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■ Abbreviation / Long Form : CS / Cockayne syndrome

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Total Number of Papers: 411
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Abbreviation:   CS  (>> Co-occurring Abbreviation)
Long Form:   Cockayne syndrome
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders. FA, ICLR, NER, RRS, UDS, UV, XP, XPCSCD
2019 Renal disease in Cockayne syndrome. ACE, BP, GFR
2019 Rescue of premature aging defects in Cockayne syndrome stem cells by CRISPR/Cas9-mediated gene correction. GC-iPSCs, iPSCs, MSCs, NSCs, UV
2019 TFIIH: A multi-subunit complex at the cross-roads of transcription and DNA repair. NER, TFIIH, TTD, XP
2019 [Cockayne Syndrome]. XP/CS
2018 Actual state of knowledge in the field of diseases related with defective nucleotide excision repair. CPDs, NER, TTD, XP
2018 Cochlear implantation in pediatric patients with Cockayne Syndrome. CI, SNHL
2018 ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. ---
2018 Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome. ---
10  2018 First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene. ---
11  2018 Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. ---
12  2018 Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state. CSB, PGBD3, SSOs, UVSS
13  2018 HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome. CSB, HDAC6, UV
14  2018 Influence of chromatin remodeling in the removal of UVC-induced damage in TCR proficient and deficient Chinese hamster cells. GGR, TCR, TSA
15  2018 Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. ROS
16  2018 Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review. ERCC6, ERCC8
17  2018 Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins. ---
18  2018 Solar UV damage to cellular DNA: from mechanisms to biological effects. GG-NER, TC-NER, TTD, UV, UVsS, XP
19  2018 Temporal Bone Histopathology in Cockayne Syndrome. ---
20  2018 TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A. CRLCSA, TC-NER
21  2018 Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses. ---
22  2017 A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. ---
23  2017 Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports. ---
24  2017 Cockayne syndrome: Clinical features, model systems and pathways. TC-NER, XP
25  2017 Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation. ---
26  2017 PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME. SD-OCT
27  2017 Transcription coupled repair deficiency protects against human mutagenesis and carcinogenesis: Personal Reflections on the 50th anniversary of the discovery of xeroderma pigmentosum. GGR, TCR, XP
28  2017 Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. ERCC6
29  2017 [The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings]. ---
30  2016 A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA. TC-NER, UVSS, UVSSA
31  2016 Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): A survey study. ---
32  2016 Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. CSB, ERCC6, iPSCs
33  2016 Cockayne syndrome: a diffusion tensor imaging and volumetric study. ADC, DTI, FA, WM
34  2016 Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome. DSBs, ICLs
35  2016 Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome. ERCC2, NER, XP
36  2016 Human DNA repair disorders in dermatology: A historical perspective, current concepts and new insight. CPDs, NER, TLS, XP
37  2016 Increased oxidative phosphorylation in response to acute and chronic DNA damage. FAO, OXPHOS
38  2016 Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. BDNF, CSB, SYT9
39  2016 Sources and consequences of oxidative damage from mitochondria and neurotransmitter signaling. ROS, UV, XP
40  2016 The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. CSB, TC-NER, UBD
41  2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. CoSyNH
42  2016 Transcription-coupled homologous recombination after oxidative damage. DSB, HR, RNA POLII
43  2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. NER, NGS, XP
44  2016 Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. GGR, NER, TCR, XP
45  2016 XPC deficiency is related to APE1 and OGG1 expression and function. BER, NER, XP
46  2016 [Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome]. ---
47  2015 A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. NER, XP
48  2015 Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion. ---
49  2015 Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. CSB, TCR
50  2015 Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. DSBs
51  2015 COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING. ---
52  2015 Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS. COFS, XP, XP/CS
53  2015 CSB interacts with SNM1A and promotes DNA interstrand crosslink processing. ---
54  2015 Defective Hfp-dependent transcriptional repression of dMYC is fundamental to tissue overgrowth in Drosophila XPB models. NER, TTD, XP
55  2015 Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms. IIS, NER, TTD, XP
56  2015 Metronidazole Toxicity in Cockayne Syndrome: A Case Series. ---
57  2015 Molecular regulation of UV-induced DNA repair. TTD, UV, XP
58  2015 Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. CT
59  2015 Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders. COFS, NER, TTD, UVSS, XP
60  2015 Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. FA, XP
61  2015 Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome. CV, NCS
62  2015 Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome. EGF, WT, XP-G
63  2015 Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome. ---
64  2015 XPB: An unconventional SF2 DNA helicase. dsDNA, NER, SF2, TTD, XP, XP/CS
65  2015 [High sensitivity to cell death and low repair activity of DNA damages after exposure to oxidative stress in Cockayne syndrome (CS) patient-derived cells]. ---
66  2014 A C. elegans homolog of the Cockayne syndrome complementation group A gene. ---
67  2014 A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome. ---
68  2014 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. ---
69  2014 Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency. COFS, NER, XP
70  2014 Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth. CSA
71  2014 Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA. T-T, TC-NER
72  2014 Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. CSB
73  2014 Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing. ---
74  2014 Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. 6-SM, AchNs, PPN
75  2014 Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage. CSA, CSB, ROS, TCR, UVSSA
76  2014 Molecular mechanism of global genome nucleotide excision repair. GG-NER, NER, TC-NER, TTD, XP
77  2014 Regulation of active genome integrity and expression by Rad26p. CSB
78  2014 The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis. MAP2
79  2014 Yeast RAD2, a homolog of human XPG, plays a key role in the regulation of the cell cycle and actin dynamics. XP
80  2014 [Clinical examination of renal function in Cockayne syndrome]. ---
81  2013 Accumulation of phosphorylated TDP-43 in the CNS of a patient with Cockayne syndrome. TAR
82  2013 Arresting transcription and sentencing the cell: the consequences of blocked transcription. RNAPII, TC-NER
83  2013 Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease. TC-NER
84  2013 Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription. XP
85  2013 Cockayne syndrome b maintains neural precursor function. CSB
86  2013 Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. CSB, IGF-1, NER, TC
87  2013 Cockayne syndrome pathogenesis: lessons from mouse models. NER
88  2013 Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. COFS, CSA, CSB
89  2013 Disorders of nucleotide excision repair. COFS, TTD, XP
90  2013 From laboratory tests to functional characterisation of Cockayne syndrome. ---
91  2013 Hereditary Disorders with Defective Repair of UV-Induced DNA Damage. NER, TTD, UV, XP
92  2013 Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. ---
93  2013 Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria. ---
94  2013 Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. FA, XP, XP-F
95  2013 Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations. BER
96  2013 Multiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenance. CSB
97  2013 Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. NER, UV, XP
98  2013 Repair of oxidatively generated DNA damage in Cockayne syndrome. BER
99  2013 Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. XP
100  2013 The role of CSA and CSB protein in the oxidative stress response. ---