Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene (Q28207803)

1

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10 September 2022

Miyai K

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10 September 2022

Notomi T

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10 September 2022

Kaibe K

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10 September 2022

Amino N

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10 September 2022

Mizuno Y

6

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10 September 2022

Kohno H

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https://scigraph.springernature.com/pub.10.1038/ng0492-56

10 September 2022

language of work or name

English

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publication date

April 1992

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published in

Nature Genetics

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volume

1

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page(s)

56-8

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issue

1

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exact match

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cites work

The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein

1 reference

Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1

21 April 2017

1 reference

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

21 April 2017

1 reference

Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1

21 April 2017

1 reference

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

21 April 2017

1 reference

Mouse small eye results from mutations in a paired-like homeobox-containing gene

21 April 2017

1 reference

Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.

21 April 2017

1 reference

A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype.

21 January 2018

1 reference

Regulation of transcription and cell identity by POU domain proteins

21 January 2018

1 reference

Dissection of functional domains of the pituitary-specific transcription factor GHF-1.

21 January 2018

1 reference

The POU-specific domain of Pit-1 is essential for sequence-specific, high affinity DNA binding and DNA-dependent Pit-1-Pit-1 interactions

21 January 2018

1 reference

Genetic evidence equating SRY and the testis-determining factor

21 January 2018

1 reference

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

21 January 2018

1 reference

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

1 reference

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

21 January 2018

1 reference

A functional c-myb gene is required for normal murine fetal hepatic hematopoiesis

21 January 2018

1 reference

Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5

21 January 2018

1 reference

Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression

21 January 2018

1 reference

Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6

21 January 2018

1 reference

Brain development in dwarf mice

21 January 2018

1 reference

Familial isolated thyrotropin deficiency with cretinism

21 January 2018

1 reference

7 January 2021

Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency

1 reference

7 January 2021

Pituitary cretinism in two sisters

1 reference

7 January 2021

The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products

1 reference

7 January 2021

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

7 January 2021

The molecular basis of the undulated/Pax-1 mutation

1 reference

7 January 2021

Rapid detection of a point mutation in thyroid-stimulating hormoneβ-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency

1 reference

7 January 2021

Improvement of PCR amplified DNA sequencing with the aid of detergents

1 reference

7 January 2021

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism

1 reference

7 January 2021

Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta

1 reference

7 January 2021

A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds

1 reference

7 January 2021

Thyroid hormone and DNA binding properties of a mutant c-erbA beta receptor associated with generalized thyroid hormone resistance.

1 reference

7 January 2021

A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβThyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance

1 reference

7 January 2021

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation

1 reference

7 January 2021

Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone

1 reference

7 January 2021

A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor

1 reference

7 January 2021

Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0492-56

1 reference

Consolidated OpenCitations Corpus – April 2017

2291291

2291291

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference