Nature Search

Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

E.L. Rugg
S.M. Morley
E.B. Lane
Research01 Nov 1993
Nature Genetics

Volume: 5, P: 294-300
Dr. L. Cockayne, C.M.G., F.R.S

W. B. TURRILL
Comments & Opinion04 Aug 1934
Nature

Volume: 134, P: 170
Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice

C Trapp
K Reite
B Epe
Research08 Jan 2007
Oncogene

Volume: 26, P: 4044-4048
Establishment of Cockayne syndrome fibroblast cell line belonging to complementation group B by SV40 transformation

Kiyoji Tanaka
Kazuhiko Kawai
Yoshio Okada
Research14 Jun 2005
Japanese journal of human genetics

Volume: 30, P: 21-29
Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B

Tinna Stevnsner
Simon Nyaga
Vilhelm A Bohr
Research16 Dec 2002
Oncogene

Volume: 21, P: 8675-8682
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

Hua Xie
Xiaoyan Li
Xiaoli Chen
ResearchOpen Access23 Mar 2017
Scientific Reports

Volume: 7, P: 1-8
Rapid procedures for prenatal diagnosis of Cockayne syndrome

Kazuhiko Kawai
Mituo Ikenaga
Yuichi Kumahara
Research01 Sept 1983
Japanese journal of human genetics

Volume: 28, P: 223-229
The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells

Kasper J Kyng
Alfred May
Vilhelm A Bohr
Research27 Feb 2003
Oncogene

Volume: 22, P: 1135-1149
DNA damage in macrophages drives immune autoreactivity via nuclear antigen presentation

Using a mouse model with a macrophage-specific DNA repair defect, Niotis, Arvanitaki et al. identify DNA damage-induced autophagy in macrophages as a link from aging to autoimmunity.

George Niotis
Ermioni S. Arvanitaki
George A. Garinis
ResearchOpen Access15 Jan 2026
Nature Aging

Volume: 6, P: 393-413
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Tomoo Ogi and colleagues report mutations of UVSSA causing a third complementation group of the UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to resolve stalled RNA polymerase IIo at DNA damage sites.

Yuka Nakazawa
Kensaku Sasaki
Tomoo Ogi
Research01 Apr 2012
Nature Genetics

Volume: 44, P: 586-592
Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair

Yuji Takebayashi
Philippe Pourquier
Yves Pommier
Research01 Aug 2001
Nature Medicine

Volume: 7, P: 961-966
New Aspects of the Genetic Control of Industrial Melanism in the Lepidoptera

H. B. D. KETTLEWELL
Research04 Apr 1959
Nature

Volume: 183, P: 918-921
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

Inherited mutations in the nucleotide excision DNA repair pathway cause an unusually diverse range of clinical abnormalities; even mutations in the same gene can cause markedly different phenotypes. Recent structural, genetic and clinical studies are helping to explain this variability.

James E. Cleaver
Ernest T. Lam
Ingrid Revet
Reviews07 Oct 2009
Nature Reviews Genetics

Volume: 10, P: 756-768
Targeting DNA damage in ageing: towards supercharging DNA repair

DNA damage to the somatic genome has been identified as a major cause of ageing. This Perspective provides an overview of current understanding of the role of genome instability in the ageing process and assesses therapeutic strategies targeting the cellular response to DNA damage to delay ageing and prevent associated diseases.

Arturo Bujarrabal-Dueso
George A. Garinis
Björn Schumacher
Reviews12 Jun 2025
Nature Reviews Drug Discovery

Volume: 24, P: 785-807
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair

Kiyoji Tanaka and colleagues report mutations of UVSSA causing a third complementation group of UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to resolve stalled RNA polymerase IIo at DNA damage sites.

Xue Zhang
Katsuyoshi Horibata
Kiyoji Tanaka
Research01 Apr 2012
Nature Genetics

Volume: 44, P: 593-597
Emerging strategies, applications and challenges of targeting NAD⁺ in the clinic

Levels of the metabolic coenzyme NAD⁺ decline during aging, which is linked to many age-related diseases. Zhang et al. review recent clinical and translational evidence testing NAD⁺ supplementation in age-related diseases, highlighting therapeutic challenges and opportunities.

Jianying Zhang
He-Ling Wang
Evandro Fei Fang
Reviews09 Sept 2025
Nature Aging

Volume: 5, P: 1704-1731
Purification of Sodium Tungstate

M. P. GATES
B. COCKAYNE
Research21 Aug 1965
Nature

Volume: 207, P: 855
Effect of Micro-crystal Formation on the Electron Spin Resonance Spectra of αα-Diphenyl-β-picrylhydrazyl in Various Frozen Solvents

P. B. AYSCOUGH
H. E. EVANS
A. P. MCCANN
Research26 Sept 1964
Nature

Volume: 203, P: 1378
Calcium Fluoride : Slip and Polygonization during Crystal Growth

B. COCKAYNE
D. S. ROBERTSON
B. W. STRAUGHAN
Research26 Sept 1964
Nature

Volume: 203, P: 1376-1378
Structural basis of cyclobutane pyrimidine dimer recognition by UV-DDB in the nucleosome

UV-DDB is a protein that plays a key role in recognizing DNA lesions. Here, the authors determine the cryo-EM structure of UV-DDB bound to UV-damaged chromatin in human cells, identifying a nucleosome binding site.

Syota Matsumoto
Yoshimasa Takizawa
Hitoshi Kurumizaka
ResearchOpen Access11 Nov 2025
Nature Communications

Volume: 16, P: 1-11
p53 modulation of TFIIH–associated nucleotide excision repair activity

X.W. Wang
H. Yeh
C.C. Harris
Research01 Jun 1995
Nature Genetics

Volume: 10, P: 188-195
Amorphous silicon MIS solar cells

J. I. B. WILSON
J. McGILL
S. KINMOND
Research09 Mar 1978
Nature

Volume: 272, P: 152-153
A Metastable Intermediate Phase in the System Indium—Indium Antimony

B. C. GIESSEN
R. H. KANE
N. J. GRANT
Research21 Aug 1965
Nature

Volume: 207, P: 854-855
Authentic role of ATP signaling in micturition reflex

Kentaro Takezawa
Makoto Kondo
Shoichi Shimada
ResearchOpen Access22 Jan 2016
Scientific Reports

Volume: 6, P: 1-9
Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

G. B. ARDEN
B. Fox
Research01 Jun 1979
Nature

Volume: 279, P: 534-536
Kidneys control inter-organ homeostasis

Cockayne syndrome is a genetic disease characterized by impairment of DNA repair mechanisms, premature ageing, cachexia and kidney dysfunction. New research in a mouse model of Cockayne syndrome demonstrates that injury induces a subset of kidney proximal tubule cells to express the anorexigenic peptide GDF15. These findings link kidney injury to cachexia and highlight the role of the kidney in mediating inter-organ homeostasis.

Victor G. Puelles
Tobias B. Huber
News & Views14 Feb 2022
Nature Reviews Nephrology

Volume: 18, P: 207-208
DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering

ERCC1 is involved in a number of DNA repair pathways including nucleotide excision repair. Here the authors showed that reduced transcription in Ercc1-deficient mouse livers and cells increases ATP levels, suppressing glycolysis and rerouting glucose into the pentose phosphate shunt that generates reductive stress.

Chiara Milanese
Cíntia R. Bombardieri
Pier G. Mastroberardino
ResearchOpen Access25 Oct 2019
Nature Communications

Volume: 10, P: 1-16
Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice

A restricted diet extends the lives and improves the health of mice with accelerated ageing due to an inability to repair DNA damage.

W. P. Vermeij
M. E. T. Dollé
J. H. J. Hoeijmakers
Research24 Aug 2016
Nature

Volume: 537, P: 427-431
Transcription-coupled DNA–protein crosslink repair by CSB and CRL4^CSA-mediated degradation

Three studies identify a transcription-coupled DNA–protein crosslink repair pathway that depends on the Cockayne syndrome proteins and the proteasome.

Marjolein van Sluis
Qing Yu
Jurgen A. Marteijn
ResearchOpen Access10 Apr 2024
Nature Cell Biology

Volume: 26, P: 770-783
Mutant WD-repeat protein in triple-A syndrome

Anna Tullio-Pelet
Rémi Salomon
Stanislas Lyonnet
Research01 Nov 2000
Nature Genetics

Volume: 26, P: 332-335
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders

DNA damage has been implicated in aging and neurodegeneration. Here, the authors develop a bioinformatic method to detect deletions in single neuron genome sequences and reveal an increased burden of somatic deletions during aging and in DNA repair disorders.

Junho Kim
August Yue Huang
Eunjung Alice Lee
ResearchOpen Access07 Oct 2022
Nature Communications

Volume: 13, P: 1-13
DNA helicases involved in DNA repair and their roles in cancer

Several cancers and genetic disorders are linked to defects in helicases that have roles in genome maintenance and stability. This Review discusses helicase-dependent DNA repair pathways and how targeting these might improve cancer treatments based on DNA-damaging chemotherapy or radiation.

Robert M. Brosh Jr.
Reviews11 Jul 2013
Nature Reviews Cancer

Volume: 13, P: 542-558
Rainfall Initiation by Meteor Particles

PER B. STOREBØ
Research12 May 1962
Nature

Volume: 194, P: 524-527
Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

Ronny Drapkin
Joyce T. Reardon
Danny Reinberg
Research21 Apr 1994
Nature

Volume: 368, P: 769-772
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

E. B. Lane
E. L. Rugg
R. A. J. Eady
Research19 Mar 1992
Nature

Volume: 356, P: 244-246
Cross-ancestry genome-wide association studies of brain imaging phenotypes

Cross-ancestry genome-wide association studies of 3,414 brain imaging phenotypes in Chinese Han and white British participants identify autosomal and X-chromosomal associations in more diverse populations.

Jilian Fu
Quan Zhang
Yue Wu
Research29 May 2024
Nature Genetics

Volume: 56, P: 1110-1120
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments

DNA damage causes a major reorganization of the nucleolus. Here, the authors find that this structural restoration depends on the shuttling of the protein SMN from the Cajal bodies to the nucleolus, which requires coilin and PRMT1.

Shaqraa Musawi
Lise-Marie Donnio
Giuseppina Giglia-Mari
ResearchOpen Access15 Nov 2023
Nature Communications

Volume: 14, P: 1-17
The Plant-Life of the Balkan Peninsula: a Phytogeographical Study

A. B. R.
Books & Arts06 Jul 1929
Nature

Volume: 124, P: 6
Scheelite Structures: Single Crystal Growth and Transmission Data

B. COCKAYNE
J. D. RIDLEY
Research05 Sept 1964
Nature

Volume: 203, P: 1054-1055
Structural basis for the initiation of eukaryotic transcription-coupled DNA repair

Cryo-electron microscopy analysis of yeast Rad26 bound to RNA polymerase II provides insight into the initiation of the transcription-coupled DNA repair mechanism in eukaryotes.

Jun Xu
Indrajit Lahiri
Dong Wang
Research22 Nov 2017
Nature

Volume: 551, P: 653-657
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant

Roberto Ricciardiello
Giulia Forleo
Simone Sabbioneda
ResearchOpen Access11 Jan 2024
Scientific Reports

Volume: 14, P: 1-8
Transcription stress at telomeres leads to cytosolic DNA release and paracrine senescence

Cellular senescence and the process of transcription are intimately linked, yet the mechanisms involved remain unclear. Here the authors show that a defect in TFIIS leads to telomere dysfunction, genome instability and the release of vesicles that induce senescence to neighboring cells.

Athanasios Siametis
Kalliopi Stratigi
George A. Garinis
ResearchOpen Access14 May 2024
Nature Communications

Volume: 15, P: 1-20
Elongation factor ELOF1 drives transcription-coupled repair and prevents genome instability

Two side-by-side papers report that the transcription elongation factor ELOF1 drives transcription-coupled repair and prevents replication stress.

Marit E. Geijer
Di Zhou
Jurgen A. Marteijn
Research09 Jun 2021
Nature Cell Biology

Volume: 23, P: 608-619
Mitochondrial H₂O₂ release does not directly cause damage to chromosomal DNA

Nuclear DNA damage downstream of mitochondrial ROS is often cited to contribute to cancer initiation and aging. However, here the authors show that although H₂O₂ induces DNA mutations when produced near DNA, it does not when released by mitochondria.

Daan M. K. van Soest
Paulien E. Polderman
Tobias B. Dansen
ResearchOpen Access28 Mar 2024
Nature Communications

Volume: 15, P: 1-16
In TFIIH the Arch domain of XPD is mechanistically essential for transcription and DNA repair

XPD is part of the TFIIH complex which plays major roles in transcription initiation and nucleotide excision repair (NER). Here the authors present a high-resolution crystal structure of the XPD-MAT1 interface and dissect the role of this interface in transcription and NER.

Stefan Peissert
Florian Sauer
Caroline Kisker
ResearchOpen Access03 Apr 2020
Nature Communications

Volume: 11, P: 1-13
Anion redox as a means to derive layered manganese oxychalcogenides with exotic intergrowth structures

Low temperature chemical transformations of solids using high-energy intermediates have enabled the synthesis of a new series of layered oxide chalcogenide containing oxidised chalcogenide dimers promising a new range of solids.

Shunsuke Sasaki
Souvik Giri
Simon J. Clarke
ResearchOpen Access22 May 2023
Nature Communications

Volume: 14, P: 1-11
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Takayuki Yokoi
Yumi Enomoto
Kenji Kurosawa
ResearchOpen Access07 Aug 2020
Human Genome Variation

Volume: 7, P: 1-4
Enhancing chemotherapy response through augmented synthetic lethality by co-targeting nucleotide excision repair and cell-cycle checkpoints

Cell cycle checkpoint kinase, MK2, is in synthetic relationship with p53 in the DNA damage response to chemotherapeutic agents. Here, the authors report XPA as a third gene in which simultaneous targeting of MK2 and XPA further enhances sensitivity to cisplatin in p53-deficient tumours.

Yi Wen Kong
Erik C. Dreaden
Michael B. Yaffe
ResearchOpen Access17 Aug 2020
Nature Communications

Volume: 11, P: 1-12
Using RNA therapeutics to promote healthy aging

Chen and colleagues explore how RNA therapeutics targeting mechanisms of aging can be used to treat age-related diseases and promote healthy aging. They discuss current preclinical and clinical progress, along with key challenges and future directions.

Shuying Chen
Qian Chen
Wei Tao
Reviews11 Jun 2025
Nature Aging

Volume: 5, P: 968-983
DNA damage-induced transcription stress triggers the genome-wide degradation of promoter-bound Pol II

DNA damage inhibits elongating RNA polymerase II, but also initiates genome-wide transcriptional responses. Here the authors reveal that particularly promoter-bound Pol II is degraded upon DNA damage in a GSK3 signaling-mediated response.

Barbara Steurer
Roel C. Janssens
Jurgen Marteijn
ResearchOpen Access24 Jun 2022
Nature Communications

Volume: 13, P: 1-18

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