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GNAS mutations and heterotopic ossification

Bone (New York, N.Y.), 2018-04, Vol.109, p.80-85

Bastepe, Murat

2018

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The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis

The Journal of clinical investigation, 2023-04, Vol.133 (8), p.1-14

2023

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The GNAS Locus: Quintessential Complex Gene Encoding Gsα, XLαs, and other Imprinted Transcripts

Current genomics, 2007-09, Vol.8 (6), p.398-414

Bastepe, Murat

2007

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GNAS locus and pseudohypoparathyroidism

Hormone research, 2005-01, Vol.63 (2), p.65-74

2005

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Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

Reviews in endocrine & metabolic disorders, 2008-06, Vol.9 (2), p.171-180

2008

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

Nature genetics, 2006-11, Vol.38 (11), p.1248-1250

2006

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A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner

The journal of clinical endocrinology and metabolism, 2018-09, Vol.103 (9), p.3514-3515

Bastepe, Murat

2018

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GNAS Spectrum of Disorders

Current osteoporosis reports, 2015-06, Vol.13 (3), p.146-158

2015

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The β-blocker Nebivolol Is a GRK/β-arrestin biased agonist

PloS one, 2013-08, Vol.8 (8), p.e71980-e71980

2013

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Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth

Bone (New York, N.Y.), 2018-05, Vol.110, p.230-237

2018

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

American journal of human genetics, 2005-05, Vol.76 (5), p.804-814

2005

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1,25-Dihydroxyvitamin D3 regulates furin-mediated FGF23 cleavage

JCI insight, 2023-09, Vol.8 (17)

2023

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Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner

Frontiers in genetics, 2021-06, Vol.12, p.680537-680537

2021

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Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)

Bone (New York, N.Y.), 2011-03, Vol.48 (3), p.659-662

2011

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Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Nature genetics, 2005-01, Vol.37 (1), p.25-27

2005

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The GNAS locus and pseudohypoparathyroidism

Advances in experimental medicine and biology, 2008, Vol.626, p.27

Bastepe, Murat

2008

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Amyloid-β neuropathology induces bone loss in male mice by suppressing bone formation and enhancing bone resorption

Bone Reports, 2024-06, Vol.21, p.101771, Article 101771

2024

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Stimulatory G Protein Directly Regulates Hypertrophic Differentiation of Growth Plate Cartilage in vivo

Proceedings of the National Academy of Sciences - PNAS, 2004-10, Vol.101 (41), p.14794-14799

2004

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Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib

Proceedings of the National Academy of Sciences - PNAS, 2010-05, Vol.107 (20), p.9275-9280

2010

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Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Journal of bone and mineral research, 2010-10, Vol.25 (10), p.2165-2174

2010

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Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

American journal of human genetics, 2001-05, Vol.68 (5), p.1283-1289

2001

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

The Journal of clinical investigation, 2005-05, Vol.115 (5), p.1250-1257

2005

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

Hormone research in paediatrics, 2013-01, Vol.80 (4), p.229-241

2013

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Secondary ossification center protects growth plate chondrocytes from mechanical stress

Bone Reports, 2020-10, Vol.13, p.100663, Article 100663

2020

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Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib

Proceedings of the National Academy of Sciences - PNAS, 2012-04, Vol.109 (17), p.6638-6643

2012

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GNAS mutations and heterotopic ossification

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis

The GNAS Locus: Quintessential Complex Gene Encoding Gsα, XLαs, and other Imprinted Transcripts

GNAS locus and pseudohypoparathyroidism

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner

GNAS Spectrum of Disorders

The β-blocker Nebivolol Is a GRK/β-arrestin biased agonist

Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth

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

1,25-Dihydroxyvitamin D3 regulates furin-mediated FGF23 cleavage

Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

The GNAS locus and pseudohypoparathyroidism

Amyloid-β neuropathology induces bone loss in male mice by suppressing bone formation and enhancing bone resorption

Stimulatory G Protein Directly Regulates Hypertrophic Differentiation of Growth Plate Cartilage in vivo

Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib

Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

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

Secondary ossification center protects growth plate chondrocytes from mechanical stress

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib

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