(Q54483278)

30 May 2018

title

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. (English)

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30 May 2018

disseminated superficial actinic porokeratosis

main subject

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Jun Wang

66

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author name string

Sheng-Quan Zhang

1

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30 May 2018

Tao Jiang

2

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30 May 2018

Min Li

3

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30 May 2018

Xin Zhang

4

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30 May 2018

Yun-Qing Ren

5

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30 May 2018

Sheng-Cai Wei

6

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30 May 2018

Liang-Dan Sun

7

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30 May 2018

Hui Cheng

8

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30 May 2018

Yang Li

9

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30 May 2018

Xian-Yong Yin

10

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30 May 2018

Zheng-Mao Hu

11

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30 May 2018

Zhen-Ying Wang

12

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30 May 2018

Yuan Liu

13

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30 May 2018

Bi-Rong Guo

14

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30 May 2018

Hua-Yang Tang

15

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30 May 2018

Xian-Fa Tang

16

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30 May 2018

Yan-Tao Ding

17

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30 May 2018

Jian-Bo Wang

18

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30 May 2018

Ping Li

19

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30 May 2018

Bao-Yu Wu

20

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30 May 2018

Wen Wang

21

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30 May 2018

Xiang-Feng Yuan

22

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30 May 2018

Jun-Sheng Hou

23

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30 May 2018

Wei-Wei Ha

24

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30 May 2018

Wen-Ju Wang

25

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30 May 2018

Yu-Juan Zhai

26

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30 May 2018

Jing Wang

27

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30 May 2018

Fang-Fang Qian

28

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30 May 2018

Fu-Sheng Zhou

29

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30 May 2018

Gang Chen

30

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30 May 2018

Xian-Bo Zuo

31

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30 May 2018

Xiao-Dong Zheng

32

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30 May 2018

Yu-Jun Sheng

33

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30 May 2018

Jin-Ping Gao

34

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30 May 2018

Bo Liang

35

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30 May 2018

Pan Li

36

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30 May 2018

Jun Zhu

37

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30 May 2018

Feng-Li Xiao

38

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30 May 2018

Pei-Guang Wang

39

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30 May 2018

Yong Cui

40

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30 May 2018

Hui Li

41

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30 May 2018

Sheng-Xiu Liu

42

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30 May 2018

Min Gao

43

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30 May 2018

Xing Fan

44

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30 May 2018

Song-Ke Shen

45

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30 May 2018

Ming Zeng

46

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30 May 2018

Guang-Qing Sun

47

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30 May 2018

Yu Xu

48

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30 May 2018

Jing-Chu Hu

49

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30 May 2018

Ting-Ting He

50

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30 May 2018

Ying-Rui Li

51

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30 May 2018

Huan-Ming Yang

52

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30 May 2018

Jian Wang

53

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30 May 2018

Zhong-Yi Yu

54

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30 May 2018

Hui-Feng Zhang

55

1 reference

30 May 2018

Xin Hu

56

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30 May 2018

Ke Yang

57

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30 May 2018

Jie Wang

58

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30 May 2018

Shi-Xiang Zhao

59

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30 May 2018

You-Wen Zhou

60

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30 May 2018

Jian-Jun Liu

61

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30 May 2018

Wei-Dong Du

62

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30 May 2018

Li Zhang

63

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30 May 2018

Kun Xia

64

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30 May 2018

Sen Yang

65

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30 May 2018

Xue-Jun Zhang

67

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30 May 2018

language of work or name

English

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publication date

16 September 2012

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30 May 2018

published in

Nature Genetics

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30 May 2018

volume

44

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30 May 2018

issue

10

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30 May 2018

page(s)

1156-1160

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30 May 2018

https://scigraph.springernature.com/pub.10.1038/ng.2409

exact match

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cites work

Porokeratosis and cutaneous malignancy. A review

1 reference

Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.

21 January 2018

1 reference

A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.

21 January 2018

1 reference

Fine mapping and identification of a candidate geneSSH1 in disseminated superficial actinic porokeratosis

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

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

21 January 2018

1 reference

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

21 January 2018

1 reference

The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease

21 January 2018

1 reference

Biochemical and genetic aspects of mevalonate kinase and its deficiency

21 January 2018

1 reference

21 January 2018

Isoprenylated proteins

1 reference

The skin barrier in healthy and diseased state

21 January 2018

1 reference

Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita

21 January 2018

1 reference

Calcium regulates the expression of insulin-like growth factor binding protein-3 by the human keratinocyte cell line HaCaT.

21 January 2018

1 reference

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

21 January 2018

1 reference

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

21 January 2018

1 reference

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

21 January 2018

1 reference

Mevalonate kinase deficiency: a survey of 50 patients.

21 January 2018

1 reference

SOAP: short oligonucleotide alignment program

21 January 2018

1 reference

SOAP2: an improved ultrafast tool for short read alignment

21 January 2018

1 reference

SNP detection for massively parallel whole-genome resequencing

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1

21 January 2018

1 reference

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

21 January 2018

1 reference

Disseminated superficial actinic porokeratosis. Genetic aspects

21 January 2018

1 reference

12 December 2020

Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned

1 reference

12 December 2020

Porokeratosis and malignant skin tumors

1 reference

12 December 2020

Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1.

1 reference

12 December 2020

Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group

1 reference

12 December 2020

1 reference

12 December 2020

Premature apoptosis of keratinocytes and the dysregulation of keratinization in porokeratosis

1 reference

12 December 2020

Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?

1 reference

12 December 2020

Porokeratosis [correction of Parakeratosis] Mibelli and skin carcinoma: a critical review

1 reference

12 December 2020

A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2409

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30 May 2018

1 reference

30 May 2018