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3. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. J Mol Endocrinol; 2012 Dec; 49(3):267-75. PubMed ID: 23018678 [Abstract] [Full Text] [Related]
4. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. Nie J, Xu C, Jin J, Aka JA, Tempel W, Nguyen V, You L, Weist R, Min J, Pawson T, Yang XJ. Structure; 2015 Apr 07; 23(4):700-12. PubMed ID: 25752541 [Abstract] [Full Text] [Related]
5. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K. Am J Med Genet A; 2019 Jul 07; 179(7):1157-1172. PubMed ID: 30980518 [Abstract] [Full Text] [Related]
6. A rare cause of syndromic short stature: 3M syndrome in three families. Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. Am J Med Genet A; 2021 Feb 07; 185(2):461-468. PubMed ID: 33258289 [Abstract] [Full Text] [Related]
12. CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity. Li Z, Pei XH, Yan J, Yan F, Cappell KM, Whitehurst AW, Xiong Y. Mol Cell; 2014 Jun 05; 54(5):805-19. PubMed ID: 24793696 [Abstract] [Full Text] [Related]
13. The 3M syndrome. Huber C, Munnich A, Cormier-Daire V. Best Pract Res Clin Endocrinol Metab; 2011 Feb 05; 25(1):143-51. PubMed ID: 21396581 [Abstract] [Full Text] [Related]
16. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC. Clin Endocrinol (Oxf); 2012 Sep 05; 77(3):335-42. PubMed ID: 22624670 [Abstract] [Full Text] [Related]
17. Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing. Hu L, Wang X, Jin T, Han Y, Liu J, Jiang M, Yan S, Fu X, An B, Huang S. J Clin Lab Anal; 2020 Jul 05; 34(7):e23265. PubMed ID: 32141654 [Abstract] [Full Text] [Related]