Cargando…

MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations

CONTEXT: Germline CDKN1B pathogenic variants result in multiple endocrine neoplasia type 4 (MEN4), an autosomal dominant hereditary tumor syndrome variably associated with primary hyperparathyroidism, pituitary adenoma, and duodenopancreatic neuroendocrine tumors. OBJECTIVE: To report the phenotype...

Descripción completa

Detalles Bibliográficos
Autores principales:	Seabrook, Amanda, Wijewardene, Ayanthi, De Sousa, Sunita, Wong, Tang, Sheriff, Nisa, Gill, Anthony J, Iyer, Rakesh, Field, Michael, Luxford, Catherine, Clifton-Bligh, Roderick, McCormack, Ann, Tucker, Katherine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Clinical Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9282358/ https://www.ncbi.nlm.nih.gov/pubmed/35323929 http://dx.doi.org/10.1210/clinem/dgac162

Ejemplares similares

Translational Utility of Liquid Biopsies in Thyroid Cancer Management
por: Wijewardene, Ayanthi A., et al.
Publicado: (2021)

RF11 | PSAT370 I-PET Score: Combining Whole Body Iodine Scan and 18 Fluorodeoxyglucose Positron Emission Topography to Predict Progression in Thyroid Cancer
por: Wijewardene, Ayanthi, et al.
Publicado: (2022)

Hypervitaminosis D Secondary to a CYP24A1 Loss‐of‐Function Mutation: An Unusual Cause of Hypercalcemia in Two Siblings
por: Collins, Lucy, et al.
Publicado: (2023)

Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia
por: Kaplan, Adam I, et al.
Publicado: (2022)

A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1
por: Kwan, Benjamin, et al.
Publicado: (2018)

Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1
por: Arnold, Nirusha, et al.
Publicado: (2019)

SAT186 Young Patient With Primary Hyperparathyroidism And Mutation Of CDKN1B Gene MEN 4 Variant
por: Faria Briceno, Judith Jackelyn, et al.
Publicado: (2023)

The diagnosis and management of pheochromocytoma and paraganglioma during pregnancy
por: Clifton-Bligh, Roderick J.
Publicado: (2023)

Enjoyment, Exploration and Education: Understanding the Consumption of Pornography among Young Men with Non-Exclusive Sexual Orientations
por: McCormack, Mark, et al.
Publicado: (2016)

Rising rates of recent preexposure prophylaxis exposure among men having sex with men newly diagnosed with HIV: antiviral resistance patterns and treatment outcomes
por: Girometti, Nicolò, et al.
Publicado: (2022)

15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1–5
por: Benn, Diana E, et al.
Publicado: (2015)

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype
por: Occhi, Gianluca, et al.
Publicado: (2013)

Perceptions and Practicalities Influencing Pre-exposure Prophylaxis Adherence Among Men Who Have Sex with Men in England
por: Arnold-Forster, Dora, et al.
Publicado: (2022)

Clinical and psychosocial factors associated with domestic violence among men and women in Kandy, Sri Lanka
por: Bandara, Piumee, et al.
Publicado: (2022)

Two distinct classes of thymic tumors in patients with MEN1 show LOH at the MEN1 locus
por: Mandl, Adel, et al.
Publicado: (2021)

Predictive factors for HIV infection among men who have sex with men and who are seeking PrEP: a secondary analysis of the PROUD trial
por: White, Ellen, et al.
Publicado: (2019)

ACTH-secreting medullary thyroid cancer: a case series
por: Wijewardene, Ayanthi A, et al.
Publicado: (2017)

MEN 2 syndrome masquerading as MEN 1
por: Tarek, Ezzat, et al.
Publicado: (2012)

Splitting the atom men
por: Tucker, A
Publicado: (1970)

MON-LB021 Effects of Intranasal Oxytocin on the Fasting Serum Proteome in Healthy Lean and Obese Men
por: Harshman, Stephanie, et al.
Publicado: (2019)

OR33-04 The Effect of Adiposity on the Fasting Serum Proteome in Normal Weight and Obese Men
por: Harshman, Stephanie Geris, et al.
Publicado: (2020)

Mutation analysis of genes that control the G1/S cell cycle in melanoma: TP53, CDKN1A, CDKN2A, and CDKN2B
por: Soto, José Luis, et al.
Publicado: (2005)

A Clinicopathologic and Molecular Analysis of Fumarate Hydratase–deficient Pheochromocytoma and Paraganglioma
por: Fuchs, Talia L., et al.
Publicado: (2023)

Roles of CDKN1B in cancer?
por: Belletti, Barbara, et al.
Publicado: (2015)

Identification of MEN1 gene mutations in families with MEN 1 and related disorders
por: Bergman, L, et al.
Publicado: (2000)

Thyroid transcription factor FOXE1 interacts with ETS factor ELK1 to co-regulate TERT
por: Bullock, Martyn, et al.
Publicado: (2016)

A multiplexed, targeted mass spectrometry assay of the S100 protein family uncovers the isoform-specific expression in thyroid tumours
por: Martínez-Aguilar, Juan, et al.
Publicado: (2015)

Proteomics of thyroid tumours provides new insights into their molecular composition and changes associated with malignancy
por: Martínez-Aguilar, Juan, et al.
Publicado: (2016)

Intimate partner violence, depression, and sexual behaviour among gay, bisexual and other men who have sex with men in the PROUD trial
por: Miltz, Ada R., et al.
Publicado: (2019)

OR34-6 A Novel Mechanism of SDH-Deficient Tumorigenesis and Implications for Genetic Testing in Patients with Pheochromocytoma-Paraganglioma
por: De Sousa, Sunita M.C., et al.
Publicado: (2019)

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
por: Thakker, Rajesh V.
Publicado: (2014)

True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome
por: Kövesdi, Annamária, et al.
Publicado: (2019)

Prevalence and correlates of depressive symptoms among gay, bisexual and other men who have sex with men in the PROUD randomised clinical trial of HIV pre-exposure prophylaxis
por: Miltz, Ada, et al.
Publicado: (2019)

The health and well-being of men who have sex with men (MSM) in Britain: Evidence from the third National Survey of Sexual Attitudes and Lifestyles (Natsal-3)
por: Mercer, Catherine H., et al.
Publicado: (2016)

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas
por: De Sousa, Sunita M C, et al.
Publicado: (2020)

Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study
por: Davidoff, Dahlia F, et al.
Publicado: (2022)

High Multiplicity Infection by HIV-1 in Men Who Have Sex with Men
por: Li, Hui, et al.
Publicado: (2010)

Loss of MEN1 activates DNMT1 implicating DNA hypermethylation as a driver of MEN1 tumorigenesis
por: Yuan, Ziqiang, et al.
Publicado: (2016)

Dual Suppression of the Cyclin-Dependent Kinase Inhibitors CDKN2C and CDKN1A in Human Melanoma
por: Jalili, Ahmad, et al.
Publicado: (2012)

Evolution of the CDKN1C-KCNQ1 imprinted domain
por: Ager, Eleanor I, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_0h14s95g8c5chmsscr9r2ikl7d