Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4221
Abstract: Preferential transmission of a genetic mutation to the next generation, referred to as transmission ratio distortion (TRD), is well established for several dominant disorders, but underlying mechanisms remain undefined. Recently, TRD was reported for patients… read more here.
Keywords: transmission; stx16 gnas; pseudohypoparathyroidism type; mutation ... See more keywords
Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4647
Abstract: Pseudohypoparathyroidism type Ib (PHP1B) is characterized predominantly by resistance to parathyroid hormone (PTH) leading to hypocalcemia and hyperphosphatemia. These laboratory abnormalities are caused by maternal loss‐of‐methylation (LOM) at GNAS exon A/B, which reduces in cis… read more here.
Keywords: type php1b; methylation; php1b; gnas exon ... See more keywords
Impaired amygdala-based learning and decreased anxiety in a murine model of pseudohypoparathyroidism type 1A
Sign Up to like & getrecommendations! Published in 2019 at "Behavioural Brain Research"
DOI: 10.1016/j.bbr.2019.03.041
Abstract: ABSTRACT Pseudohypoparathyroidism type 1A (PHP1A) is a genetic disorder caused by maternally inherited mutations in the gene Gnas. PHP1A is characterized by multiple hormone impairment, early onset obesity and cognitive impairment. Animal models of PHP1A… read more here.
Keywords: based learning; murine; anxiety; murine model ... See more keywords