Výsledky vyhledávání - "Laura C. Hernández-Ramírez"

Akademický článek

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

Publikováno v: Revista de Investigación Clínica, Vol 74, Iss 5 (2022)

Cushing’s disease (CD) is the most common cause of endogenous hypercortisolemia. The clinical management of this condition is complex and entails multiple therapeutic strategies, treatment of chronic comorbidities, and lifelong surveillance for rec

Externí odkaz: https://doaj.org/article/0857a876590a42118747ea8845102755

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Akademický článek

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

Publikováno v: Frontiers in Endocrinology, Vol 11 (2020)

Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotrop

Externí odkaz: https://doaj.org/article/7952312d0762446d886aba3902769a4f

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Germline loss-of-functionPAMvariants are enriched in subjects with pituitary hypersecretion

Publikováno v: medRxiv

Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f8050d2a30a58b9ba340adbc1ceb13
https://doi.org/10.1101/2023.01.20.23284646

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Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary

Autor: Tatiane S Silva, Fabio R Faucz, Laura C Hernández-Ramírez, Nathan Pankratz, John Lane, Denise M Kay, Arthur Lyra, Cristiane Kochi, Constantine A Stratakis, Carlos A Longui, James L Mills

Publikováno v: J Endocr Soc

Context Ectopic posterior pituitary (EPP), a condition in which the posterior pituitary gland is displaced due to defective neuronal migration, is frequently associated with hypopituitarism. Genetic variants play a role, but many cases remain unexpla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb53e8a3a0faf2ba3dcb9401c494cec
https://doi.org/10.1210/jendso/bvac116

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

Autor: Laura C. Hernández-Ramírez, Nathan Pankratz, John Lane, Fabio R. Faucz, Prashant Chittiboina, Denise M. Kay, Zachary Beethem, James L. Mills, Constantine A. Stratakis

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)

Cushing's disease (CD) is often explained by a single somatic sequence change. Germline defects, however, often go unrecognized. We aimed to determine the frequency and associated phenotypes of genetic drivers of CD in a large cohort.We studied 245 u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208c8f865b142a778d8d1cb7321b96d7
https://pubmed.ncbi.nlm.nih.gov/36149413

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

Autor: James L. Mills, Margaret F. Keil, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M. Kay, Tara Hussein Tayeb, Fanny Chasseloup, Constantine A. Stratakis, Laura C. Hernández-Ramírez, Fabio R. Faucz

Publikováno v: J Clin Endocrinol Metab

Context Germline loss-of-function CDKN1B gene variants cause the autosomal dominant syndrome of multiple endocrine neoplasia type 4 (MEN4). Even though pituitary neuroendocrine tumors are a well-known component of the syndrome, only 2 cases of Cushin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0054d008645c08ffdc6a84f7066ef6b4
https://doi.org/10.1210/clinem/dgaa160

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The role of the aryl hydrocarbon receptor interacting protein in pituitary tumorigenesis

Autor: Laura C. Hernández-Ramírez

Germline genetic variants causing loss-of-function (LOF) of the aryl hydrocarbon receptor interacting protein gene (AIP) gene cause one-third of the cases of gigantism, one-fifth of the cases of familial isolated pituitary adenoma, and up to one-fift

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06b3a92abbfda93beb06605614ec6ed3
https://doi.org/10.1016/b978-0-12-814537-1.00003-8

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