Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis (Q34275682)

1 August 2017

title

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis (English)

1 reference

1 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

germline mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

promoter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

5

Peter L. Nagy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

7

Ronald J. Weigel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

8

James R. Howe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

author name string

Daniel Calva-Cerqueira

1

1 reference

1 August 2017

George Woodfield

3

1 reference

1 August 2017

Sathivel Chinnathambi

4

1 reference

1 August 2017

Joy Larsen-Haidle

6

1 reference

1 August 2017

Fadi S. Dahdaleh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

13 July 2024

language of work or name

1 reference

14 September 2010

1 reference

full work available at URL

1 August 2017

https://academic.oup.com/hmg/article-pdf/19/23/4654/1755756/ddq396.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

http://hmg.oxfordjournals.org/cgi/content/abstract/19/23/4654

13 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20843829/?tool=EBI

13 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20843829/pdf/?tool=EBI

13 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

https://europepmc.org/articles/PMC2972697

13 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

https://europepmc.org/articles/PMC2972697?pdf=render

13 July 2024

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

https://doi.org/10.1093/hmg/ddq396

13 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20843829

http://academic.oup.com/hmg/article-pdf/19/23/4654/1755756/ddq396.pdf

13 July 2024

https://api.crossref.org/works/10.1093/HMG/DDQ396

1 reference

13 July 2024

published in

Human Molecular Genetics

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1 August 2017

volume

19

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1 August 2017

issue

23

1 reference

1 August 2017

page(s)

4654-4662

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Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Joining high-throughput technology with in silico modelling advances genome-wide screening towards targeted discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

MatInspector and beyond: promoter analysis based on transcription factor binding sites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Analysis of transcriptional regulation of the small leucine rich proteoglycans.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Transcriptional regulation of human SREBP-1c (sterol-regulatory-element-binding protein-1c): a key regulator of lipogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Primer3 on the WWW for general users and for biologist programmers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

A simple salting out procedure for extracting DNA from human nucleated cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Colorectal neoplasia in juvenile polyposis or juvenile polyps

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ396

Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ396

ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ396

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ396

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2972697

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

28 October 2018

1 reference

12 December 2020

Malignant potential in intestinal juvenile polyposis syndromes

1 reference

12 December 2020

Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family

1 reference

12 December 2020

The risk of gastrointestinal carcinoma in familial juvenile polyposis

1 reference

12 December 2020

Germline hMSH2 promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOH

1 reference

12 December 2020

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

1 reference

12 December 2020

Bulletin of the World Health Organization

1

68

655

1993

1 reference

https://api.crossref.org/works/10.1093/HMG/DDQ396

Methods in Molecular Biology

13 July 2024

21

132

365

Rozen

2000

1 reference

https://api.crossref.org/works/10.1093/HMG/DDQ396

13 July 2024

Identifiers

DOI

10.1093/HMG/DDQ396

1 reference

1 August 2017

1 reference

1 August 2017

1 reference