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Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome

The journal of clinical endocrinology and metabolism, 2019-10, Vol.104 (10), p.4676-4682

2019

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Cyclic 3′,5′-adenosine monophosphate (cAMP) signaling in the anterior pituitary gland in health and disease

Molecular and cellular endocrinology, 2018-03, Vol.463, p.72-86

2018

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Determinants of Clinical Behavior and Prognosis in Cushing's Disease: A Quest for Useful Biomarkers

Revista de investigacion clinica, 2022, Vol.74 (5), p.244-257

Hernández-Ramírez, Laura C

2022

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Genetics of Cushing’s Syndrome

Endocrinology and metabolism clinics of North America, 2018-06, Vol.47 (2), p.275-297

2018

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Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness

The journal of clinical endocrinology and metabolism, 2019-05, Vol.104 (5), p.1792-1801

2019

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An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations

Best Practice & Research Clinical Endocrinology & Metabolism, 2018-04, Vol.32 (2), p.125-140

2018

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Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

Endocrine-related cancer, 2017-08, Vol.24 (8), p.379-392

2017

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Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition

PloS one, 2012-12, Vol.7 (12), p.e53339-e53339

2012

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The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish

Molecular and cellular endocrinology, 2021-01, Vol.520, p.111091-111091, Article 111091

2021

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Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors

Cancers, 2023-12, Vol.15 (23), p.5685

2023

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Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

Human mutation, 2017-01, Vol.38 (1), p.78-85

2017

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Genetic diagnosis in acromegaly and gigantism: From research to clinical practice

Best Practice & Research Clinical Endocrinology & Metabolism, 2024-05, Vol.38 (3), p.101892-101892, Article 101892

2024

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Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

The journal of clinical endocrinology and metabolism, 2017-08, Vol.102 (8), p.2836-2843

2017

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Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary

Journal of the Endocrine Society, 2022-10, Vol.6 (10), p.bvac116-bvac116

2022

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Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype

The journal of clinical endocrinology and metabolism, 2020-06, Vol.105 (6), p.1983-2005

2020

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Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas

European journal of endocrinology, 2014-12, Vol.171 (6), p.705

2014

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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers in endocrinology (Lausanne), 2020-07, Vol.11, p.433-433

2020

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Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease

Archives of medical research, 2023-12, Vol.54 (8), p.102899-102899, Article 102899

2023

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Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations

The journal of clinical endocrinology and metabolism, 2016-08, Vol.101 (8), p.3144-3154

2016

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Potential markers of disease behavior in acromegaly and gigantism

Expert review of endocrinology & metabolism, 2020-05, Vol.15 (3), p.171-183

Hernández-Ramírez, Laura C.

2020

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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Acta neuropathologica communications, 2016-06, Vol.4 (1), p.56, Article 56

2016

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Corticotropinoma as a Component of Carney Complex

Journal of the Endocrine Society, 2017-07, Vol.1 (7), p.918-925

2017

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Genetic drivers of Cushing’s disease: Frequency and associated phenotypes

Genetics in medicine, 2022-12, Vol.24 (12), p.2516-2525

2022

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Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland

Oncotarget, 2018-02, Vol.9 (10), p.9177-9198

2018

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Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome

Cyclic 3′,5′-adenosine monophosphate (cAMP) signaling in the anterior pituitary gland in health and disease

Determinants of Clinical Behavior and Prognosis in Cushing's Disease: A Quest for Useful Biomarkers

Genetics of Cushing’s Syndrome

Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness

An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition

The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish

Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

Genetic diagnosis in acromegaly and gigantism: From research to clinical practice

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype

Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas

AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations

Potential markers of disease behavior in acromegaly and gigantism

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Corticotropinoma as a Component of Carney Complex

Genetic drivers of Cushing’s disease: Frequency and associated phenotypes

Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland

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