[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].

A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.

Repurposing Alkylating Agents in Melanoma via ERCC8 Silencing: A Novel Therapeutic Strategy.

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management.

Studies on the functionality of the TC-NER ERCC6-M1097V protein variant frequently found in Louisiana patients with PCa upon UV damage.

Advancing Obstetric Care: The Role of Targeted Next-Generation Sequencing in Pregnancies with Structurally Normal Fetuses.

Cockayne syndrome mutation in XPG activate the integrated stress response.

ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.

A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.

PARP1 and PARylation facilitate transcription-coupled DNA repair by stabilizing the CSB-RNAPII complex.

Metronidazole-Induced Hepatotoxicity in Children with Cockayne Syndrome.

Molecular basis for CSB stimulation of the SNM1A DNA repair nuclease.

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion.

Mechanisms of transcription-coupled repair and DNA damage surveillance in health and disease.

Expanding the landscape of nucleotide excision repair disorders: from discovery to therapy.

Protective role of Cockayne Syndrome B (CSB) protein in maintaining genome integrity in human cells under oxidative stress.

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Exploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.

Overexpression of Ku80 Protects Lens Epithelial Cells from Selenium-Induced Cataract Formation by Regulating the DNA Damage Response.

Case report: neuroimaging in Cockayne syndrome.

Neuroimages of an Adult Cockayne Syndrome Patient.

The aflatoxin B1-induced formamidopyrimidine adduct is repaired by transcription-coupled nucleotide excision repair in human cells.

Anaesthesia for children with DNA repair disorders.

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Genome-wide mapping of formaldehyde-induced DNA-protein crosslinks reveals unique patterns of formation and transcription-coupled removal in mammalian cells.

Transcription-Coupled Nucleotide Excision Repair: A Faster Solution or the Only Option?

Unusual Blood Pressure Response to Local Anesthetic in a Patient With Rare Cockayne Syndrome Undergoing Dental Surgery Under General Anesthesia.

The clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?

Altered pathways in Cockayne syndrome: Involvement of MAPK, PI3K-Akt, extracellular matrix, inflammation, and neuronal signaling.

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?

Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant.

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Emerging mechanisms underlying formaldehyde toxicity and response.

Biological Models of Oxidative Purine DNA Damage in Neurodegenerative Disorders.

Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesis.

Amy and Friends: improving the lives of individuals affected by DNA repair disorders.

Transcription-coupled repair: tangled up in convoluted repair.

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.

Transcription blocking properties and transcription-coupled repair of N2-alkylguanine adducts as a model for aldehyde-induced DNA damage.

A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family.

ATP-Dependent Chromatin Remodeler CSB Couples DNA Repair Pathways to Transcription with Implications for Cockayne Syndrome and Cancer Therapy.

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

PML Nuclear Bodies and Cellular Senescence: A Comparative Study of Healthy and Premature Aging Syndrome Donors' Cells.

Syndromic retinitis pigmentosa.

Activities of the Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.

Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders.

Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening.

A subset of human dermal fibroblasts overexpressing Cockayne syndrome group B protein resist UVB radiation-mediated premature senescence.

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.

Transcription-coupled repair of DNA-protein crosslinks.

Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses.

The Emerging Roles of Multimolecular G-Quadruplexes in Transcriptional Regulation and Chromatin Organization.

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.

Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.

Cockayne syndrome B protein is implicated in transcription and associated chromatin dynamics in homeostatic and genotoxic conditions.

Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.

Childhood-inherited white matter disorders with calcification.

General loss of proteostasis links Huntington disease to Cockayne syndrome.

Molecular insights into the stimulation of SNM1A nuclease activity by CSB during interstrand crosslink processing.

A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function.

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.

HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B.

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

DNA lesions that block transcription induce the death of Trypanosoma cruzi via ATR activation, which is dependent on the presence of R-loops.

Sequential post-translational modifications regulate damaged DNA-binding protein DDB2 function.

Differential processing of RNA polymerase II at DNA damage correlates with transcription-coupled repair syndrome severity.

Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.

Genomic stress in diseases stemming from defects in the second brain.

CS proteins and ubiquitination: orchestrating DNA repair with transcription and cell division.

Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging.

The ARK2N-CK2 complex initiates transcription-coupled repair through enhancing the interaction of CSB with lesion-stalled RNAPII.

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.

Treatment outcomes of cochlear implantation in pediatric patients with Cockayne syndrome type I: a case series.

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Airway management in a patient with Cockayne syndrome.

DNA repair deficiencies and neurodegeneration.

Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism.

Transcription-coupled repair of DNA-protein cross-links depends on CSA and CSB.

Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair.

Premature aging in genetic diseases: what conclusions can be drawn for physiological aging.

Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging.

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2.1J.

Generation of site-specifically labelled fluorescent human XPA to investigate DNA binding dynamics during nucleotide excision repair.

Defining the progeria phenome.

Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial.

Magnetic Bimetallic Heterointerface Nanomissiles with Enhanced Microwave Absorption for Microwave Thermal/Dynamics Therapy of Breast Cancer.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.

Elf1 promotes Rad26's interaction with lesion-arrested Pol II for transcription-coupled repair.

Cockayne syndrome: A pediatric neurodegenerative disorder linking mitochondria to aging.

Live-cell imaging of endogenous CSB-mScarletI as a sensitive marker for DNA-damage-induced transcription stress.

A Case of ERCC6-Related Cockayne Syndrome Presenting with Levodopa-Responsive Tremor Syndrome.

Constructing green superhydrophilic and superoleophobic COFs-MOFs hybrid-based membrane for efficiently emulsion separation and synchronous removal of microplastics, dyes, and pesticides.

TFIIH central activity in nucleotide excision repair to prevent disease.

Mixed-Linkage Donor-Acceptor Covalent Organic Framework as a Turn-On Fluorescent Sensor for Aliphatic Amines.

Heat shock protein DNAJA2 regulates transcription-coupled repair by triggering CSB degradation via chaperone-mediated autophagy.

Genome-wide analysis of transcription-coupled repair reveals novel transcription events in Caenorhabditis elegans.

Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap.

Senescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes.

Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.

Recent advances in fluorescence-based chemosensing of organoarsenic feed additives using luminescence MOFs, COFs, HOFs, and QDs.

Efficient capture and highly sensitive analysis of okadaic acid by three-dimensional covalent organic frameworks with hydroxyl surface engineering.

[Progeroid syndromes : Aging, skin aging, and mechanisms of progeroid syndromes].

Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks.

Arabidopsis RAD16 Homologues Are Involved in UV Tolerance and Growth.

Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.

CSB Regulates Pathway Choice in Response to DNA Replication Stress Induced by Camptothecin.

The Multifaceted Syndromic Primary Immunodeficiencies in Children.

Insights into aging from progeroid syndrome epigenetics.

The role of Transcription Factor IIH complex in nucleotide excision repair.

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia.

Size-controlling preparation of covalent organic framework nanospheres for electrochemical impedimetric aptasensing of oxytetracycline.

Aldehyde-Associated Mutagenesis─Current State of Knowledge.

Orally delivered 2D covalent organic frameworks releasing kynurenine generate anti-inflammatory T cell responses in collagen induced arthritis mouse model.

The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions.

Cockayne syndrome group A protein localizes at centrosomes during mitosis and regulates Cyclin B1 ubiquitination.

The nucleotide excision repair proteins through the lens of molecular dynamics simulations.

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation.

Transcription-Coupled Nucleotide Excision Repair and the Transcriptional Response to UV-Induced DNA Damage.

Can accelerated ageing models inform us on age-related tauopathies?

Age or lifestyle-induced accumulation of genotoxicity is associated with a length-dependent decrease in gene expression.

Caenorhabditis elegans as a Model System to Study Human Neurodegenerative Disorders.

Reticular Chemistry-Enabled Sonodynamic Activity of Covalent Organic Frameworks for Nanodynamic Cancer Therapy.

Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases.

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Three-Dimensional van der Waals Heterostructure-Based Nanocages as Supersensitive 3-Hydroxy-2-butanone Gas Sensors at Room Temperature.

A case of Cockayne syndrome with unusually mild clinical manifestations.

Identification and characterization of Necdin as a target for the Cockayne syndrome B protein in promoting neuronal differentiation and maintenance.

An ionic vinylene-linked three-dimensional covalent organic framework for selective and efficient trapping of ReO4- or 99TcO4.

Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome.

Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test.

Fluorine-Containing Covalent Organic Frameworks: Synthesis and Application.

Assessing the Formation of Purine Lesions in Mitochondrial DNA of Cockayne Syndrome Cells.

TFIIH mutations can impact on translational fidelity of the ribosome.

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.

Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders.

Peripheral neuropathies associated with DNA repair disorders.

Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy.

The ATRX splicing variant c.21-1G>A is asymptomatic.

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes.

Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.

A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer.

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.

Cockayne syndrome group B protein uses its DNA translocase activity to promote mitotic DNA synthesis.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

Metronidazole-induced hepatotoxicity in a patient with xeroderma pigmentosum: A case report.

Keeping COFs in the loop.

Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations.

Effects of Oxygen Tension for Membrane Lipidome Remodeling of Cockayne Syndrome Cell Models.

CSA Antisense Targeting Enhances Anticancer Drug Sensitivity in Breast Cancer Cells, including the Triple-Negative Subtype.

Camptothecin compromises transcription recovery and cell survival against cisplatin and ultraviolet irradiation regardless of transcription-coupled nucleotide excision repair.

The UVSSA protein is part of a genome integrity homeostasis network with links to transcription-coupled DNA repair and ATM signaling.

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

XPG: a multitasking genome caretaker.

Dynamic Interplay between Cockayne Syndrome Protein B and Poly(ADP-Ribose) Polymerase 1 during Oxidative DNA Damage Repair.

Kidneys control inter-organ homeostasis.

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.

Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis.

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.

Embryonal sarcoma of the liver in a girl with Cockayne syndrome.

Cockayne syndrome group B protein regulates fork restart, fork progression and MRE11-dependent fork degradation in BRCA1/2-deficient cells.

Cockayne Syndrome B Protein Selectively Resolves and Interact with Intermolecular DNA G-Quadruplex Structures.

Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.

Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome.

Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response.

Hepatotoxicity of metronidazole in Cockayne syndrome: A clinical report.

Functions of the CSB Protein at Topoisomerase 2 Inhibitors-Induced DNA Lesions.

Cockayne syndrome type: a very rare association with hemorrhagic stroke.

Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder.

Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model.

Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.

Neuroblastoma Cells Depend on CSB for Faithful Execution of Cytokinesis and Survival.

Structural basis of human transcription-DNA repair coupling.

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.

Reactive Species in Progeroid Syndromes and Aging-Related Processes.

Transcription-coupled repair and the transcriptional response to UV-Irradiation.

Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

50 Years Ago in TheJournalofPediatrics: Cataracts, Microcephaly, and Arthrogryposis.

DRP1 Inhibition Rescues Mitochondrial Integrity and Excessive Apoptosis in CS-A Disease Cell Models.

Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene.

Botulinum toxin injection for Cockayne syndrome with muscle spasticity over bilateral lower limbs: A case report.

Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding.