1,243 results match your criteria Cockayne Syndrome


[Cockayne Syndrome].

Brain Nerve 2019 Apr;71(4):390-393

Department of Dermatology, Osaka Medical College.

Cockayne syndrome (CS) is an autosomal recessive disorder characterized by severe photosensitive genodermatosis that is associated with premature aging caused by defects in the UV-induced DNA damage repair system, particularly the transcription-coupled nucleotide excision repair. The clinical features of CS include photosensitivity, a characteristic senile face, significant developmental abnormalities, such as short stature, underweight, and microcephaly, progressive cachexia, severe visual impairment, and sensorineural deafness. CS is clinically classified into type I (classical type), type II (congenital or severe type) and type III (late-onset or adult-onset type). Read More

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http://dx.doi.org/10.11477/mf.1416201282DOI Listing

Heterogeneity and overlaps in nucleotide excision repair (NER) disorders.

Clin Genet 2019 Mar 28. Epub 2019 Mar 28.

Istituto di Genetica Molecolare (IGM), Consiglio Nazionale delle Ricerche, Pavia, Italy.

Nucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by the ultraviolet (UV) component of solar radiation. Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive syndrome to the cancer-prone xeroderma pigmentosum and the neurodevelopmental/progeroid conditions trichothiodystrophy, Cockayne syndrome and cerebro-oculo-facio-skeletal-syndrome. A complicated genetic scenario underlines these disorders with the same gene linked to different clinical entities as well as different genes associated with the same disease. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13545
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http://dx.doi.org/10.1111/cge.13545DOI Listing
March 2019
1 Read

Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.

Nat Commun 2019 03 20;10(1):1288. Epub 2019 Mar 20.

Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch Cedex, C.U. Strasbourg, France.

The TFIIH subunit XPB is involved in combined Xeroderma Pigmentosum and Cockayne syndrome (XP-B/CS). Our analyses reveal that XPB interacts functionally with KAT2A, a histone acetyltransferase (HAT) that belongs to the hSAGA and hATAC complexes. XPB interacts with KAT2A-containing complexes on chromatin and an XP-B/CS mutation specifically elicits KAT2A-mediated large-scale chromatin decondensation. Read More

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http://www.nature.com/articles/s41467-019-09270-2
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http://dx.doi.org/10.1038/s41467-019-09270-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426930PMC
March 2019
5 Reads

Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.

Clin Chim Acta 2019 Mar 12;494:64-70. Epub 2019 Mar 12.

Department of Medical Genetics, College of Basic Medicine, Army Medical University (Third Military Medical University), 30#, Gaotanyan St., Shapingba District, Chongqing 400038, PR China. Electronic address:

Background: A consanguineous Chinese family was affected by an apparently novel autosomal recessive disorder characterized by cerebellar ataxia, cutaneous photosensitivity, and mild intellectual disability.

Methods: The family was evaluated by homozygosity mapping, haplotype analysis, whole exome sequencing, and candidate gene mutation screening to identify the disease-associated gene and mutation. Bioinformatics methods were used to predict the functional significance of the mutated gene product. Read More

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http://dx.doi.org/10.1016/j.cca.2019.03.1609DOI Listing
March 2019
2 Reads
2.824 Impact Factor

Molecular basis of chromatin remodeling by Rhp26, a yeast CSB ortholog.

Proc Natl Acad Sci U S A 2019 Mar 13;116(13):6120-6129. Epub 2019 Mar 13.

Division of Pharmaceutical Sciences, Skaggs School of Pharmacy & Pharmaceutical Sciences, University of California, San Diego, La Jolla, CA 92093;

CSB/ERCC6 belongs to an orphan subfamily of SWI2/SNF2-related chromatin remodelers and plays crucial roles in gene expression, DNA damage repair, and the maintenance of genome integrity. The molecular basis of chromatin remodeling by Cockayne syndrome B protein (CSB) is not well understood. Here we investigate the molecular mechanism of chromatin remodeling by Rhp26, a CSB ortholog. Read More

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http://dx.doi.org/10.1073/pnas.1818163116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442633PMC

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Front Genet 2019 14;10:111. Epub 2019 Feb 14.

Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an example of accelerated photo-aging. It is a genetically and clinically heterogeneous disease. Read More

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http://dx.doi.org/10.3389/fgene.2019.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383105PMC
February 2019
3 Reads

Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports.

Doc Ophthalmol 2019 Feb 28. Epub 2019 Feb 28.

Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic, Sabino de Arana St. (Casa Maternidad, 2nd floor), 08028, Barcelona, Spain.

Purpose: Cockayne syndrome is a rare autosomal recessive disease, also known as a progeria disorder, causing dwarfism, senile appearance and multiple systemic affections. Ophthalmic abnormalities are frequent, for example, in the forms of pigmentary retinopathy with low visual acuity. We present two genetic-confirmed cases with a detailed electrophysiological exploration of their retinal findings. Read More

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http://dx.doi.org/10.1007/s10633-019-09681-yDOI Listing
February 2019
1 Read

TFIIH: A multi-subunit complex at the cross-roads of transcription and DNA repair.

Adv Protein Chem Struct Biol 2019 10;115:21-67. Epub 2019 Feb 10.

Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch Cedex, C.U. Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U1258, Illkirch, France; Université de Strasbourg, Illkirch, France. Electronic address:

Transcription factor IIH (TFIIH) is a multiprotein complex involved in both eukaryotic transcription and DNA repair, revealing a tight connection between these two processes. Composed of 10 subunits, it can be resolved into a 7-subunits core complex with the XPB translocase and the XPD helicase, and the 3-subunits kinase complex CAK, which also exists as a free complex with a distinct function. Initially identified as basal transcription factor, TFIIH also participates in transcription regulation and plays a key role in nucleotide excision repair (NER) for opening DNA at damaged sites, lesion verification and recruitment of additional repair factors. Read More

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http://dx.doi.org/10.1016/bs.apcsb.2019.01.003DOI Listing
February 2019
3.036 Impact Factor

Structural basis of ubiquitin recognition by the winged-helix domain of Cockayne syndrome group B protein.

Nucleic Acids Res 2019 Apr;47(7):3784-3794

Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-0032, Japan.

Cockayne syndrome group B (CSB, also known as ERCC6) protein is involved in many DNA repair processes and essential for transcription-coupled repair (TCR). The central region of CSB has the helicase motif, whereas the C-terminal region contains important regulatory elements for repair of UV- and oxidative stress-induced damages and double-strand breaks (DSBs). A previous study suggested that a small part (∼30 residues) within this region was responsible for binding to ubiquitin (Ub). Read More

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http://dx.doi.org/10.1093/nar/gkz081DOI Listing
April 2019
2 Reads

FACT subunit Spt16 controls UVSSA recruitment to lesion-stalled RNA Pol II and stimulates TC-NER.

Nucleic Acids Res 2019 Feb 4. Epub 2019 Feb 4.

Department of Molecular Genetics, Oncode Institute, Erasmus MC, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.

Transcription-coupled nucleotide excision repair (TC-NER) is a dedicated DNA repair pathway that removes transcription-blocking DNA lesions (TBLs). TC-NER is initiated by the recognition of lesion-stalled RNA Polymerase II by the joint action of the TC-NER factors Cockayne Syndrome protein A (CSA), Cockayne Syndrome protein B (CSB) and UV-Stimulated Scaffold Protein A (UVSSA). However, the exact recruitment mechanism of these factors toward TBLs remains elusive. Read More

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http://dx.doi.org/10.1093/nar/gkz055DOI Listing
February 2019
2 Reads

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.

Genes (Basel) 2019 Jan 17;10(1). Epub 2019 Jan 17.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08028 Barcelona, Spain.

XPF endonuclease is one of the most important DNA repair proteins. Encoded by /, XPF provides the enzymatic activity of XPF-ERCC1 heterodimer, an endonuclease that incises at the 5' side of various DNA lesions. XPF is essential for nucleotide excision repair (NER) and interstrand crosslink repair (ICLR). Read More

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http://www.mdpi.com/2073-4425/10/1/60
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http://dx.doi.org/10.3390/genes10010060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357085PMC
January 2019
22 Reads

Renal disease in Cockayne syndrome.

Eur J Med Genet 2019 Jan 7. Epub 2019 Jan 7.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

Background: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth failure and sensorial impairment. Renal complications have been reported but remain underinvestigated. The objective of this study was to perform a review of renal disease in a cohort of CS patients. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.002DOI Listing
January 2019
5 Reads

CSB-Dependent Cyclin-Dependent Kinase 9 Degradation and RNA Polymerase II Phosphorylation during Transcription-Coupled Repair.

Mol Cell Biol 2019 Mar 1;39(6). Epub 2019 Mar 1.

Institut NeuroMyoGène (INMG), CNRS UMR 5310, INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Villeurbanne, France

DNA lesions block cellular processes such as transcription, inducing apoptosis, tissue failures, and premature aging. To counteract the deleterious effects of DNA damage, cells are equipped with various DNA repair pathways. Transcription-coupled repair specifically removes helix-distorting DNA adducts in a coordinated multistep process. Read More

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http://dx.doi.org/10.1128/MCB.00225-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399667PMC

Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins.

Sci Rep 2018 Nov 30;8(1):17490. Epub 2018 Nov 30.

Laboratory of Molecular Gerontology, National Institute on Aging, Intramural Research Program, National Institutes of Health, 251 Bayview Blvd., Ste. 100, Baltimore, MD, 21224, USA.

Cockayne syndrome (CS) is an inherited disorder that involves photosensitivity, developmental defects, progressive degeneration and characteristics of premature aging. Evidence indicates primarily nuclear roles for the major CS proteins, CSA and CSB, specifically in DNA repair and RNA transcription. We reveal herein a complex regulation of CSB targeting that involves three major consensus signals: NLS1 (aa467-481), which directs nuclear and nucleolar localization in cooperation with NoLS1 (aa302-341), and NLS2 (aa1038-1055), which seemingly optimizes nuclear enrichment. Read More

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http://dx.doi.org/10.1038/s41598-018-36027-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269539PMC
November 2018
3 Reads

The Cockayne syndrome protein B is involved in the repair of 5-AZA-2'-deoxycytidine-induced DNA lesions.

Oncotarget 2018 Oct 12;9(80):35069-35084. Epub 2018 Oct 12.

Department of Cell Biology, Faculty of Biology, University of Seville, 41012 Seville, Spain.

The Cockayne Syndrome Protein B (CSB) plays an essential role in Transcription-Coupled Nucleotide Excision Repair (TC-NER) by recruiting repair proteins once transcription is blocked with a DNA lesion. In fact, CSB-deficient cells are unable to recover from transcription-blocking DNA lesions. 5-Aza-2'-deoxycytidine (5-azadC) is a nucleoside analogue that covalently traps DNA methyltransferases (DNMTs) onto DNA. Read More

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http://dx.doi.org/10.18632/oncotarget.26189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205548PMC
October 2018
18 Reads

Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.

J Pak Med Assoc 2018 Oct;68(10):1531-1534

Dow Medical College, Dow University of Health Sciences, Karachi.

We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. She was globally delayed, deaf, dumb and photophobic. Read More

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October 2018
21 Reads

ROS-induced R loops trigger a transcription-coupled but BRCA1/2-independent homologous recombination pathway through CSB.

Nat Commun 2018 10 8;9(1):4115. Epub 2018 Oct 8.

Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, 450 Technology Drive, 523 Bridgeside Point II, Pittsburgh, PA, 15219, USA.

Actively transcribed regions of the genome are protected by transcription-coupled DNA repair mechanisms, including transcription-coupled homologous recombination (TC-HR). Here we used reactive oxygen species (ROS) to induce and characterize TC-HR at a transcribed locus in human cells. As canonical HR, TC-HR requires RAD51. Read More

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http://www.nature.com/articles/s41467-018-06586-3
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http://dx.doi.org/10.1038/s41467-018-06586-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175878PMC
October 2018
10 Reads
10.742 Impact Factor

Cockayne Syndrome Misdiagnosed as Cerebral Palsy.

Iran J Child Neurol 2018 ;12(4):162-168

Department of Orthopedics, Tehran University of Medical Sciences. Tehran, Iran.

A 7-yr-old patient was referred to pediatric orthopedic clinic of Imam hospital (2016) with the diagnosis of cerebral palsy (CP). His parents were concerned about some inconsistency of his disease progression. After initial evaluations, the diagnosis of CP was incorrect. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160622PMC
January 2018
2 Reads

Poly(ADP-ribose) polymerase 1 (PARP1) promotes oxidative stress-induced association of Cockayne syndrome group B protein with chromatin.

J Biol Chem 2018 11 28;293(46):17863-17874. Epub 2018 Sep 28.

From the Department of Internal Medicine, Division of Molecular Medicine, Program in Cancer Genetics, Epigenetics, and Genomics, University of New Mexico Comprehensive Cancer Center, Albuquerque, New Mexico 87131 and

Cockayne syndrome protein B (CSB) is an ATP-dependent chromatin remodeler that relieves oxidative stress by regulating DNA repair and transcription. CSB is proposed to participate in base-excision repair (BER), the primary pathway for repairing oxidative DNA damage, but exactly how CSB participates in this process is unknown. It is also unclear whether CSB contributes to other repair pathways during oxidative stress. Read More

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http://dx.doi.org/10.1074/jbc.RA118.004548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240881PMC
November 2018
16 Reads

Cockayne syndrome in siblings.

Neurol India 2018 Sep-Oct;66(5):1488-1490

Department of Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.

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http://dx.doi.org/10.4103/0028-3886.241349DOI Listing
September 2018
2 Reads
1.084 Impact Factor

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

BMC Med Genet 2018 Sep 10;19(1):161. Epub 2018 Sep 10.

Medical Genetics Unit, Faculty of medicine, Saint Joseph University (USJ), Damascus street, B.P. 17-5208, Mar Mikhaël, Beirut, 1104 2020, Lebanon.

Background: Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment, dwarfism, microcephaly and photosensitivity. CS is caused by mutations in ERCC6 (CSB) or ERCC8 (CSA) genes.

Methods: Three patients with CS were referred to the Medical Genetics Unit of Saint Joseph University. Read More

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http://dx.doi.org/10.1186/s12881-018-0677-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131905PMC
September 2018
1 Read

What happens at the lesion does not stay at the lesion: Transcription-coupled nucleotide excision repair and the effects of DNA damage on transcription in cis and trans.

DNA Repair (Amst) 2018 11 23;71:56-68. Epub 2018 Aug 23.

Erasmus MC, University Medical Center Rotterdam, Department of Molecular Genetics, Oncode Institute, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands. Electronic address:

Unperturbed transcription of eukaryotic genes by RNA polymerase II (Pol II) is crucial for proper cell function and tissue homeostasis. However, the DNA template of Pol II is continuously challenged by damaging agents that can result in transcription impediment. Stalling of Pol II on transcription-blocking lesions triggers a highly orchestrated cellular response to cope with these cytotoxic lesions. Read More

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http://dx.doi.org/10.1016/j.dnarep.2018.08.007DOI Listing
November 2018
10 Reads

Structural basis of DNA lesion recognition for eukaryotic transcription-coupled nucleotide excision repair.

DNA Repair (Amst) 2018 11 23;71:43-55. Epub 2018 Aug 23.

Division of Pharmaceutical Sciences, Skaggs School of Pharmacy & Pharmaceutical Sciences, University of California San Diego, La Jolla, CA, 92093, United States; Department of Cellular & Molecular Medicine, University of California San Diego, La Jolla, CA, 92093, United States. Electronic address:

Eukaryotic transcription-coupled nucleotide excision repair (TC-NER) is a pathway that removes DNA lesions capable of blocking RNA polymerase II (Pol II) transcription from the template strand. This process is initiated by lesion-arrested Pol II and the recruitment of Cockayne Syndrome B protein (CSB). In this review, we will focus on the lesion recognition steps of eukaryotic TC-NER and summarize the recent research progress toward understanding the structural basis of Pol II-mediated lesion recognition and Pol II-CSB interactions. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15687864183017
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http://dx.doi.org/10.1016/j.dnarep.2018.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340766PMC
November 2018
6 Reads

Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Nucleic Acids Res 2018 Oct;46(18):9563-9577

Department of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.

The structure-specific ERCC1-XPF endonuclease plays a key role in DNA damage excision by nucleotide excision repair (NER) and interstrand crosslink repair. Mutations in this complex can either cause xeroderma pigmentosum (XP) or XP combined with Cockayne syndrome (XPCS-complex) or Fanconi anemia. However, most patients carry compound heterozygous mutations, which confounds the dissection of the phenotypic consequences for each of the identified XPF alleles. Read More

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http://dx.doi.org/10.1093/nar/gky774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182131PMC
October 2018
7 Reads

HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome.

Sci Transl Med 2018 Aug;10(456)

IUF-Leibniz Research Institute for Environmental Medicine, 40225 Düsseldorf, Germany.

Cockayne syndrome (CS), a hereditary form of premature aging predominantly caused by mutations in the gene, affects multiple organs including skin where it manifests with hypersensitivity toward ultraviolet (UV) radiation and loss of subcutaneous fat. There is no curative treatment for CS, and its pathogenesis is only partially understood. Originally considered for its role in DNA repair, Cockayne syndrome group B (CSB) protein most likely serves additional functions. Read More

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http://dx.doi.org/10.1126/scitranslmed.aam7510DOI Listing
August 2018
3 Reads

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.

Medicine (Baltimore) 2018 Aug;97(33):e11636

Key laboratory of Resource Biology and Biotechnology in Western China, College of Life Sciences, Northwest University, China.

Introduction: Cockayne syndrome (CS) is a rare multisystemic autosomal recessive disease. The primary manifestations of which are developmental delay, neurological impairment, abnormal skin sensitivity to sunlight and unique facial appearance as sunken eyes, large ears, and thin large nose. The disorders of the nucleotide excision repair system significantly are caused by mutations of Excision repair cross-complementing group 6 (ERCC6) and Excision repair cross-complementing group 8 (ERCC8) genes, and the ERCC6 gene mutations are present in approximately 65% of cases. Read More

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http://dx.doi.org/10.1097/MD.0000000000011636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112894PMC
August 2018
14 Reads

Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke.

Pediatr Neurol 2018 Sep 18;86:73-74. Epub 2018 May 18.

Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.05.002DOI Listing
September 2018
1 Read

Solar UV damage to cellular DNA: from mechanisms to biological effects.

Photochem Photobiol Sci 2018 Dec;17(12):1842-1852

Leiden University Medical Center, Leiden, The Netherlands.

Solar ultraviolet (UV) radiation generates bulky photodimers at di-pyrimidine sites that pose stress to cells and organisms by hindering DNA replication and transcription. In addition, solar UV also induces various types of oxidative DNA lesions and single strand DNA breaks. Relieving toxicity and maintenance of genomic integrity are of clinical importance in relation to erythema/edema and diseases such as cancer, neurodegeneration and premature ageing, respectively. Read More

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http://dx.doi.org/10.1039/c8pp00182kDOI Listing
December 2018
2 Reads

Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome.

Ann Hum Genet 2018 Sep 24;82(5):304-308. Epub 2018 Jul 24.

Noor Genetics Lab, Ahvaz, Iran.

Cockayne syndrome (CS) is one the rare DNA-repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Read More

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http://dx.doi.org/10.1111/ahg.12255DOI Listing
September 2018
5 Reads

Mechanistic insights into the regulation of transcription and transcription-coupled DNA repair by Cockayne syndrome protein B.

Nucleic Acids Res 2018 Sep;46(15):7471-7479

Department of Internal Medicine, Division of Molecular Medicine, Program in Cancer Genetics, Epigenetics and Genomics, University of New Mexico Comprehensive Cancer Center, Albuquerque, NM 87131, USA.

Cockayne syndrome protein B (CSB) is a member of the SNF2/SWI2 ATPase family and is essential for transcription-coupled nucleotide excision DNA repair (TC-NER). CSB also plays critical roles in transcription regulation. CSB can hydrolyze ATP in a DNA-dependent manner, alter protein-DNA contacts and anneal DNA strands. Read More

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http://dx.doi.org/10.1093/nar/gky660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125617PMC
September 2018
5 Reads

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence.

J Invest Dermatol 2019 Jan 25;139(1):38-50. Epub 2018 Sep 25.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy. Electronic address:

Defects in Cockayne syndrome type A (CSA), a gene involved in nucleotide excision repair, cause an autosomal recessive syndrome characterized by growth failure, progressive neurological dysfunction, premature aging, and skin photosensitivity and atrophy. Beyond its role in DNA repair, the CSA protein has additional functions in transcription and oxidative stress response, which are not yet fully elucidated. Here, we investigated the role of CSA protein in primary human keratinocyte senescence. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183232
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http://dx.doi.org/10.1016/j.jid.2018.06.181DOI Listing
January 2019
17 Reads

Efficient UV repair requires disengagement of the CSB winged helix domain from the CSB ATPase domain.

DNA Repair (Amst) 2018 08 21;68:58-67. Epub 2018 Jun 21.

Department of Biology, McMaster University, Hamilton, Ontario, L8S 4K1, Canada. Electronic address:

The ATP-dependent chromatin remodeler CSB is implicated in a variety of different DNA repair mechanisms, including transcription-coupled nucleotide excision repair (TC-NER), base excision repair and DNA double strand break (DSB) repair. However, how CSB is regulated in these various repair processes is not well understood. Here we report that the first 30 amino acids of CSB along with two phosphorylation events on S10 and S158, previously reported to be required for CSB function in homologous recombination (HR)-mediated repair, are dispensable for repairing UV-induced DNA damage, suggesting that the regulation of CSB in these two types of repair are carried out by distinct mechanisms. Read More

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http://dx.doi.org/10.1016/j.dnarep.2018.06.004DOI Listing

The transcription-coupled DNA repair-initiating protein CSB promotes XRCC1 recruitment to oxidative DNA damage.

Nucleic Acids Res 2018 Sep;46(15):7747-7756

Department of Molecular Genetics, Oncode Institute, Cancer Genomics Netherlands, Erasmus MC, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.

Transcription-coupled nucleotide excision repair factor Cockayne syndrome protein B (CSB) was suggested to function in the repair of oxidative DNA damage. However thus far, no clear role for CSB in base excision repair (BER), the dedicated pathway to remove abundant oxidative DNA damage, could be established. Using live cell imaging with a laser-assisted procedure to locally induce 8-oxo-7,8-dihydroguanine (8-oxoG) lesions, we previously showed that CSB is recruited to these lesions in a transcription-dependent but NER-independent fashion. Read More

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http://dx.doi.org/10.1093/nar/gky579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125634PMC
September 2018
2 Reads

Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.

Mech Ageing Dev 2018 10 23;175:7-16. Epub 2018 Jun 23.

Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. Electronic address:

Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging. Most of the cases are due to mutations in the ERCC6 gene, which encodes the protein CSB. CSB is involved in several functions including DNA repair and transcription. Read More

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http://dx.doi.org/10.1016/j.mad.2018.06.001DOI Listing
October 2018
9 Reads
3.397 Impact Factor

MPK-1/ERK pathway regulates DNA damage response during development through DAF-16/FOXO.

Nucleic Acids Res 2018 Jul;46(12):6129-6139

Institute for Genome Stability in Ageing and Disease, Medical Faculty, University of Cologne, Joseph-Stelzmann-Strasse 26, 50931 Cologne, Germany.

Ultraviolet (UV) induces distorting lesions to the DNA that can lead to stalling of the RNA polymerase II (RNAP II) and that are removed by transcription-coupled nucleotide excision repair (TC-NER). In humans, mutations in the TC-NER genes CSA and CSB lead to severe postnatal developmental defects in Cockayne syndrome patients. In Caenorhabditis elegans, mutations in the TC-NER genes csa-1 and csb-1, lead to developmental growth arrest upon UV treatment. Read More

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https://academic.oup.com/nar/article/46/12/6129/5000020
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http://dx.doi.org/10.1093/nar/gky404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159517PMC
July 2018
6 Reads

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Mech Ageing Dev 2018 07 9;173:80-83. Epub 2018 May 9.

Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.

Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. Read More

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http://dx.doi.org/10.1016/j.mad.2018.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217841PMC
July 2018
9 Reads

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.

Clin Genet 2018 Oct 11;94(3-4):386-388. Epub 2018 May 11.

Istituto di Genetica Molecolare (IGM), Consiglio Nazionale delle Ricerche, Pavia, Italy.

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http://doi.wiley.com/10.1111/cge.13364
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http://dx.doi.org/10.1111/cge.13364DOI Listing
October 2018
2 Reads

Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome.

Cell Rep 2018 May;23(6):1612-1619

Clinic of Dermatology and Allergic Diseases, University Medical Center, Albert-Einstein Allee 23, 89081 Ulm, Germany. Electronic address:

Retarded growth and neurodegeneration are hallmarks of the premature aging disease Cockayne syndrome (CS). Cockayne syndrome proteins take part in the key step of ribosomal biogenesis, transcription of RNA polymerase I. Here, we identify a mechanism originating from a disturbed RNA polymerase I transcription that impacts translational fidelity of the ribosomes and consequently produces misfolded proteins. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183058
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http://dx.doi.org/10.1016/j.celrep.2018.04.041DOI Listing
May 2018
4 Reads

Cardiac-Related Spinal Cord Tissue Motion at the Foramen Magnum is Increased in Patients with Type I Chiari Malformation and Decreases Postdecompression Surgery.

World Neurosurg 2018 Aug 4;116:e298-e307. Epub 2018 May 4.

Department of Biological Engineering, University of Idaho, Moscow, Idaho, USA. Electronic address:

Objective: Type 1 Chiari malformation (CM-I) is a craniospinal disorder historically defined by cerebellar tonsillar position greater than 3-5 mm below the foramen magnum (FM). This definition has come under question because quantitative measurements of cerebellar herniation do not always correspond with symptom severity. Researchers have proposed several additional radiographic diagnostic criteria based on dynamic motion of fluids and/or tissues. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183091
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http://dx.doi.org/10.1016/j.wneu.2018.04.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063776PMC
August 2018
25 Reads

The Cellular Response to Transcription-Blocking DNA Damage.

Trends Biochem Sci 2018 05;43(5):327-341

Mechanisms of Transcription Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK. Electronic address:

In response to transcription-blocking DNA lesions such as those generated by UV irradiation, cells activate a multipronged DNA damage response. This response encompasses repair of the lesions that stall RNA polymerase (RNAP) but also a poorly understood, genome-wide shutdown of transcription, even of genes that are not damaged. Over the past few years, a number of new results have shed light on this intriguing DNA damage response at the structural, biochemical, cell biological, and systems biology level. Read More

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http://dx.doi.org/10.1016/j.tibs.2018.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5929563PMC
May 2018
9 Reads

Coupling between nucleotide excision repair and gene expression.

RNA Biol 2018 17;15(7):845-848. Epub 2018 May 17.

a Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE-UBA-CONICET) and Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales , Universidad de Buenos Aires, Ciudad Universitaria , Buenos Aires , Argentina.

Gene expression and DNA repair are fundamental processes for life. During the last decade, accumulating experimental evidence point towards different modes of coupling between these processes. Here we discuss the molecular mechanisms by which RNAPII-dependent transcription affects repair by the Nucleotide Excision Repair system (NER) and how NER activity, through the generation of single stranded DNA intermediates and activation of the DNA damage response kinase ATR, drives gene expression in a genotoxic scenario. Read More

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http://dx.doi.org/10.1080/15476286.2018.1464354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161737PMC
December 2018

Temporal Bone Histopathology in Cockayne Syndrome.

Otol Neurotol 2018 Jun;39(5):e387-e391

Otopathology Laboratory, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.

: Cockayne syndrome (CS) is a rare autosomal recessive syndrome resulting in defective DNA repair. Its features include cachectic dwarfism, hearing loss, skin hypersensitivity to sunlight, premature aging, and dementia. Presented is a right temporal bone of a patient who died at the age of 29 years. Read More

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http://dx.doi.org/10.1097/MAO.0000000000001801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940547PMC
June 2018
1 Read

Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state.

Biochem Biophys Res Commun 2018 06 9;500(2):163-169. Epub 2018 Apr 9.

National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), 7-6-8 Saito-Asagi, Ibaraki, Osaka, 567-0085, Japan; Graduate School of Pharmaceutical Sciences, Osaka University, 1-6 Yamadaoka, Suita, Osaka, 565-0871, Japan.

Cockayne syndrome (CS) is a severe disorder with no effective treatment. The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UVS), a disorder that causes mild symptoms. How the CSB gene determines a patient's fate is unknown, but one intriguing point is that in UVS patient cell, there are nonsense mutations in both alleles at the same position in each upstream region of the PiggyBac transposable element derived 3 (PGBD3) inserted region. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0006291X183077
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http://dx.doi.org/10.1016/j.bbrc.2018.04.015DOI Listing
June 2018
6 Reads

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

J Med Genet 2018 May 23;55(5):329-343. Epub 2018 Mar 23.

Genome Damage and Stability Centre, University of Sussex, Brighton, UK.

Background: Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity and an abnormal cellular response to UV light due to mutations in either the / or / gene. Studies performed thus far have failed to delineate clear genotype-phenotype relationships. Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104877DOI Listing
May 2018
9 Reads

CSA and CSB play a role in the response to DNA breaks.

Oncotarget 2018 Feb 29;9(14):11581-11591. Epub 2018 Jan 29.

Section of Mechanisms, Biomarkers and Models, Department of Environment and Health, Istituto Superiore di Sanità, Roma, Italy.

CS proteins have been involved in the repair of a wide variety of DNA lesions. Here, we analyse the role of CS proteins in DNA break repair by studying histone H2AX phosphorylation in different cell cycle phases and DNA break repair by comet assay in CS-A and CS-B primary and transformed cells. Following methyl methane sulphate treatment a significant accumulation of unrepaired single strand breaks was detected in CS cells as compared to normal cells, leading to accumulation of double strand breaks in S and G2 phases. Read More

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http://dx.doi.org/10.18632/oncotarget.24342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837770PMC
February 2018
6 Reads
6.360 Impact Factor

TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A.

Nat Commun 2018 03 12;9(1):1040. Epub 2018 Mar 12.

Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, 2333 ZC, The Netherlands.

Transcription-blocking DNA lesions are removed by transcription-coupled nucleotide excision repair (TC-NER) to preserve cell viability. TC-NER is triggered by the stalling of RNA polymerase II at DNA lesions, leading to the recruitment of TC-NER-specific factors such as the CSA-DDB1-CUL4A-RBX1 cullin-RING ubiquitin ligase complex (CRL). Despite its vital role in TC-NER, little is known about the regulation of the CRL complex during TC-NER. Read More

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http://dx.doi.org/10.1038/s41467-018-03484-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847541PMC
March 2018
9 Reads

CSB: An Emerging Actionable Target for Cancer Therapy.

Trends Cancer 2018 03 23;4(3):172-175. Epub 2018 Feb 23.

Unit of Molecular Genetics of Aging and Laboratory of Epigenetics, Department of Ecology and Biology, University of Tuscia, 01100 Viterbo, Italy.

The DNA repair protein Cockayne syndrome group B (CSB) is frequently found overexpressed in cancer cells. High CSB levels favor tumor cell proliferation whilst inhibiting apoptosis. Conversely, the suppression of CSB has significant anticancer effects. Read More

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http://dx.doi.org/10.1016/j.trecan.2018.01.005DOI Listing
March 2018
2 Reads

Cochlear implantation in pediatric patients with Cockayne Syndrome.

Int J Pediatr Otorhinolaryngol 2018 Mar 30;106:64-67. Epub 2017 Dec 30.

Dell Medical School at the University of Texas at Austin, Department of Otolaryngology/ENT, 6811 Austin Center Blvd Suite 300, Austin, TX 78731, USA. Electronic address:

Cockayne Syndrome (CS) is a rare, autosomal recessive disorder characterized by a spectrum of phenotypic abnormalities, including progressive sensorineural hearing loss (SNHL) that involves both peripheral and central components. To date, a single series of CS patients undergoing cochlear implant (CI) placement has been reported; this study reports on additional previously unreported pediatric CI recipients. Subjective benefits were noted early after activation in both patients, and speech perception scores improved over time as well, varying from 42 to 70% (versus 0-12% previously). Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.12.029DOI Listing
March 2018
2 Reads
1.320 Impact Factor