Pseudohypoparathyroidism: one gene, several syndromes

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

(2016) Susanne Thiele et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The Prevalence ofGNASDeficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

(2016) Francesca Marta Elli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

(2016) Anne Rochtus et al.   Clinical Epigenetics

Report of two novel mutations inPTHLHassociated with brachydactyly type E and literature review

(2015) Cecile Thomas-Teinturier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)

(2015) Rieko Takatani et al.   BONE

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

(2015) Serap Turan et al.   BONE

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally InheritedGNASDeletion

(2015) Rieko Takatani et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Loss of Methylation atGNASExon A/B Is Associated With Increased Intrauterine Growth

(2015) Anne-Claire Bréhin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypoplastic Metatarsals — Beyond Cosmesis

(2015) Amita Sharma et al.   NEW ENGLAND JOURNAL OF MEDICINE

Heterogeneous phenotype in children affected by non-autoimmune hypothyroidism: an update

(2015) M. C. Vigone et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

GNASMutations in Pseudohypoparathyroidism Type 1a and Related Disorders

(2014) Manuel C. Lemos et al.   HUMAN MUTATION

Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion AblatingSTX16Causes Loss of Imprinting at the A/B DMR

(2014) Francesca M. Elli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TheGNASComplex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene

(2013) Serap Turan et al.   Hormone Research in Paediatrics

Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption

(2013) Serap Turan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PaternalGNASMutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

(2013) Nicolas Richard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

(2012) Caroline Michot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum ofGNASInactivating Mutations

(2012) Francesca Marta Elli et al.   HUMAN MUTATION

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/BGNASand Autosomal Dominant Pseudohypoparathyroidism Type Ib

(2012) Nicolas Richard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q

(2012) A. Dixit et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

(2011) Susanne Thiele et al.   HUMAN MUTATION

Parathyroid hormone signaling via Gαs is selectively inhibited by an NH2-terminally truncated Gαs: Implications for pseudohypoparathyroidism

(2011) Svetlana Puzhko et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

(2011) Celia Zazo et al.   JOURNAL OF BONE AND MINERAL RESEARCH

RecurrentPRKAR1AMutation in Acrodysostosis with Hormone Resistance

(2011) Agnès Linglart et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN 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

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

(2010) S. Maupetit-Mehouas et al.   JOURNAL OF MEDICAL GENETICS

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

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms ofGNAS‐based heterotopic ossification

(2008) N.S. Adegbite et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Maternal Epimutation ofGNASLeads to Albright Osteodystrophy and Parathyroid Hormone Resistance

(2008) Virginie Mariot et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM