The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient (Q47707976)

5 February 2018

title

The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient (English)

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5 February 2018

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3

Elisabetta Pasquini

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5 February 2018

author name string

Sabrina Malvagia

1

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5 February 2018

Giovanni Maria Poggi

2

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5 February 2018

Maria Alice Donati

4

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5 February 2018

Ivana Pela

5

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5 February 2018

Amelia Morrone

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5 February 2018

Enrico Zammarchi

7

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language of work or name

English

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publication date

6 August 2003

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5 February 2018

published in

Pediatric Research

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5 February 2018

volume

54

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5 February 2018

issue

5

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5 February 2018

page(s)

635-640

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5 February 2018

Identification of a novel zinc finger protein binding a conserved element critical for Pit-1-dependent growth hormone gene expression

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LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes

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The Pit-1 homeodomain and beta-domain interact with Ets-1 and modulate synergistic activation of the rat prolactin promoter

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Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors

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Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1

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Structure of Pit-1 POU domain bound to DNA as a dimer: unexpected arrangement and flexibility

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Allosteric effects of Pit-1 DNA sites on long-term repression in cell type specification

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Nuclear factor 1 regulates the distal silencer of the human PIT1/GHF1 gene

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Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency

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A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency

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Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene

21 January 2018

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10.1203/01.PDR.0000084113.41375.1E

21 January 2018

Identifiers

DOI

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5 February 2018

Dimensions Publication ID

1010577903

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5 February 2018