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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)

Journal of bone and mineral research, 2022-09, Vol.37 (9), p.1711-1719

2022

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Related GPCRs couple differently to Gs: preassociation between G protein and 5‐HT7 serotonin receptor reveals movement of Gαs upon receptor activation

The FASEB journal, 2018-02, Vol.32 (2), p.1059-1069

2018

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Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder

Current issues in molecular biology, 2024-08, Vol.46 (8), p.9093-9121

2024

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Molecular Definition of Pseudohypoparathyroidism Variants

The journal of clinical endocrinology and metabolism, 2021-06, Vol.106 (6), p.1541-1552

Juppner, Harald

2021

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Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia

Journal of bone and mineral research, 2018-01, Vol.33 (1), p.84-90

2018

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GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines

International journal of cancer, 2024-06, Vol.154 (11), p.1987-1998

2024

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Osteosarcoma arising in fibrous dysplasia, confirmed by mutational analysis of GNAS gene

Pathology, research and practice, 2018-02, Vol.214 (2), p.318-324

2018

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A Flexible Caterpillar‐Like Gold Nanoparticle Assemblies with Ultrasmall Nanogaps for Enhanced Dual‐Modal Imaging and Photothermal Therapy

Small (Weinheim an der Bergstrasse, Germany), 2018-05, Vol.14 (19), p.e1800094-n/a

2018

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GNAS knockdown suppresses osteogenic differentiation of mesenchymal stem cells via activation of Hippo signaling pathway

Journal of cellular physiology, 2019-12, Vol.234 (12), p.22299-22310

2019

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Commitment and oncogene-induced plasticity of human stem cell-derived pancreatic acinar and ductal organoids

Cell stem cell, 2021-06, Vol.28 (6), p.1090-1104.e6

2021

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Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions

The journal of clinical endocrinology and metabolism, 2022-02, Vol.107 (2), p.e681-e687

2022

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Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications

The journal of clinical endocrinology and metabolism, 2021-08, Vol.106 (8), p.e3005-e3020

2021

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Pseudohypoparathyroidism: complex disease variants with unfortunate names

Journal of molecular endocrinology, 2024-01, Vol.72 (1)

Jüppner, Harald

2024

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CCL2 mitigates cyclic AMP‐suppressed Th2 immune response in human dendritic cells

Allergy (Copenhagen), 2020-08, Vol.75 (8), p.2108-n/a

2020

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GNAS, GNAQ, and GNA11 alterations in patients with diverse cancers

Cancer, 2018-10, Vol.124 (20), p.4080-4089

2018

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Lectins of the Araceae family: Insights, distinctions, and future avenues—A three-decade investigation

Biochimica et biophysica acta. General subjects, 2024-09, Vol.1868 (9), p.130667, Article 130667

2024

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Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus

Journal of bone and mineral research, 2022-10, Vol.37 (10), p.1850-1859

2022

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GNAS gene mutations affecting XLαs and bone health: A long neglected relationship

Clinical genetics, 2023-09, Vol.104 (3), p.279-286

2023

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Activated AMP-protein kinase (pAMPK) is overexpressed in human somatotroph pituitary adenomas

Molecular and cellular endocrinology, 2024-10, Vol.592, p.112318, Article 112318

2024

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A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs

BMC genomics, 2022-09, Vol.23 (1), p.1-669, Article 669

2022

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Mucinous Adenocarcinoma With Intrapulmonary Metastasis Harboring KRAS and GNAS Mutations Arising in Congenital Pulmonary Airway Malformation

American journal of clinical pathology, 2021-07, Vol.156 (2), p.313-319

2021

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Fibrous dysplasia of bone: craniofacial and dental implications

Oral diseases, 2017-09, Vol.23 (6), p.697-708

2017

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How does intestinal-type intraductal papillary mucinous neoplasm emerge? CDX2 plays a critical role in the process of intestinal differentiation and progression

Virchows Archiv : an international journal of pathology, 2020-07, Vol.477 (1), p.21-31

2020

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FOPTID+1 controller with capacitive energy storage for AGC performance enrichment of multi-source electric power systems

Electric power systems research, 2023-08, Vol.221, p.109450, Article 109450

2023

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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)

Related GPCRs couple differently to Gs: preassociation between G protein and 5‐HT7 serotonin receptor reveals movement of Gαs upon receptor activation

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder

Molecular Definition of Pseudohypoparathyroidism Variants

Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia

GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines

Osteosarcoma arising in fibrous dysplasia, confirmed by mutational analysis of GNAS gene

A Flexible Caterpillar‐Like Gold Nanoparticle Assemblies with Ultrasmall Nanogaps for Enhanced Dual‐Modal Imaging and Photothermal Therapy

GNAS knockdown suppresses osteogenic differentiation of mesenchymal stem cells via activation of Hippo signaling pathway

Commitment and oncogene-induced plasticity of human stem cell-derived pancreatic acinar and ductal organoids

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions

Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications

Pseudohypoparathyroidism: complex disease variants with unfortunate names

CCL2 mitigates cyclic AMP‐suppressed Th2 immune response in human dendritic cells

GNAS, GNAQ, and GNA11 alterations in patients with diverse cancers

Lectins of the Araceae family: Insights, distinctions, and future avenues—A three-decade investigation

Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus

GNAS gene mutations affecting XLαs and bone health: A long neglected relationship

Activated AMP-protein kinase (pAMPK) is overexpressed in human somatotroph pituitary adenomas

A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs

Mucinous Adenocarcinoma With Intrapulmonary Metastasis Harboring KRAS and GNAS Mutations Arising in Congenital Pulmonary Airway Malformation

Fibrous dysplasia of bone: craniofacial and dental implications

Modeling plasticity and dysplasia of pancreatic ductal organoids derived from human pluripotent stem cells

How does intestinal-type intraductal papillary mucinous neoplasm emerge? CDX2 plays a critical role in the process of intestinal differentiation and progression

FOPTID+1 controller with capacitive energy storage for AGC performance enrichment of multi-source electric power systems

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