip Szepanowski, Wasco Wruck, Julia Kapr, Andrea Rossi, Ellen Fritsche, Jean Krutmann, James Adjay. Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism. Cells. vol 13. issue 7. 2024-04-12. PMID:38607030. |
cockayne syndrome (cs) is a rare hereditary autosomal recessive disorder primarily caused by mutations in cockayne syndrome protein a (csa) or b (csb). |
2024-04-12 |
2024-04-14 |
Not clear |
| Leon-Phillip Szepanowski, Wasco Wruck, Julia Kapr, Andrea Rossi, Ellen Fritsche, Jean Krutmann, James Adjay. Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism. Cells. vol 13. issue 7. 2024-04-12. PMID:38607030. |
we generated neurospheres and cerebral organoids utilizing cockayne syndrome b protein (csb)-deficient induced pluripotent stem cells derived from two patients with distinct severity levels of cs and healthy controls. |
2024-04-12 |
2024-04-14 |
Not clear |
| Christopher J Carnie, Aleida C Acampora, Aldo S Bader, Chimeg Erdenebat, Shubo Zhao, Elnatan Bitensky, Diana van den Heuvel, Avital Parnas, Vipul Gupta, Giuseppina D'Alessandro, Matylda Sczaniecka-Clift, Pedro Weickert, Fatih Aygenli, Maximilian J Götz, Jacqueline Cordes, Isabel Esain-Garcia, Larry Melidis, Annelotte P Wondergem, Simon Lam, Maria S Robles, Shankar Balasubramanian, Sheera Adar, Martijn S Luijsterburg, Stephen P Jackson, Julian Stingel. Transcription-coupled repair of DNA-protein cross-links depends on CSA and CSB. Nature cell biology. 2024-04-10. PMID:38600235. |
using genetic screens and a method for the genome-wide mapping of dna-protein adducts, dpc sequencing, we discover that cockayne syndrome (cs) proteins csb and csa provide resistance to dpc-inducing agents by promoting dpc repair in actively transcribed genes. |
2024-04-10 |
2024-04-13 |
Not clear |
| Filip Milosic, Markus Hengstschläger, Selma Osmanagic-Myer. Premature aging in genetic diseases: what conclusions can be drawn for physiological aging. Frontiers in aging. vol 4. 2024-03-14. PMID:38481648. |
in this review we will focus on primary causes of well-investigated premature aging diseases hutchinson-gilford progeria syndrome (hgps), ws, and cockayne syndrome (cs) and for each provide an overview of reported aging hallmarks to elucidate resemblance to physiological aging on the mechanistic level and in the context of characteristic age-related diseases. |
2024-03-14 |
2024-03-16 |
Not clear |
| Khouloud Zayoud, Asma Chikhaoui, Ichraf Kraoua, Anis Tebourbi, Dorra Najjar, Saker Ayari, Ines Safra, Imen Kraiem, Ilhem Turki, Samia Menif, Houda Yacoub-Yousse. Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging. Cells. vol 13. issue 5. 2024-03-13. PMID:38474366. |
cockayne syndrome (cs) is a rare autosomal recessive disorder that affects the dna repair process. |
2024-03-13 |
2024-03-15 |
Not clear |
| Laura R Bramwell, Lorna W Harrie. Senescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes. GeroScience. 2023-09-26. PMID:37751047. |
progeroid syndromes such as hutchinson gilford progeroid syndrome (hgps), werner syndrome (ws) and cockayne syndrome (cs), result in severely reduced lifespans and premature ageing. |
2023-09-26 |
2023-10-07 |
Not clear |
| Clément Crochemore, Claudia Chica, Paolo Garagnani, Giovanna Lattanzi, Steve Horvath, Alain Sarasin, Claudio Franceschi, Maria Giulia Bacalini, Miria Ricchett. Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome. Aging cell. 2023-09-09. PMID:37688320. |
cockayne syndrome (cs) and uv-sensitive syndrome (uvss) are rare genetic disorders caused by mutation of the dna repair and multifunctional csa or csb protein, but only cs patients display a progeroid and neurodegenerative phenotype, providing a unique conceptual and experimental paradigm. |
2023-09-09 |
2023-10-07 |
Not clear |
| Xinyi Wang, Yue Li, Anqi Zhao, Yumeng Wang, Qiaoyu Cao, Chaolan Pan, Ming L. Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome. Molecular genetics & genomic medicine. 2023-08-18. PMID:37592445. |
cockayne syndrome (cs, omim #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. |
2023-08-18 |
2023-09-07 |
Not clear |
| Allyson Hoag, Mingrui Duan, Peng Ma. The Role of TFIIH Complex in Nucleotide Excision Repair. Environmental and molecular mutagenesis. 2023-08-07. PMID:37545038. |
most strikingly are xeroderma pigmentosum (xp), xp combined with cockayne syndrome (cs), and trichothiodystrophy (ttd). |
2023-08-07 |
2023-08-14 |
Not clear |
| Nobutaka Takahashi, Takayasu Mishima, Shinsuke Fujioka, Kohtarou Izumi, Masahiro Ando, Yujiro Higuchi, Hiroshi Takashima, Yoshio Tsubo. Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia. Internal medicine (Tokyo, Japan). vol 62. issue 15. 2023-08-02. PMID:37532514. |
a diagnosis of cockayne syndrome (cs) b type iii was made. |
2023-08-02 |
2023-08-14 |
Not clear |
| Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Ursula Knirsch, Georg M Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R Lehmann, Vincent Laugel, Shehla Mohammed, Peter B Kan. The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatric neurology. vol 141. 2023-02-15. PMID:36791574. |
cockayne syndrome (cs) is a dna repair disorder primarily associated with pathogenic variants in ercc6 and ercc8. |
2023-02-15 |
2023-08-14 |
Not clear |
| Fangkeng Liang, Bijuan Li, Yingying Xu, Junwei Gong, Shaohui Zheng, Yunlong Zhang, Yuming Wan. Identification and characterization of Necdin as a target for the Cockayne syndrome B protein in promoting neuronal differentiation and maintenance. Pharmacological research. 2022-12-31. PMID:36586641. |
cockayne syndrome (cs) is a devastating autosomal recessive genetic disorder, mainly characterized by photosensitivity, growth failure, neurological abnormalities, and premature aging. |
2022-12-31 |
2023-08-14 |
Not clear |
| Chikako Senju, Yuka Nakazawa, Mayuko Shimada, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Og. Aicardi-Goutières syndrome with Frontiers in pediatrics. vol 10. 2022-11-21. PMID:36405817. |
the clinical features of ags overlap with fetal cerebral anomalies caused by congenital infections, such as torch (toxoplasmosis, other, rubella, cytomegalovirus, and herpes), or with those of other genetic disorders showing neonatal microcephaly, including cockayne syndrome (cs) with transcription-coupled dna repair deficiency, and seckel syndrome (ss) showing aberrant cell-cycle checkpoint signaling. |
2022-11-21 |
2023-08-14 |
Not clear |
| Fatima Khalid, Tamara Phan, Mingyue Qiang, Pallab Maity, Theresa Lasser, Sebastian Wiese, Marianna Penzo, Marius Alupei, Donata Orioli, Karin Scharffetter-Kochanek, Sebastian Ibe. TFIIH mutations can impact on translational fidelity of the ribosome. Human molecular genetics. 2022-10-29. PMID:36308430. |
tfiih is a complex essential for transcription of protein-coding genes by rna polymerase ii, dna repair of uv-lesions and transcription of rrna by rna polymerase i. mutations in tfiih cause the cancer prone dna-repair disorder xeroderma pigmentosum (xp) and the developmental and premature aging disorders trichothiodystrophy (ttd) and cockayne syndrome (cs). |
2022-10-29 |
2023-08-14 |
human |
| Elena Paccosi, Adayabalam S Balajee, Luca Proietti-De-Santi. A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer. Frontiers in aging. vol 3. 2022-08-08. PMID:35935726. |
cockayne syndrome (cs) is an autosomal recessive inheritance caused by inactivating mutations in csa and csb genes. |
2022-08-08 |
2023-08-14 |
Not clear |
| Nguyen Thuy Duong, Tran Huu Dinh, Britta S Möhl, Stefan Hintze, Do Hai Quynh, Duong Thi Thu Ha, Ngo Diem Ngoc, Vu Chi Dung, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto, Peter Meink. Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel Aging. vol 14. issue undefined. 2022-06-24. PMID:35748794. |
cockayne syndrome without uv-sensitivity in vietnamese siblings with novel cockayne syndrome (cs) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic |
2022-06-24 |
2023-08-14 |
Not clear |
| Shumaila Zulfiqar, Abubakar Moawia, Syeda Seema Waseem, Zafar Ali, Shafaq Ramzan, Iram Anjum, Shahid Mehmood Baig, Muhammad Tari. Whole exome sequencing identifies a novel variant causing Cockayne syndrome Type I in a consanguineous Pakistani family. The International journal of neuroscience. 2022-06-01. PMID:35645363. |
cockayne syndrome (cs) is a rare neurodegenerative disorder characterized by impaired neurological functions, cachectic dwarfism, microcephaly and photosensitivity. |
2022-06-01 |
2023-08-13 |
Not clear |
| Carla Ferreri, Anna Sansone, Marios G Krokidis, Annalisa Masi, Barbara Pascucci, Mariarosaria D'Errico, Chryssostomos Chatgilialogl. Effects of Oxygen Tension for Membrane Lipidome Remodeling of Cockayne Syndrome Cell Models. Cells. vol 11. issue 8. 2022-04-23. PMID:35455966. |
oxygen is important for lipid metabolism, being involved in both enzymatic transformations and oxidative reactivity, and is particularly influent when genetic diseases impair the repair machinery of the cells, such as described for cockayne syndrome (cs). |
2022-04-23 |
2023-08-13 |
Not clear |
| Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M'rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Yousse. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations. Orphanet journal of rare diseases. vol 17. issue 1. 2022-03-06. PMID:35248096. |
cockayne syndrome (cs) is a rare autosomal recessive disorder caused by mutations in ercc6/csb or ercc8/csa that participate in the transcription-coupled nucleotide excision repair (tc-ner) of uv-induced dna damage. |
2022-03-06 |
2023-08-13 |
Not clear |