A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS-Reference-Cited by-同舟云学术

A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

Published:2005-05 Issue:5 Volume:76 Page:804-814
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Linglart Agnès,Gensure Robert C.,Olney Robert C.,Jüppner Harald,Bastepe Murat

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS;Bastepe;J Clin Invest,2003

2. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib;Bastepe;Nat Genet,2005

3. Receptor-mediated adenylyl cyclase activation through XLαs, the extra-large variant of the stimulatory G protein α-subunit;Bastepe;Mol Endocrinol,2002

4. Paternal uniparental isodisomy of chromosome 20q—and the resulting changes in GNAS1 methylation—as a plausible cause of pseudohypoparathyroidism;Bastepe;Am J Hum Genet,2001

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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1. STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B;Journal of Pediatric Endocrinology and Metabolism;2024-07-22

2. GNAS AS2 methylation status enables mechanism-based categorization of Pseudohypoparathyroidism Type 1B;JCI Insight;2024-01-30

3. La résistance hormonale multiple des pseudohypoparathyroïdies;Bulletin de l'Académie Nationale de Médecine;2024-01

4. Exonic copy number variations in rare genetic disorders;Journal of Genetic Medicine;2023-12-31

5. Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion;Journal of Pediatric Endocrinology and Metabolism;2023-12-14