A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

scientific article published on 9 August 2017

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.3389/FPED.2017.00169
P932PMC publication ID5552663
P698PubMed publication ID28848724

P50authorMajid FardaeiQ57090458
P2093author name stringMohammad Ali Faghihi
Hassan Dastsooz
Sanaz Mohammadi
Maryam Taghdiri
Mohammad Ali Farazi Fard
P2860cites workModel for XPC-independent transcription-coupled repair of pyrimidine dimers in humansQ38347606
Cockayne syndrome: Clinical features, model systems and pathwaysQ38923380
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndromeQ40387306
Human nucleotide excision repair syndromes: molecular clues to unexpected intricaciesQ40515675
Cockayne syndrome: Unusual neuropathological findings and review of the literatureQ41205497
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndromeQ44565717
DNA repair in an active gene: removal of pyrimidine dimers from the DHFR gene of CHO cells is much more efficient than in the genome overall.Q54455838
Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer centerQ64047834
Early onset of Cockayne syndromeQ70502042
Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosumQ72658941
[Molecular mechanism of nucleotide excision repair in mammalian cells]Q73033105
A comprehensive description of the severity groups in Cockayne syndromeQ83824079
The role of CSA in the response to oxidative DNA damage in human cellsQ24297071
Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivoQ24300037
The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damageQ24301297
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIHQ24336968
CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndromeQ24338620
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Mechanisms of interstrand DNA crosslink repair and human disordersQ26746868
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
Sequential assembly of the nucleotide excision repair factors in vivoQ28610121
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
Molecular mechanism of nucleotide excision repair.Q30669716
Xeroderma pigmentosum complementation group E protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair propertiesQ33226322
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.Q33640104
Nucleotide excision repair and human syndromesQ33846209
Cockayne syndrome: Review of 140 casesQ34232807
UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.Q34417183
Mechanisms of transcription-coupled DNA repairQ34514438
Subpathways of nucleotide excision repair and their regulationQ35026381
Transcription-coupled repair of oxidative DNA damage in human cells: mechanisms and consequencesQ35132516
Radiation-induced DNA damage: formation, measurement, and biochemical featuresQ35680225
Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndromeQ35699164
Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genesQ36728551
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.Q36871119
P304page(s)169
P577publication date2017-08-09
P1433published inFrontiers in pediatricsQ27725038
P1476titleA Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
P478volume5