Dysostosis Peripheral Latest Advances

Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.

Journal: Journal of molecular biology

Published: June 11, 2025

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Journal: The Journal of craniofacial surgery

Published: March 03, 2025

Brachydactylia in acrodysostosis.

Journal: QJM : monthly journal of the Association of Physicians

Published: November 12, 2024

Brachydactylia in acrodysostosis.

Journal: QJM : monthly journal of the Association of Physicians

Published: November 12, 2024

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

Journal: Oxford medical case reports

Published: July 13, 2024

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

Journal: Brain communications

Published: March 08, 2024

Impaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis.

Journal: Frontiers in molecular biosciences

Published: April 07, 2023

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Journal: Journal of sleep research

Published: January 10, 2023

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Journal: Journal of endocrinological investigation

Published: September 08, 2022

Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report.

Journal: Surgical neurology international

Published: July 30, 2022

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Journal: Endocrine connections

Published: July 25, 2022

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.

Journal: Pharmacological reviews

Published: October 19, 2021

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Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.

Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Brachydactylia in acrodysostosis.

Brachydactylia in acrodysostosis.

Brachydactylia in acrodysostosis.

Brachydactylia in acrodysostosis.

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

Impaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis.

Impaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis.

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report.

Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report.

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.