CDKN1C Gene

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Zhou, V. CDKN1C Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5093 (accessed on 22 September 2026).

Zhou V. CDKN1C Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5093. Accessed September 22, 2026.

Zhou, Vicky. "CDKN1C Gene" Encyclopedia, https://encyclopedia.pub/entry/5093 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CDKN1C Gene. In Encyclopedia. https://encyclopedia.pub/entry/5093

Zhou, Vicky. "CDKN1C Gene." Encyclopedia. Web. 24 December, 2020.

CDKN1C Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/cdkn1c

cyclin dependent kinase inhibitor 1C

genes

References

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, DélotEC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF,Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi:10.1038/ng.2275.
Borges KS, Arboleda VA, Vilain E. Mutations in the PCNA-binding site of CDKN1Cinhibit cell proliferation by impairing the entry into S phase. Cell Div. 2015Mar 28;10:2. doi: 10.1186/s13008-015-0008-8.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M. CDKN1C mutations: two sides of the same coin. TrendsMol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001.
Gurrieri F, Zollino M, Oliva A, Pascali V, Orteschi D, Pietrobono R,Camporeale A, Coll Vidal M, Partemi S, Brugada R, Bellocci F, Neri G. MildBeckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Eur J Hum Genet. 2013 Sep;21(9):965-9. doi:10.1038/ejhg.2012.280.
Hamajima N, Johmura Y, Suzuki S, Nakanishi M, Saitoh S. Increased proteinstability of CDKN1C causes a gain-of-function phenotype in patients with IMAGesyndrome. PLoS One. 2013 Sep 30;8(9):e75137. doi: 10.1371/journal.pone.0075137.
Milani D, Pezzani L, Tabano S, Miozzo M. Beckwith-Wiedemann and IMAGesyndromes: two very different diseases caused by mutations on the same gene. ApplClin Genet. 2014 Sep 16;7:169-75. doi: 10.2147/TACG.S35474.Review.
Riccio A, Cubellis MV. Gain of function in CDKN1C. Nat Genet. 2012 Jun27;44(7):737-8. doi: 10.1038/ng.2336.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R,Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-SigueroJP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-MarfilV, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2))analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotypecorrelations, novel mutations, and polymorphisms. Am J Med Genet A. 2010Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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