(Q51850327)

14 April 2018

title

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. (English)

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14 April 2018

author

Paul Le Tissier

5

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author name string

J P Turton

1

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14 April 2018

M Strom

2

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S Langham

3

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M T Dattani

4

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14 April 2018

publication date

1 March 2012

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published in

Clinical Endocrinology

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14 April 2018

volume

76

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issue

3

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page(s)

387-393

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14 April 2018

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

20S proteasomal degradation of ornithine decarboxylase is regulated by NQO1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

An update on the biochemical diagnosis of congenital ACTH insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

Determinants of the inherent strength of human 5' splice sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04236.X

10.1111/J.1365-2265.2011.04236.X

21 January 2018

Identifiers

DOI

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14 April 2018

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14 April 2018