(Q54401186)

29 May 2018

title

Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients. (English)

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29 May 2018

main subject

Peutz-Jeghers syndrome

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Huan-Huan Wang

1

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29 May 2018

Na-Na Xie

2

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29 May 2018

Qi-Yuan Li

3

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29 May 2018

Yi-Qun Hu

4

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29 May 2018

Jian-Lin Ren

5

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29 May 2018

Bayasi Guleng

6

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29 May 2018

publication date

24 October 2013

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29 May 2018

Digestive Diseases and Sciences

published in

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29 May 2018

volume

59

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29 May 2018

issue

1

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29 May 2018

page(s)

64-71

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29 May 2018

https://scigraph.springernature.com/pub.10.1007/s10620-013-2875-7

exact match

0 references

cites work

Mutations in the human LKB1/STK11 gene

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Heritable colorectal cancer syndromes: recognition and preventive management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Peutz-Jeghers syndrome in children: report of two cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

The hamartomatous polyposis syndromes: a clinical and molecular review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Very high risk of cancer in familial Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Increased risk for cancer in patients with the Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Increased risk of cancer in the Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Genetic testing in colorectal cancer: who, when, how and why.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

LKB1 signaling in mesenchymal cells required for suppression of gastrointestinal polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Peutz-Jeghers syndrome: clinicopathology and molecular alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

The mTOR pathway and its role in human genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Unregulated smooth-muscle myosin in human intestinal neoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

De novo assembly of human genomes with massively parallel short read sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Integrating common and rare genetic variation in diverse human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Enterochromaffin cells of the human gut: sensors for spices and odorants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Luminal regulation of normal and neoplastic human EC cell serotonin release is mediated by bile salts, amines, tastants, and olfactants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Processing, localization and binding activity of zonadhesin suggest a function in sperm adhesion to the zona pellucida during exocytosis of the acrosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Screening and surveillance approaches in familial pancreatic cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Caffeic acid phenethyl ester induces apoptosis of human pancreatic cancer cells involving caspase and mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10620-013-2875-7

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

21 January 2018

1 reference

12 December 2020

International registries of families at high risk of pancreatic cancer.

1 reference

12 December 2020

High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations

1 reference

12 December 2020

Genetic heterogeneity in Peutz-Jeghers syndrome

1 reference

12 December 2020

Ultraconserved elements anchor thousands of genetic markers spanning multiple evolutionary timescales

1 reference

12 December 2020

Hamartomatous polyposis syndromes

1 reference

12 December 2020

A map of human genome variation from population-scale sequencing

1 reference

12 December 2020

Effects of luminal thymol on epithelial transport in human and rat colon

1 reference

12 December 2020

Differentially expressed miRNAs in the plasma may provide a molecular signature for aggressive pancreatic cancer

1 reference

12 December 2020

10.1007/S10620-013-2875-7

Identifiers

DOI

1 reference

29 May 2018

release_c42kprcfoncydjmysztsrxbvru

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c42kprcfoncydjmysztsrxbvru

24 November 2022

mapped directly with Wikidata item

PubMed ID

24154639

1 reference

29 May 2018