Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.P95S
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CDKN1B

NM_004064.5:p.P95S

Associated Papers

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Mazarico-Altisent I et al.

Journal of Endocrinological Investigation, 2023

36334246 (PubMed )
Supplement: 40618_2022_1948_MOESM1_ESM.xlsx › Supplementary_material

Multiple endocrine neoplasia type 4: a new member of the MEN family.

Singeisen H et al.

Endocrine Connections, 2023

Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.

Lavezzi E et al.

Frontiers in Endocrinology, 2022

CDKN1B mutation and copy number variation are associated with tumor aggressiveness in luminal breast cancer.

Viotto D et al.

The Journal of Pathology, 2021

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.

Frederiksen A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.

Cusan M et al.

Frontiers in Endocrinology, 2018

MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Alrezk R et al.

Endocrine-related Cancer, 2017

p27Kip1 and human cancers: A reappraisal of a still enigmatic protein.

Bencivenga D et al.

Cancer Letters, 2017

A Possible New Multiple Endocrine Neoplasia Mutation in a Patient with a Prototypic Multiple Endocrine Neoplasia Presentation.

Buzzola R et al.

Cardiorenal Medicine, 2016

The unpredictable consequences of CDKN1B/p27Kip1 mutations in cancer.

Borriello A et al.

Cell Cycle (georgetown, Tex.), 2015

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4

Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.

Tichomirowa MA et al.

Endocrine-related Cancer, 2012

MENX and MEN4.

Pellegata NS

Clinics (sao Paulo, Brazil), 2012

p27kip1: a new multiple endocrine neoplasia gene?

Marinoni I et al.

Neuroendocrinology, 2011

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Molatore S et al.

Human Mutation, 2010

MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations.

Georgitsi M

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Familial isolated pituitary adenoma: evidence for genetic heterogeneity.

Toledo RA et al.

Frontiers of Hormone Research, 2010

Familial pituitary adenomas.

Tichomirowa MA et al.

Journal of Internal Medicine, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."