(Q38322722)

2 September 2017

title

Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance (English)

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2 September 2017

Sakurai A

1

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2 September 2017

Miyamoto T

series ordinal

2

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2 September 2017

Hughes IA

series ordinal

3

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2 September 2017

DeGroot LJ

series ordinal

4

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2 September 2017

publication date

1 January 1993

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2 September 2017

published in

Clinical Endocrinology

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2 September 2017

volume

38

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2 September 2017

issue

1

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2 September 2017

page(s)

29-38

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Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

The thyroid hormone receptor binds with opposite transcriptional effects to a common sequence motif in thyroid hormone and estrogen response elements

21 January 2018

1 reference

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Mechanisms of nuclear localization of the progesterone receptor: evidence for interaction between monomers

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Identification of a thyroid hormone receptor that is pituitary-specific

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Characterization of nuclear thyroid hormone receptors of cultured skin fibroblasts from patients with resistance to thyroid hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Structural analysis of human thyroid hormone receptor beta gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

The c-erb-A gene encodes a thyroid hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1993.TB00969.X

10.1111/J.1365-2265.1993.TB00969.X

21 January 2018

Identifiers

DOI

1 reference

2 September 2017

1 reference