The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis
Author:
Funder
National Institutes of Health
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/167953/files/pdf
Reference57 articles.
1. Imprinting and the Epigenetic Asymmetry Between Parental Genomes
2. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
3. Genomic Imprinting and Physiological Processes in Mammals
4. Heterotrimeric G proteins in the control of parathyroid hormone actions
5. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
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1. STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B;Journal of Pediatric Endocrinology and Metabolism;2024-07-22
2. Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review;Diabetes, Metabolic Syndrome and Obesity;2024-05
3. GNAS AS2 methylation status enables mechanism-based categorization of Pseudohypoparathyroidism Type 1B;JCI Insight;2024-01-30
4. Human Reproduction and Disturbed Genomic Imprinting;Genes;2024-01-26
5. Editorial: Parathyroid disorders: updates of PTH/serum Ca2+ regulation and therapeutic prospects;Frontiers in Endocrinology;2024-01-16
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