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

Authors

Murat Bastepe (ORCID: https://orcid.org/0000-0002-2643-3504)
Mari Muurinen (ORCID: https://orcid.org/0009-0008-5595-4334)
Arnaud Molin (ORCID: https://orcid.org/0000-0003-0520-2800)
Yorihiro Iwasaki (ORCID: https://orcid.org/0000-0001-9787-7922)
Harald Jüppner
Marie-Laure Kottler (ORCID: https://orcid.org/0000-0003-3192-9851)
Monica Reyes

Institutions

Boston University (US)
Harvard University (US)
Massachusetts General Hospital (US)
Centre Hospitalier Universitaire de Caen Normandie (FR)
Institute of Genetics (HU)
Kitano Hospital (JP)
Folkhälsans Forskningscentrum (FI)
Biologie, Génétique et Thérapies ostéoArticulaires et Respiratoires

Publication Details

Journal: JCI Insight
Published: 2025-09-02
DOI: https://doi.org/10.1172/jci.insight.194754
Citations: 1
Primary Topic: Genetic Syndromes and Imprinting
Type: article
Field-Weighted Citation Impact: 1.82

Funders

Japan Society for the Promotion of Science

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article

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

Murat Bastepe, Mari Muurinen, Arnaud Molin, Yorihiro Iwasaki et al.

Sep 2, 2025

1 citations

JCI Insight

Genetic Syndromes and Imprinting

1.82

article

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

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

September 2, 2025article en

1 citations

Abstract

No abstract available for this paper.

JCI InsightVol. 10(19)

Boston University (US), Harvard University (US), Massachusetts General Hospital (US), Centre Hospitalier Universitaire de Caen Normandie (FR), Institute of Genetics (HU), Kitano Hospital (JP), Folkhälsans Forskningscentrum (FI), Biologie, Génétique et Thérapies ostéoArticulaires et Respiratoires

Japan Society for the Promotion of Science

Openalex Percentile: Top 13%

Genetic Syndromes and Imprinting

1.82

DOI Open Access PDF OpenAlex

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