Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1148/67.6.845 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Heterodisomy in the locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).
Front Endocrinol (Lausanne)
December 2024
Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.
Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The locus is one of the loci within the genome that is imprinted.
Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae.
Int J Mol Sci
November 2024
Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
(Guanine Nucleotide-Binding Protein, Alpha Stimulating) is a complex gene that encodes the alpha subunit of the stimulatory G protein (Gα), critical for signaling through various G protein-coupled receptors. Inactivating genetic and epigenetic changes in , resulting in Gα deficiency, cause different variants of pseudohypoparathyroidism, which may manifest features of Albright hereditary osteodystrophy (AHO, a syndrome characterized by early-onset obesity and other developmental defects). Recent findings have linked Gα deficiency with isolated, severe, early-onset obesity, suggesting it as a potential, underrecognized cause of monogenic, non-syndromic obesity.
View Article and Find Full Text PDFBone Microstructure and Bone Strength Among Patients with Pseudohypoparathyroidism.
Calcif Tissue Int
December 2024
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, No. 1 Shuaifuyuan Wangfujing, Beijing, 100730, China.
The present study aimed to assess bone strength and microstructure in patients with pseudohypoparathyroidism (PHP), nonsurgical HP (NS-HP), and healthy controls. A total of 54 PHP1 patients (14 PHP1a, 40 PHP1b), 54 age-/sex- matched NS-HP patients and 27 age-/sex-matched controls were enrolled. Clinical characteristics, biochemical indices and HR-pQCT indices were respectively collected.
View Article and Find Full Text PDFRecurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.
JCI Insight
December 2024
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Article Synopsis
- - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
- - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
- - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.
Int J Mol Sci
October 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710000, China.
Article Synopsis
- - Fahr's syndrome is a rare neurodegenerative disorder with under-explored oral manifestations; this study examines the dental features and genetic aspects using a specific patient case and literature review.
- - The examined patient exhibited several dental issues, including extra teeth, missing teeth, and enamel problems, but genetic testing did not identify known mutations linked to her conditions.
- - A review of previous cases revealed that patients with Fahr's syndrome and related disorders share common oral problems, suggesting that dental anomalies may be significant features in understanding these conditions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!