Evaluation of NSD2 and NSD3 in overgrowth syndromes (Q57272214)

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4 January 2020

title

Evaluation of NSD2 and NSD3 in overgrowth syndromes (English)

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5

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Nazneen Rahman

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author name string

Jenny Douglas

1

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Kim Coleman

2

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Katrina Tatton-Brown

3

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Helen E Hughes

4

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Trevor R P Cole

6

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4 January 2020

Childhood Overgrowth Collaboration

8

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publication date

1 February 2005

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European Journal of Human Genetics

4 January 2020

published in

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volume

13

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page(s)

150-153

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issue

2

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201298

4 January 2020

exact match

0 references

cites work

Sotos syndrome: a study of the diagnostic criteria and natural history

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

An update on conformation sensitive gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Phosphorylation of RNA polymerase II CTD regulates H3 methylation in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Mitotic-specific methylation of histone H4 Lys 20 follows increased PR-Set7 expression and its localization to mitotic chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201298

inferred from DOI database lookup

7 January 2021

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Identifiers

DOI

10.1038/SJ.EJHG.5201298

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4 January 2020

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