(Q36259714)

English

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

scientific article published on October 1, 2003

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS (English)

1 reference

10.1172/JCI19159

https://api.crossref.org/works/10.1172/JCI19159

21 March 2024

pseudohypoparathyroidism type IB

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

DNA methylation

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

Harald Jüppner

14

object named as

Harald Jüppner

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1

object named as

Murat Bastepe

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Olafur S Indridason

4

object named as

Olafur S Indridason

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Arlan L. Rosenbloom

9

object named as

Arlan L Rosenbloom

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

author name string

Hiroyuki Koshiyama

6

1 reference

Europe PubMed Central

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13 August 2017

Jarmo Körkkö

7

1 reference

Europe PubMed Central

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13 August 2017

Toshitsugu Sugimoto

11

1 reference

Europe PubMed Central

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13 August 2017

Agathocles Tsatsoulis

12

1 reference

Europe PubMed Central

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13 August 2017

Leopold F. Fröhlich

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

Geoffrey N. Hendy

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

Robert G. Josse

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

Jon M. Nakamoto

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

Arnold H. Slyper

10

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

John D. Crawford

13

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

language of work or name

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publication date

1 October 2003

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Europe PubMed Central

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13 August 2017

full work available at URL

http://www.jci.org/articles/view/19159/files/pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

https://europepmc.org/articles/PMC213493

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

https://europepmc.org/articles/PMC213493?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

https://doi.org/10.1172/jci200319159

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14561710

21 March 2024

http://www.jci.org/articles/view/19159/files/pdf

1 reference

10.1172/JCI19159

https://api.crossref.org/works/10.1172/JCI19159

21 March 2024

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

112

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1255-1263

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

The imprinting mechanism of the Prader-Willi/Angelman regional control center

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

Genomic imprinting: parental influence on the genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Prader-Willi and Angelman syndromes: sister imprinted disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

Identification of a methylation imprint mark within the mouse Gnas locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

PipMaker--a web server for aligning two genomic DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Alu repeats and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

Syntaxin-16, a putative Golgi t-SNARE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Cloning of human neuronatin gene and its localization to chromosome-20q 11.2-12: the deduced protein is a novel "proteolipid'

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

XL alpha s is a new type of G protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Parental origin of transcription from 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=213493

30 September 2017

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

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=213493

30 September 2017

Alternative promoter and 5' exon generate a novel Gs alpha mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

Differential expression of novel Gs alpha signal transduction protein cDNA species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

30 September 2017

CpG islands as gene markers in the human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

29 June 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=213493

22 September 2018

A global disorder of imprinting in the human female germ line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

22 September 2018

Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

22 September 2018

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

22 September 2018

Expression of the extra-large G protein alpha-subunit XLalphas in neuroepithelial cells and young neurons during development of the rat nervous system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

22 September 2018

Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=213493

22 September 2018

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

1 reference

https://pubmed.ncbi.nlm.nih.gov/14561710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization

1 reference

https://pubmed.ncbi.nlm.nih.gov/14561710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI19159

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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