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Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 404, doi. 10.1159/000534456
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- Publication type:
- Article
Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2021.680537
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- Publication type:
- Article
Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. e947, doi. 10.1210/clinem/dgab801
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- Publication type:
- Article
Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.680537
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- Publication type:
- Article
XLα<sub>s</sub> is a novel activator of PLCβ4.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.03060
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- Publication type:
- Article
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 182, doi. 10.1159/000508985
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- Publication type:
- Article
Extra-Large Gα Protein (XLαs) Deficiency Causes Severe Adenine-Induced Renal Injury with Massive FGF23 Elevation.
- Published in:
- Endocrinology, 2020, v. 161, n. 1, p. 1, doi. 10.1210/endocr/bqz025
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- Publication type:
- Article
A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner.
- Published in:
- 2018
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- Publication type:
- journal article
Tricho-Rhino-Phalangeal Syndrome is a Rare Presentation of Brachydactyly.
- Published in:
- Turkish Journal of Endocrinology & Metabolism, 2018, v. 22, n. Supp, p. S65, doi. 10.25179/tjem.20182202-P204
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- Publication type:
- Article
A Novel T55A Variant of G<sub>s</sub>α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.
- Published in:
- Case Reports in Endocrinology, 2016, p. 1, doi. 10.1155/2016/2691385
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- Publication type:
- Article
The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo.
- Published in:
- Science Signaling, 2015, v. 8, n. 391, p. 1, doi. 10.1126/scisignal.aaa9953
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- Publication type:
- Article
GNAS Spectrum of Disorders.
- Published in:
- Current Osteoporosis Reports, 2015, v. 13, n. 3, p. 146, doi. 10.1007/s11914-015-0268-x
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- Publication type:
- Article
Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption.
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- Journal of Bone & Mineral Research, 2014, v. 29, n. 3, p. 749, doi. 10.1002/jbmr.2070
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- Publication type:
- Article
The GNAS Complex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 229, doi. 10.1159/000355384
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- Publication type:
- Article
The β-blocker Nebivolol Is a GRK/β-arrestin Biased Agonist.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071980
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- Publication type:
- Article
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.
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- 2012
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- Publication type:
- journal article
Parathyroid hormone signaling via Gαs is selectively inhibited by an NH<sub>2</sub>-terminally truncated Gαs: Implications for pseudohypoparathyroidism.
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- Journal of Bone & Mineral Research, 2011, v. 26, n. 10, p. 2473, doi. 10.1002/jbmr.461
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- Publication type:
- Article
Gsα enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice.
- Published in:
- 2011
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- Publication type:
- journal article
Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1854, doi. 10.1002/jbmr.408
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- Publication type:
- Article
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 653, doi. 10.1002/humu.21489
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- Publication type:
- Article
Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 10, p. 2165, doi. 10.1002/jbmr.105
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- Publication type:
- Article
Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.
- Published in:
- 2010
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- Publication type:
- journal article
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
- Published in:
- 2010
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- Publication type:
- journal article
Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 6, p. 822, doi. 10.1111/j.1365-2265.2007.02969.x
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- Publication type:
- Article
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 6, p. 2370, doi. 10.1210/jc.2006-2287
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- Publication type:
- Article
Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCR.
- Published in:
- EMBO Journal, 2007, v. 26, n. 1, p. 53, doi. 10.1038/sj.emboj.7601502
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- Publication type:
- Article
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 11, p. 1248, doi. 10.1038/ng1868
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- Publication type:
- Article
Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus.
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- Annals of the New York Academy of Sciences, 2006, v. 1068, n. 1, p. 250, doi. 10.1196/annals.1346.029
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- Publication type:
- Article
Different Mutations Within or Upstream of the GNAS Locus Cause Distinct Forms of Pseudohypoparathyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, p. 641, doi. 10.1515/jpem.2006.19.s2.641
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- Publication type:
- Article
A rapid microarray based whole genome analysis for detection of uniparental disomy.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 153, doi. 10.1002/humu.20198
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- Publication type:
- Article
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
- Published in:
- 2005
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- Publication type:
- journal article
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
- Published in:
- Nature Genetics, 2005, v. 37, n. 1, p. 25, doi. 10.1038/ng1487
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- Publication type:
- Article
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.
- Published in:
- 2004
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- Publication type:
- journal article
A Form of Jansen's Metaphyseal Chondrodysplasia with Limited Metabolic and Skeletal Abnormalities Is Caused by a Novel Activating Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3595, doi. 10.1210/jc.2004-0036
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- Publication type:
- Article
Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.
- Published in:
- 2003
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- Publication type:
- editorial
Identification of a region of the C-terminal domain involved in short-term desensitization of the prostaglandin EP4 receptor.
- Published in:
- 1999
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- Publication type:
- journal article