1,627 results match your criteria Cockayne Syndrome


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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November 2018
1 Read

SSHeW study protocol: does slip resistant footwear reduce slips among healthcare workers? A randomised controlled trial.

BMJ Open 2018 Nov 15;8(11):e026023. Epub 2018 Nov 15.

York Trials Unit, Department of Health Sciences, University of York, York, UK.

Introduction: Slips, trips and falls are common causes of injuries in the workplace. It is estimated that in Great Britain, nearly 1 million days are taken off work due to these injuries. There is some evidence to suggest this accident burden could be reduced by the use of slip resistant footwear. Read More

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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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October 2018
4 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
12 Reads

A new species of Aculus mite (Acari: Eriophyidae), a potential biocontrol agent for Australian swamp stonecrop, Crassula helmsii (Crassulaceae).

Zootaxa 2018 Oct 11;4497(4):573-585. Epub 2018 Oct 11.

NSW Department of Primary Industries, Biosecurity Collections, Orange Agricultural Institute, Locked Bag 6006, 1447 Forest Rd, Orange, NSW 2800, Australia.

A new, gall-forming eriophyoid mite species is described from Australia. Aculus crassulae sp. nov. Read More

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October 2018
3 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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October 2018
3 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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January 2018
1 Read

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

J Biol Chem 2018 Nov 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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November 2018
8 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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September 2018
1 Read
1.080 Impact Factor

Can occupational therapist-led home environmental assessment prevent falls in older people? A modified cohort randomised controlled trial protocol.

BMJ Open 2018 Sep 10;8(9):e022488. Epub 2018 Sep 10.

York Trials Unit, Department of Health Sciences, University of York, York, UK.

Introduction: Falls and fall-related injuries are a serious cause of morbidity and cost to society. Environmental hazards are implicated as a major contributor to falls among older people. A recent Cochrane review found an environmental assessment, undertaken by an occupational therapist, to be an effective approach to reducing falls. Read More

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September 2018
4 Reads

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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September 2018

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 Aug 23. 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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August 2018
4 Reads

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

DNA Repair (Amst) 2018 Aug 23. 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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August 2018
5 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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October 2018
2 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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August 2018
1 Read

Characteristics of Radiofrequency Catheter Ablation Lesion Formation in Real Time In Vivo Using Near Field Ultrasound Imaging.

JACC Clin Electrophysiol 2018 Aug 30;4(8):1062-1072. Epub 2018 May 30.

Department of Cardiovascular Medicine, Beaumont Health System and Oakland University William Beaumont School of Medicine, Royal Oak, Michigan. Electronic address:

Objectives: Visualizing myocardium with near field ultrasound (NFUS) transducers in the tip of the catheter might provide an image of the evolving pathological lesion during energy delivery.

Background: Radiofrequency (RF) catheter ablation has been effective in arrhythmia treatment, but no technology has allowed lesion formation to be visualized in real time in vivo.

Methods: RF catheter ablations were performed in vivo with the goal to create transmural atrial lesions and large ventricular lesions. Read More

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August 2018
2 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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August 2018
6 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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September 2018

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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December 2018

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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September 2018
2 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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September 2018
3 Reads

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

J Invest Dermatol 2018 Sep 25. 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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September 2018
13 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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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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September 2018

Cost-Effectiveness of a Multifaceted Podiatry Intervention for the Prevention of Falls in Older People: The REducing Falls with Orthoses and a Multifaceted Podiatry Intervention Trial Findings.

Gerontology 2018 26;64(5):503-512. Epub 2018 Jun 26.

Department of Health Sciences, York Trials Unit, University of York, York, United Kingdom.

Background: Falls are a major cause of morbidity among older people. Multifaceted interventions may be effective in preventing falls and related fractures.

Objective: To evaluate the cost-effectiveness alongside the REducing Falls with Orthoses and a Multifaceted podiatry intervention (REFORM) trial. Read More

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June 2018
9 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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October 2018
5 Reads

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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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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July 2018
6 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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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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May 2018
3 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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August 2018
8 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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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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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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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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June 2018
3 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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May 2018
5 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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February 2018
3 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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March 2018
4 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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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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March 2018
2 Reads
1.320 Impact Factor

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Eur J Hum Genet 2018 04 8;26(4):527-536. Epub 2018 Feb 8.

Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, 1 place de l'hôpital, Strasbourg, 67091, France.

Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity. This rare disease is linked to disease-causing variations in the ERCC6 (CSB) and ERCC8 (CSA) genes. Various degrees of severity have been described according to age at onset and survival, without any clear genotype-phenotype correlation. Read More

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April 2018
7 Reads

Once weekly targeted excimer light produced modest repigmentation of vitiligo over a 20-week period.

J Eur Acad Dermatol Venereol 2018 Feb 8. Epub 2018 Feb 8.

Department of Dermatology, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK.

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February 2018
1 Read

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

J Hum Genet 2018 Apr 5;63(4):417-423. Epub 2018 Feb 5.

Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. Read More

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April 2018
8 Reads

Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.

Medicine (Baltimore) 2017 Dec;96(50):e8970

Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

Rationale: Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease. Read More

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December 2017
7 Reads

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

BMC Med Genet 2018 01 11;19(1). Epub 2018 Jan 11.

Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany.

Background: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks.

Case Presentation: A fifty-one-year old female patient, initially diagnosed with FA in childhood on the basis of classic features and increased chromosomal breakage, and remarkable sun-sensitivity is described. She only ever had mild haematological abnormalities and no history of malignancy. Read More

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January 2018
18 Reads

Actual state of knowledge in the field of diseases related with defective nucleotide excision repair.

Life Sci 2018 Feb 2;195:6-18. Epub 2018 Jan 2.

Food Science Department, Faculty of Pharmacy, Medical University of Lodz, Muszynskiego 1, 90-151 Lodz, Poland.

Xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) are rare genetic diseases characterized by a large range of clinical symptoms. However, they are all associated with defects in nucleotide excision repair (NER), the system responsible for removing bulky DNA lesions such as those generated by UV light: cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone photoproducts (6-4 PPs). Over the past years, detailed structural and biochemical information on NER-associated proteins has emerged. Read More

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February 2018
8 Reads

RNA polymerase II is released from the DNA template during transcription-coupled repair in mammalian cells.

J Biol Chem 2018 02 27;293(7):2476-2486. Epub 2017 Dec 27.

From the Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599-7260 and.

In mammalian cells, bulky DNA adducts located in the template but not the coding strand of genes block elongation by RNA polymerase II (RNAPII). The blocked RNAPII targets these transcription-blocking adducts to undergo more rapid excision repair than adducts located elsewhere in the genome. In excision repair, coupled incisions are made in the damaged DNA strand on both sides of the adduct. Read More

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February 2018
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Role of mitochondrial dysfunction in the pathophysiology of DNA repair disorders.

Cell Biol Int 2018 Jun 19;42(6):643-650. Epub 2018 Jan 19.

Departamento de Bioquímica, Instituto de Química, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

DNA is constantly being damaged, either by endogenous or exogenous genotoxins. In that regard, DNA repair activities are essential for maintaining genomic stability and to life itself. Mutations in genes encoding DNA repair proteins cause severe human syndromes, but DNA repair defects have also been linked to several other diseases, notably to cancer and normal aging. Read More

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June 2018
2 Reads

Near-Field Ultrasound Imaging During Radiofrequency Catheter Ablation: Tissue Thickness and Epicardial Wall Visualization and Assessment of Radiofrequency Ablation Lesion Formation and Depth.

Circ Arrhythm Electrophysiol 2017 Dec;10(12)

From the Department of Cardiovascular Medicine, Beaumont Health System and Oakland University William Beaumont School of Medicine, Royal Oak, MI (D.E.H.,); St. Thomas' Hospital, London, United Kingdom (M.W.); Philips Healthcare, Best, The Netherlands (E.H., S.D., S.F., R.B.); Philips Research, Eindhoven, The Netherlands (H.B., A.F.K., N.M., F.Z.); and Boston Scientific Co. Inc, San Jose, CA (D.R., W.S., D.C., J.C.).

Background: Safe and successful radiofrequency catheter ablation depends on creation of transmural lesions without collateral injury to contiguous structures. Near-field ultrasound (NFUS) imaging through transducers in the tip of an ablation catheter may provide important information about catheter contact, wall thickness, and ablation lesion formation.

Methods And Results: NFUS imaging was performed using a specially designed open-irrigated radiofrequency ablation catheter incorporating 4 ultrasound transducers. Read More

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December 2017
10 Reads