Evidence map›Paper›PMID 40892461›Full record

ArticleJCI insight2025

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.

Yorihiro Iwasaki, Monica Reyes, Arnaud Molin, Mari Muurinen, Marie-Laure Kottler, Murat Bastepe, Harald Jüppner

Abstract read
In one paragraph

Article in JCI insight, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Yorihiro IwasakiEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Monica ReyesEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Arnaud MolinDepartment of Genetics, Centre Hospitalier Universitaire, Caen, France.
Mari MuurinenHelsinki University Hospital and Folkhälsan Institute of Genetics, Helsinki, Finland.
Marie-Laure KottlerDepartment of Genetics, Centre Hospitalier Universitaire, Caen, France.
Murat BastepeEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Harald JüppnerEndocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Funding

PTH/PTHRP RECEPTOR DEFECTS IN PSEUDOHYPOPARATHYROIDISMR01DK046718 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI JUEPPNER, HARALD W. · 1993 to 2024
$6.0M
Control of allelic Gsα expression for regulating hormone signalingR01DK140244 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MURAT BASTEPE · 2024 to 2026
$2.1M
NIDDK NIH HHS R01 DK046718NIDDK NIH HHS R01 DK140244
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Bone diseaseEndocrinologyGeneticsG proteinsImprinting

Identifiers

PMID40892461
PMCPMC12513475

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.