Cargando…

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

The CDKN1B gene encodes the cyclin-dependent kinase inhibitor p27(KIP1), an atypical tumor suppressor playing a key role in cell cycle regulation, cell proliferation, and differentiation. Impaired p27(KIP1) expression and/or localization are often observed in tumor cells, further confirming its cent...

Descripción completa

Detalles Bibliográficos
Autores principales:	Occhi, Gianluca, Regazzo, Daniela, Trivellin, Giampaolo, Boaretto, Francesca, Ciato, Denis, Bobisse, Sara, Ferasin, Sergio, Cetani, Filomena, Pardi, Elena, Korbonits, Márta, Pellegata, Natalia S., Sidarovich, Viktoryia, Quattrone, Alessandro, Opocher, Giuseppe, Mantero, Franco, Scaroni, Carla
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605397/ https://www.ncbi.nlm.nih.gov/pubmed/23555276 http://dx.doi.org/10.1371/journal.pgen.1003350

Ejemplares similares

Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4
por: Pardi, Elena, et al.
Publicado: (2014)

A Cell-Based High-Throughput Screen Addressing 3′UTR-Dependent Regulation of the MYCN Gene
por: Sidarovich, Viktoryia, et al.
Publicado: (2014)

The Role of Glucocorticoid Receptor in the Pathophysiology of Pituitary Corticotroph Adenomas
por: Regazzo, Daniela, et al.
Publicado: (2022)

Silent gonadotroph pituitary neuroendocrine tumor in a patient with tuberous sclerosis complex: evaluation of a possible molecular link
por: Regazzo, Daniela, et al.
Publicado: (2018)

A constitutive active MAPK/ERK pathway due to BRAF(V600E) positively regulates AHR pathway in PTC
por: Occhi, Gianluca, et al.
Publicado: (2015)

Multi-omic profiling of MYCN-amplified neuroblastoma cell-lines
por: Dassi, Erik, et al.
Publicado: (2015)

Translational compensation of genomic instability in neuroblastoma
por: Dassi, Erik, et al.
Publicado: (2015)

Expanding the Chemical Space of Arsenicin A-C Related Polyarsenicals and Evaluation of Some Analogs as Inhibitors of Glioblastoma Stem Cell Growth
por: Vigna, Jacopo, et al.
Publicado: (2023)

Noise reduction by upstream open reading frames
por: Wu, Ho-Wei, et al.
Publicado: (2022)

Autophagy inhibition improves the cytotoxic effects of receptor tyrosine kinase inhibitors
por: Aveic, Sanja, et al.
Publicado: (2018)

The Methylation Analysis of the Glucose-Dependent Insulinotropic Polypeptide Receptor (GIPR) Locus in GH-Secreting Pituitary Adenomas
por: Dalle Nogare, Mattia, et al.
Publicado: (2023)

A Screening of Native (Poly)phenols and Gut‐Related Metabolites on 3D HCT116 Spheroids Reveals Gut Health Benefits of a Flavan‐3‐ol Metabolite
por: Rubert, Josep, et al.
Publicado: (2022)

Conserved upstream open reading frames in higher plants
por: Tran, Michael K, et al.
Publicado: (2008)

Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management
por: Lavezzi, Elisabetta, et al.
Publicado: (2022)

Clinical presentation and management of acromegaly in elderly patients
por: Ceccato, Filippo, et al.
Publicado: (2020)

The role of upstream sequences in selecting the reading frame on tmRNA
por: Miller, Mickey R, et al.
Publicado: (2008)

Predicting functional upstream open reading frames in Saccharomyces cerevisiae
por: Selpi, et al.
Publicado: (2009)

Upstream open reading frames: Molecular switches in (patho)physiology
por: Wethmar, Klaus, et al.
Publicado: (2010)

A perspective on mammalian upstream open reading frame function
por: Somers, Joanna, et al.
Publicado: (2013)

Translational buffering by ribosome stalling in upstream open reading frames
por: Bottorff, Ty A., et al.
Publicado: (2022)

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease
por: Barbosa, Cristina, et al.
Publicado: (2013)

Translation of upstream open reading frames in a model of neuronal differentiation
por: Rodriguez, Caitlin M., et al.
Publicado: (2019)

Temperature-dependent regulation of upstream open reading frame translation in S. cerevisiae
por: Kulkarni, Shardul D., et al.
Publicado: (2019)

Posttranscriptional Regulation by Copper with a New Upstream Open Reading Frame
por: Roy, Gauthier, et al.
Publicado: (2022)

Conserved Peptide Upstream Open Reading Frames are Associated with Regulatory Genes in Angiosperms
por: Jorgensen, Richard A., et al.
Publicado: (2012)

Extensive Transcript Diversity and Novel Upstream Open Reading Frame Regulation in Yeast
por: Waern, Karl, et al.
Publicado: (2013)

Selective Constraint on the Upstream Open Reading Frames That Overlap with Coding Sequences in Animals
por: Hsu, Ming-Kung, et al.
Publicado: (2012)

Comprehensive translational control of tyrosine kinase expression by upstream open reading frames
por: Wethmar, K, et al.
Publicado: (2016)

A comprehensive catalog of predicted functional upstream open reading frames in humans
por: McGillivray, Patrick, et al.
Publicado: (2018)

Translational control of murine adiponectin expression by an upstream open reading frame element
por: Vasu, Kommireddy, et al.
Publicado: (2023)

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
por: Morgan, Rhodri M. L., et al.
Publicado: (2012)

Role of Estrogen and Estrogen Receptor in GH-Secreting Adenomas
por: Voltan, Giacomo, et al.
Publicado: (2023)

A profusion of upstream open reading frame mechanisms in polyamine-responsive translational regulation
por: Ivanov, Ivaylo P., et al.
Publicado: (2010)

An Upstream Open Reading Frame Modulates Ebola Virus Polymerase Translation and Virus Replication
por: Shabman, Reed S., et al.
Publicado: (2013)

Translation of the human erythropoietin transcript is regulated by an upstream open reading frame in response to hypoxia
por: Barbosa, Cristina, et al.
Publicado: (2014)

An Upstream Open Reading Frame Regulates LST1 Expression during Monocyte Differentiation
por: Schiller, Christian, et al.
Publicado: (2014)

uORF-Tools—Workflow for the determination of translation-regulatory upstream open reading frames
por: Scholz, Anica, et al.
Publicado: (2019)

Variation in upstream open reading frames contributes to allelic diversity in maize protein abundance
por: Gage, Joseph L., et al.
Publicado: (2022)

OR07-05 Is Urinary Calcium the Only Predictor of Nephrolithiasis in Patients with Asymptomatic Primary Hyperparathyroidism?
por: Saponaro, Federica, et al.
Publicado: (2020)

Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2
por: Romei, C., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_ci4mvvim7ha92ce1ghcjg2bl94