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Title
Gene Dosage Effects at the Imprinted Gnas Cluster
Authors
Keywords
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Journal
PLoS One
Volume 8, Issue 6, Pages e65639
Publisher
Public Library of Science (PLoS)
Online
2013-06-19
DOI
10.1371/journal.pone.0065639
References
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Related references
Note: Only part of the references are listed.- Relative Functions of Gαs and its Extra Large Variant XLαs in the Endocrine System
- (2012) M Bastepe HORMONE AND METABOLIC RESEARCH
- Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q
- (2012) A. Dixit et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- New Mutations at the Imprinted Gnas Cluster Show Gene Dosage Effects of Gs in Postnatal Growth and Implicate XL s in Bone and Fat Metabolism but Not in Suckling
- (2012) S. A. Eaton et al. MOLECULAR AND CELLULAR BIOLOGY
- Postnatal Changes in the Expression Pattern of the Imprinted Signalling Protein XLαs Underlie the Changing Phenotype of Deficient Mice
- (2012) Stefan O. Krechowec et al. PLoS One
- Loss of XL s (extra-large s) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib
- (2012) E. Fernandez-Rebollo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the GNAS locus
- (2010) Gavin Kelsey AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)
- (2010) Murat Bastepe et al. BONE
- New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
- (2010) Eduardo Fernández-Rebollo et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Deletion of the NoncodingGNASAntisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects ofGNASMethylationin cis
- (2010) Smitha Chillambhi et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients
- (2010) Giovanna Mantovani et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib
- (2010) L. F. Frohlich et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Molecular Diagnosis and Clinical Characterization of Pseudohypoparathyroidism Type-Ib in a Patient With Mild Albright’s Hereditary Osteodystrophy-Like Features, Epileptic Seizures, and Defective Renal Handling of Uric Acid
- (2009) Ugur Unluturk et al. AMERICAN JOURNAL OF THE MEDICAL SCIENCES
- Central Nervous System Imprinting of the G Protein Gsα and Its Role in Metabolic Regulation
- (2009) Min Chen et al. Cell Metabolism
- Extralarge XLαs (XXLαs), a Variant of Stimulatory G Protein α-Subunit (Gsα), Is a Distinct, Membrane-AnchoredGNASProduct that Can Mimic Gsα
- (2009) Cumhur Aydin et al. ENDOCRINOLOGY
- A missense mutation in the non-neural G-protein α-subunit isoforms modulates susceptibility to obesity
- (2009) M L Kelly et al. INTERNATIONAL JOURNAL OF OBESITY
- Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs coding mutations and GNAS imprinting defects
- (2009) B. Lecumberri et al. JOURNAL OF MEDICAL GENETICS
- Severe Obesity and Insulin Resistance due to Deletion of the Maternal Gsα Allele Is Reversed by Paternal Deletion of the Gsα Imprint Control Region
- (2008) Tao Xie et al. ENDOCRINOLOGY
- A Maternal Epimutation ofGNASLeads to Albright Osteodystrophy and Parathyroid Hormone Resistance
- (2008) Virginie Mariot et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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