A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction (Q24681401)

ORCID Public Data File 2021

Verónica Mericq

1 reference

ORCID Public Data File 2021

Mehul T Dattani

9

object named as

Mehul T Dattani

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author name string

Luciani R Carvalho

1

0 references

Kathryn S Woods

2

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Berenice B Mendonca

3

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Nathalie Marcal

4

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Andrea L Zamparini

5

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Joshua M Brickman

7

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Ivo J P Arnhold

Journal of Clinical Investigation

8

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language of work or name

English

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publication date

October 2003

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published in

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volume

112

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issue

8

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page(s)

1192-201

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cites work

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Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

7 April 2017

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Human homologs of a Drosophila Enhancer of split gene product define a novel family of nuclear proteins

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Hex is a transcriptional repressor that contributes to anterior identity and suppresses Spemann organiser function

7 April 2017

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Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

7 April 2017

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SAP30, a component of the mSin3 corepressor complex involved in N-CoR-mediated repression by specific transcription factors

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Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders

7 April 2017

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Association with the nuclear matrix and interaction with Groucho and RUNX proteins regulate the transcription repression activity of the basic helix loop helix factor Hes1

7 April 2017

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The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formation

7 April 2017

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Groucho/TLE family proteins and transcriptional repression

7 April 2017

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Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient

7 April 2017

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Role for Hes1-induced phosphorylation in Groucho-mediated transcriptional repression

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Interactions between an HMG-1 protein and members of the Rel family

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A conserved motif in goosecoid mediates groucho-dependent repression in Drosophila embryos

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Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators.

28 September 2017

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Groucho acts as a corepressor for a subset of negative regulators, including Hairy and Engrailed

28 September 2017

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MR imaging of the pituitary stalk: size, shape, and enhancement pattern

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The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation.

30 May 2018

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Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

30 May 2018

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30 May 2018

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Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

30 May 2018

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Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

28 November 2018

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Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.

28 November 2018

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Nocturnal TSH surge and TRH test response in the evaluation of thyroid axis in hypothalamic pituitary disorders in childhood

28 November 2018

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