Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy-Reference-Cited by-同舟云学术

Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

Published:2007-06-01 Issue:6 Volume:92 Page:2370-2373
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

de Nanclares Guiomar Pérez¹,Fernández-Rebollo Eduardo¹,Santin Izortze¹,García-Cuartero Beatriz²,Gaztambide Sonia¹³,Menéndez Edelmiro⁴,Morales Maria Jose⁵,Pombo Manuel⁶,Bilbao José Ramón¹³,Barros Francisco⁷,Zazo Nuria¹,Ahrens Wiebke⁸,Jüppner Harald⁹,Hiort Olaf⁸,Castaño Luis¹³,Bastepe Murat⁹

Affiliation:

1. Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain

2. Pediatric Endocrinology Unit (B.G.-C.), Severo Ochoa Hospital, Leganés, 28911 Madrid, Spain

3. Department of Medicine, Nursing, and Pediatrics (S.G., J.R.B., L.C.), University of Basque Country, 48940 Leioa, Bizkaia, Spain

4. Department of Endocrinology Service (E.M.), Hospital de Navarra, 31080 Pamplona, Spain

5. Department of Endocrinology Service (M.J.M.), Hospital do Meixoeiro, 36200 Viga, Pontevedra, Spain

6. Pediatric Endocrinology, Growth, and Adolescence Unit (M.P.), Clinical University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain

7. Fundación Pública Galega de Medicina Xenómica (F.B.), 15706 Santiago de Compostela, A Coruña, Spain

8. Department of Pediatric and Adolescent Medicine (W.A., O.H.), University of Lübeck, 23538 Lübeck, Germany

9. Endocrine Unit (H.J., M.B.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/92/6/2370/10780655/jcem2370.pdf

Reference20 articles.

1. Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting.;Weinstein;Endocr Rev,2001

2. Pseudohypoparathyroidism;Levine;In: Principles of bone biology. Bilezikian JP, Raisz LG, Rodan GA, eds. New York: Academic Press;,2002

3. The stimulatory G protein α-subunit Gsα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.;Liu;J Clin Endocrinol Metab,2003

4. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.;Liu;J Clin Invest,2000

5. 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.;Bastepe;Hum Mol Genet,2001

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