T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. (Q34102788)

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13 February 2020

title

T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6 (English)

1 reference

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13 February 2020

1 reference

lymphoblastic leukemia

1 reference

T-cell acute lymphoblastic leukemia

inferred from title

1 reference

Matthew Andrew Melville Todd

inferred from title

author

2

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13 February 2020

author name string

Mwe Mwe Chao

1

1 reference

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13 February 2020

Udo Kontny

3

1 reference

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13 February 2020

Katherine Neas

4

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13 February 2020

Michael J Sullivan

5

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13 February 2020

Alasdair G Hunter

6

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13 February 2020

David J Picketts

7

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13 February 2020

Christian P Kratz

8

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13 February 2020

publication date

1 October 2010

1 reference

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13 February 2020

published in

Pediatric Blood Cancer

1 reference

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13 February 2020

volume

55

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13 February 2020

issue

4

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13 February 2020

page(s)

722-724

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Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

NOTCH1 directly regulates c-MYC and activates a feed-forward-loop transcriptional network promoting leukemic cell growth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Germline KRAS mutations cause Noonan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Germline mutations in HRAS proto-oncogene cause Costello syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Mutations in the chromatin-associated protein ATRX.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933084

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20806366

12 December 2020

inferred from PubMed ID database lookup

Chromosomal changes pattern and gene amplification in T cell non-Hodgkin's lymphomas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20806366

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/PBC.22574

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20806366%20AND%20SRC:MED&resulttype=core&format=json

release_r5nl3hvazzbt5pna7wazj5ukki

13 February 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/r5nl3hvazzbt5pna7wazj5ukki

24 November 2022

mapped directly with Wikidata item

1 reference

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13 February 2020

PubMed publication ID

20806366

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20806366%20AND%20SRC:MED&resulttype=core&format=json