Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair (Q24310583)

GOA release 2020-03-11

protein ubiquitination

1 reference

GOA release 2020-03-11

UV-sensitive syndrome

1 reference

Hiroyuki Mishima

10

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Tomoo Ogi

Tomoo Ogi

24

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Norisato Mitsutake

Norisato Mitsutake

3

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Shun'ichi Yamashita

Shunichi Yamashita

20

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Akira Kinoshita

12

Akira Kinoshita

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author name string

Yuka Nakazawa

1

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Kensaku Sasaki

2

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Michiko Matsuse

4

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Mayuko Shimada

5

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Tiziana Nardo

6

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Yoshito Takahashi

7

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Kaname Ohyama

8

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Kosei Ito

9

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Masayo Nomura

11

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Shinji Ono

13

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Katsuya Takenaka

14

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Ritsuko Masuyama

15

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Takashi Kudo

16

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Hanoch Slor

17

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Atsushi Utani

18

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Satoshi Tateishi

19

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Miria Stefanini

21

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Alan R Lehmann

22

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Koh-ichiro Yoshiura

Targeted capture and massively parallel sequencing of 12 human exomes

23

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language of work or name

English

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publication date

May 2012

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published in

Nature Genetics

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volume

44

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issue

5

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page(s)

586-92

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cites work

1 reference

Protein structure prediction on the Web: a case study using the Phyre server

20 April 2017

1 reference

VHS domains of ESCRT-0 cooperate in high-avidity binding to polyubiquitinated cargo

20 April 2017

1 reference

Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo

20 April 2017

1 reference

UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells

20 April 2017

1 reference

Damage-induced ubiquitylation of human RNA polymerase II by the ubiquitin ligase Nedd4, but not Cockayne syndrome proteins or BRCA1

20 April 2017

1 reference

BRCA1/BARD1 inhibition of mRNA 3' processing involves targeted degradation of RNA polymerase II.

20 April 2017

1 reference

Ubiquitin ligase activity of TFIIH and the transcriptional response to DNA damage

20 April 2017

1 reference

The role of CSA in the response to oxidative DNA damage in human cells

20 April 2017

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

20 April 2017

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 April 2017

1 reference

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

20 April 2017

1 reference

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 April 2017

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 April 2017

1 reference

SIFT: Predicting amino acid changes that affect protein function

20 April 2017

1 reference

Transcription-coupled DNA repair: two decades of progress and surprises

20 April 2017

1 reference

Ubiquitin-binding domains - from structures to functions

20 April 2017

1 reference

20 April 2017

UV-sensitive syndrome

1 reference

A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations

21 January 2018

1 reference

Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers

21 January 2018

1 reference

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome

21 January 2018

1 reference

Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.

21 January 2018

1 reference

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

21 January 2018

1 reference

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).

21 January 2018

1 reference

A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives

21 January 2018

1 reference

VHS domain -- a longshoreman of vesicle lines.

21 January 2018

1 reference

XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients

21 January 2018

1 reference

UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II.

21 January 2018

1 reference

BRCA1/BARD1 ubiquitinate phosphorylated RNA polymerase II.

21 January 2018

1 reference

Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts

21 January 2018

1 reference

Dindel: accurate indel calls from short-read data

21 January 2018

1 reference

Xeroderma pigmentosum complementation group E: a case report

21 January 2018

1 reference

12 December 2020

Clinical syndromes associated with DNA repair deficiency and enhanced sun sensitivity

1 reference

12 December 2020

Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum

1 reference

12 December 2020

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair

1 reference

12 December 2020

A New Human Photosensitive Subject with a Defect in the Recovery of DNA Synthesis after Ultraviolet-light Irradiation

1 reference

12 December 2020

UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I.

1 reference

12 December 2020

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair

1 reference

12 December 2020