(Q53975068)

23 May 2018

title

Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. (English)

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23 May 2018

Albright's hereditary osteodystrophy

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1 reference

Sharon H M Lim

1

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23 May 2018

Larry K S Poh

2

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23 May 2018

Chris T Cowell

3

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23 May 2018

Beng-Hea Tey

4

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23 May 2018

Kah-Yin Loke

5

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23 May 2018

publication date

1 March 2002

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23 May 2018

Journal of Pediatric Endocrinology and Metabolism

published in

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23 May 2018

volume

15

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23 May 2018

issue

3

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23 May 2018

page(s)

259-268

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23 May 2018

Effects of retinoic acid on steroid and vitamin D3 receptors in cultured mouse osteosarcoma cells

cites work

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodyst

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Isolation and characterization of the human Gs alpha gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Imprinting in Albright's hereditary osteodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Mutations at the domain interface of GSalpha impair receptor-mediated activation by altering receptor and guanine nucleotide binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Platelet signal transduction defect with Galpha subunit dysfunction and diminished Galphaq in a patient with abnormal platelet responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

Conditional activation defect of a human Gsalpha mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

A Gsalpha mutant designed to inhibit receptor signaling through Gs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2002.15.3.259

10.1515/JPEM.2002.15.3.259

21 January 2018

Identifiers

DOI

1 reference

23 May 2018

1 reference

23 May 2018