(Q33522197)

27 July 2017

title

Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability (English)

1 reference

27 July 2017

Anna De Grassi

1

0 references

Francesca D Ciccarelli

Francesca D Ciccarelli

8

0 references

Lucio Bertario

Lucio Bertario

5

0 references

Paolo Radice

Paolo Radice

6

0 references

Fabio Iannelli

3

Fabio Iannelli

1 reference

27 July 2017

4

Sara Volorio

1 reference

27 July 2017

Cinzia Segala

2

1 reference

27 July 2017

Loris Bernard

7

1 reference

27 July 2017

language of work or name

English

0 references

publication date

5 January 2010

1 reference

27 July 2017

1 reference

27 July 2017

volume

8

1 reference

27 July 2017

issue

1

1 reference

27 July 2017

page(s)

e1000275

1 reference

Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

5 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Quantification of rare allelic variants from pooled genomic DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Next-generation DNA sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Transcription factor PROX1 induces colon cancer progression by promoting the transition from benign to highly dysplastic phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

New issues in genetic counseling of hereditary colon cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Molecular testing for microsatellite instability and DNA mismatch repair defects in hereditary and sporadic colorectal cancers--ready for prime time?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Deletion of ultraconserved elements yields viable mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Ultraconserved regions encoding ncRNAs are altered in human leukemias and carcinomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Human genome ultraconserved elements are ultraselected

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Accuracy and quality of massively parallel DNA pyrosequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Characterization of mutation spectra with ultra-deep pyrosequencing: application to HIV-1 drug resistance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Epigenetic silencing of the candidate tumor suppressor gene PROX1 in sporadic breast cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Patterns of somatic mutation in human cancer genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

In vivo enhancer analysis of human conserved non-coding sequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

A homeobox protein, prox1, is involved in the differentiation, proliferation, and prognosis in hepatocellular carcinoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Role of lymphangiogenesis and lymphangiogenic factors during pancreatic cancer progression and lymphatic spread

28 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

28 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Genetic predisposition to colorectal cancer

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Ultraconserved Elements in the Human Genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mutations and aberrant DNA methylation of the PROX1 gene in hematologic malignancies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Fidelity and Mutational Spectrum of Pfu DNA Polymerase on a Human Mitochondrial DNA Sequence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mutations predisposing to hereditary nonpolyposis colorectal cancer

28 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

28 July 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Hypermutability and mismatch repair deficiency in RER+ tumor cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mutation of a mutL homolog in hereditary colon cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

A rapid PCR fidelity assay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mismatch Repair Deficiency in Phenotypically Normal Human Cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Mutator phenotype may be required for multistage carcinogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

The genomic landscapes of human breast and colorectal cancers

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

An integrated genomic analysis of human glioblastoma multiforme

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Quantification of random genomic mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

BEAMing up for detection and quantification of rare sequence variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Aligning multiple genomic sequences with the threaded blockset aligner

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Cloning and expression in Escherichia coli of the recombinant his-tagged DNA polymerases from Pyrococcus furiosus and Pyrococcus woesei

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Ultraconservation identifies a small subset of extremely constrained developmental enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Conserved noncoding sequences are selectively constrained and not mutation cold spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Genome sequencing in microfabricated high-density picolitre reactors

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794366

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

31 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Causes of microsatellite instability in colorectal tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000275

Hereditary colorectal cancer

21 January 2018

1 reference

12 December 2020

Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients

1 reference

12 December 2020

Semiautomated assessment of loss of heterozygosity and replication error in tumors

1 reference

12 December 2020

Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing

1 reference

12 December 2020

SNPs in ultraconserved elements and familial breast cancer risk

1 reference

12 December 2020

10.1371/JOURNAL.PBIO.1000275

Identifiers

DOI

1 reference

27 July 2017

1 reference

27 July 2017

1 reference