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MENX.
Pellegata NS. Pellegata NS. Ann Endocrinol (Paris). 2012 Apr;73(2):65-70. doi: 10.1016/j.ando.2012.04.001. Epub 2012 Apr 25. Ann Endocrinol (Paris). 2012. PMID: 22542001 Review.
Extensive genetic studies identified a germline mutation in the Cdkn1b gene, encoding the p27 cell cycle inhibitor, as the causative mutation for MENX. ...As a consequence of this discovery, a novel human MEN syndrome, named MEN4, was recognized which is caused by mutation …
Extensive genetic studies identified a germline mutation in the Cdkn1b gene, encoding the p27 cell cycle inhibitor, as the causative …
Updates on the genetics of multiple endocrine neoplasia.
Sahakian N, Castinetti F, Romanet P, Reznik Y, Brue T. Sahakian N, et al. Ann Endocrinol (Paris). 2024 Apr;85(2):127-135. doi: 10.1016/j.ando.2023.11.005. Epub 2024 Feb 5. Ann Endocrinol (Paris). 2024. PMID: 38325596 Review.
MEN4 is a rare phenocopy of MEN1 linked to constitutional mutations in the CDKN1B gene. Though it closely resembles the phenotype of MEN1, published data suggests the appearance of tumors is later and less frequent in MEN4. ...
MEN4 is a rare phenocopy of MEN1 linked to constitutional mutations in the CDKN1B gene. Though it closely resembles the phenotype of …
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Wasserman JD, Tomlinson GE, Druker H, Kamihara J, Kohlmann WK, Kratz CP, Nathanson KL, Pajtler KW, Parareda A, Rednam SP, States LJ, Villani A, Walsh MF, Zelley K, Schiffman JD. Wasserman JD, et al. Clin Cancer Res. 2017 Jul 1;23(13):e123-e132. doi: 10.1158/1078-0432.CCR-17-0548. Clin Cancer Res. 2017. PMID: 28674121 Free PMC article. Review.
Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13.1), and th …
Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variant …
Parathyroid Tumors: Molecular Signatures.
Marini F, Giusti F, Iantomasi T, Brandi ML. Marini F, et al. Int J Mol Sci. 2021 Oct 18;22(20):11206. doi: 10.3390/ijms222011206. Int J Mol Sci. 2021. PMID: 34681865 Free PMC article. Review.
Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome.
Ruggeri RM, Benevento E, De Cicco F, Grossrubatscher EM, Hasballa I, Tarsitano MG, Centello R, Isidori AM, Colao A, Pellegata NS, Faggiano A. Ruggeri RM, et al. Endocrine. 2023 Dec;82(3):480-490. doi: 10.1007/s12020-023-03497-2. Epub 2023 Aug 26. Endocrine. 2023. PMID: 37632635 Review.
MEN4 clinically overlaps MEN type 1 (MEN1) but differs from it for milder clinical features and an older patient's age at onset. The underlying mutated gene, CDKN1B, encodes the cell cycle regulator p27, implicated in cellular proliferation, motility and apoptosis. ...
MEN4 clinically overlaps MEN type 1 (MEN1) but differs from it for milder clinical features and an older patient's age at onset. The underly …
MEN4 and CDKN1B mutations: the latest of the MEN syndromes.
Alrezk R, Hannah-Shmouni F, Stratakis CA. Alrezk R, et al. Endocr Relat Cancer. 2017 Oct;24(10):T195-T208. doi: 10.1530/ERC-17-0243. Epub 2017 Aug 19. Endocr Relat Cancer. 2017. PMID: 28824003 Free PMC article. Review.
A novel MEN syndrome was discovered, initially in rats (MENX), and later in humans (MEN4), which is caused by germline mutations in the putative tumor suppressor CDKN1B The most common phenotype of the 19 established cases of MEN4 that have been described to date is PHPT f …
A novel MEN syndrome was discovered, initially in rats (MENX), and later in humans (MEN4), which is caused by germline mutations in the puta …
Animal models of multiple endocrine neoplasia.
Wiedemann T, Pellegata NS. Wiedemann T, et al. Mol Cell Endocrinol. 2016 Feb 5;421:49-59. doi: 10.1016/j.mce.2015.07.004. Epub 2015 Jul 13. Mol Cell Endocrinol. 2016. PMID: 26184857 Review.
It was discovered less than 10 years ago thanks to studies of a rat strain that spontaneously develops multiple endocrine tumors (named MENX). These studies identified an inactivating mutation in the Cdkn1b gene, encoding the putative tumor suppressor p27, as the causative …
It was discovered less than 10 years ago thanks to studies of a rat strain that spontaneously develops multiple endocrine tumors (named MENX …
Multiple endocrine neoplasia, the old and the new: a mini review.
Pasquali D, Di Matteo FM, Renzullo A, Accardo G, Esposito D, Barbato F, Colantuoni V, Circelli L, Conzo G. Pasquali D, et al. G Chir. 2012 Nov-Dec;33(11-12):370-3. G Chir. 2012. PMID: 23140918 Review.
Recently, Pellegata et al. have reported that germline mutations in CDKN1B can predispose to the development of multiple endocrine tumours in both rats and humans and this new MEN syndrome is named MENX and MEN4, respectively. CDKN1B. A recent report showed that in …
Recently, Pellegata et al. have reported that germline mutations in CDKN1B can predispose to the development of multiple endocrine tu …
Multiple endocrine neoplasia type 4.
Lee M, Pellegata NS. Lee M, et al. Front Horm Res. 2013;41:63-78. doi: 10.1159/000345670. Epub 2013 Mar 19. Front Horm Res. 2013. PMID: 23652671 Review.
The rat and the human syndromes are both caused by germline mutations in the Cdkn1b/CDKN1B gene, respectively. This gene encodes p27Kip1, a putative tumor suppressor which binds to and inhibits cyclin/cyclin-dependent kinase complexes, thereby preventing cell cycle …
The rat and the human syndromes are both caused by germline mutations in the Cdkn1b/CDKN1B gene, respectively. This gene encod …
Germline CDKN1B variant type and site are associated with phenotype in MEN4.
Halperin R, Arnon L, Nasirov S, Friedensohn L, Gershinsky M, Telerman A, Friedman E, Bernstein-Molho R, Tirosh A. Halperin R, et al. Endocr Relat Cancer. 2022 Dec 12;30(1):e220174. doi: 10.1530/ERC-22-0174. Print 2023 Jan 1. Endocr Relat Cancer. 2022. PMID: 36256846 Review.
Prompted by the findings in three Israeli MEN4 kindreds, we performed a literature review on published and unpublished data from previously reported MEN4/CDKN1B cases. Univariate analysis analyzed time-dependent risks for developing PHPT, PitAd, or NET by variant type and …
Prompted by the findings in three Israeli MEN4 kindreds, we performed a literature review on published and unpublished data from previously …
70 results