Deletion of the NoncodingGNASAntisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects ofGNASMethylationin cis

Author:

Chillambhi Smitha12,Turan Serap13,Hwang Daw-Yang4,Chen Hung-Chun4,Jüppner Harald12,Bastepe Murat1

Affiliation:

1. Endocrine Unit (S.C., S.T., H.J., M.B.), Department of Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114;

2. Department of Medicine, and Pediatric Nephrology Unit (S.C., H.J.), Department of Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114;

3. Department of Pediatric Endocrinology (S.T.), Marmara University School of Medicine, 34722 Istanbul, Turkey;

4. Department of Nephrology (D.-Y.H., H.-C.C.), Kaohsiung Medical University Hospital, Kaohsiung Medical University, 80708 Kaohsiung, Taiwan

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Genomic imprinting mechanisms in mammals.;Ideraabdullah;Mutat Res,2008

2. Genomic imprinting: roles and regulation in development.;Kelsey;Endocr Dev,2007

3. Mechanisms regulating imprinted genes in clusters.;Edwards;Curr Opin Cell Biol,2007

4. GNAS: normal and abnormal functions.;Weinstein;Endocrinology,2004

5. Control of imprinting at the Gnas cluster.;Peters;Adv Exp Med Biol,2008

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