(Q48697407)

14 February 2018

title

A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse. (English)

1 reference

14 February 2018

main subject

knockout mouse

0 references

malformation syndrome

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Sohei Kitazawa

1

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author name string

Takeshi Kondo

2

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14 February 2018

Kiyoshi Mori

3

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14 February 2018

Naoki Yokoyama

4

1 reference

14 February 2018

Masafumi Matsuo

5

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14 February 2018

Riko Kitazawa

6

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14 February 2018

publication date

14 February 2012

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14 February 2018

published in

Human Mutation

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14 February 2018

volume

33

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14 February 2018

issue

4

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14 February 2018

page(s)

651-654

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14 February 2018

CBP and histone deacetylase inhibition enhance the transactivation potential of the HOXB7 homeodomain-containing protein

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Protein structure prediction on the Web: a case study using the Phyre server

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Rubinstein-Taybi Syndrome with thymic hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

CBP/p300 are bimodal regulators of Wnt signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Conformational preferences in the Ser133-phosphorylated and non-phosphorylated forms of the kinase inducible transactivation domain of CREB

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Rubinstein-Taybi syndrome: clinical and molecular overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Impaired fetal T cell development and perinatal lethality in mice lacking the cAMP response element binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

Dominant negative mutant forms of the cAMP response element binding protein induce apoptosis and decrease the anti-apoptotic action of growth factors in human islets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

DNA binding and phosphorylation induce conformational alterations in the kinase-inducible domain of CREB. Implications for the mechanism of transcription function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22027

21 January 2018

Identifiers

DOI

10.1002/HUMU.22027

1 reference

14 February 2018

PubMed ID

22267179

1 reference

14 February 2018