(Q37149603)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

intrauterine growth restriction

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

5

Harald Jüppner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

6

Marie-Laure Kottler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Arnaud Molin

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Nadia Coudray

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Pauline Rault-Guillaume

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

language of work or name

English

0 references

publication date

24 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

6 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

E1549-56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.

6 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Paternally inherited gsα mutation impairs adipogenesis and potentiates a lean phenotype in vivo

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Review: Spatiotemporal dynamics of hCG/cAMP signaling and regulation of placental function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Progressive osseous heteroplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Genomic imprinting in mammalian development: a parental tug-of-war

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Reference values for singleton and twin placental weights.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

[Fetal growth from the AUDIPOG study. II. Application for the diagnosis of intrauterine growth retardation]

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Novel role of human chorionic gonadotropin in differentiation of human cytotrophoblasts

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

A distinct microvascular endothelial gene expression profile in severe IUGR placentas.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Unbalanced placental expression of imprinted genes in human intrauterine growth restriction.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3763972

Cyclic AMP-dependent protein kinases and human trophoblast cell differentiation in vitro

3 September 2018

1 reference

12 December 2020

Biochemical characterization and modulation of LH/CG-receptor during human trophoblast differentiation

1 reference

12 December 2020

Intrauterine growth restriction: definition and etiology

1 reference

12 December 2020

Re-investigation and RNA sequencing-based identification of genes with placenta-specific imprinted expression

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2013-1667

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

release_zh3jcfzcbzhcxa5op2q2gpqdfy

6 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zh3jcfzcbzhcxa5op2q2gpqdfy

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23884777%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

23884777

1 reference