(Q33905114)

English

Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and

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scholarly article

1 reference

Europe PubMed Central

29 July 2017

Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and (English)

1 reference

Europe PubMed Central

29 July 2017

author name string

Sarah J Rickard

1

1 reference

Europe PubMed Central

29 July 2017

Louise C Wilson

2

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

6 March 2003

1 reference

Europe PubMed Central

29 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

29 July 2017

72

1 reference

Europe PubMed Central

29 July 2017

4

1 reference

Europe PubMed Central

29 July 2017

961-974

1 reference

Europe PubMed Central

29 July 2017

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Activating and inactivating mutations in the human GNAS1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

An imprinted antisense transcript at the human GNAS1 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Mutagenesis of the conserved residue Glu259 of Gsalpha demonstrates the importance of interactions between switches 2 and 3 for activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

GTP-binding proteins. 1: heterotrimeric G proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Neural expression of a novel alternatively spliced and polyadenylated Gs alpha transcript.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Imprinting in Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Deficient Activity of Receptor-Cyclase Coupling Protein in Transformed Lymphoblasts of Patients with Pseudohypoparathyroidism, Type I*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Fibroblast Defect in Pseudohypoparathyroidism, Type I: Reduced Activity of Receptor-Cyclase Coupling Protein*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

Isolation and characterization of the human Gs alpha gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

28 July 2018

The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

29 October 2018

Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

29 October 2018

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180358

29 October 2018

GNAS1 mutational analysis in pseudohypoparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense-mediated mRNA decay

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The target sets the tempo

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12624854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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