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Items: 1 to 20 of 39

1.

Excess of rare, inherited truncating mutations in autism.

Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE.

Nat Genet. 2015 Jun;47(6):582-8. doi: 10.1038/ng.3303. Epub 2015 May 11.

2.

Low glucose transporter SLC2A5-inhibited human normal adjacent lung adenocarcinoma cytoplasmic pro-B cell development mechanism network.

You J, Wang L, Huang J, Jiang M, Chen Q, Wang Y, Jiang Z.

Mol Cell Biochem. 2015 Jan;399(1-2):71-6. doi: 10.1007/s11010-014-2233-x. Epub 2014 Oct 18.

PMID:
25326153
3.

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 5;54(5):805-19. doi: 10.1016/j.molcel.2014.03.046. Epub 2014 May 1.

4.

The 3M complex maintains microtubule and genome integrity.

Yan J, Yan F, Li Z, Sinnott B, Cappell KM, Yu Y, Mo J, Duncan JA, Chen X, Cormier-Daire V, Whitehurst AW, Xiong Y.

Mol Cell. 2014 Jun 5;54(5):791-804. doi: 10.1016/j.molcel.2014.03.047. Epub 2014 May 1.

5.

The E3 ubiquitin protein ligase HERC2 modulates the activity of tumor protein p53 by regulating its oligomerization.

Cubillos-Rojas M, Amair-Pinedo F, Peiró-Jordán R, Bartrons R, Ventura F, Rosa JL.

J Biol Chem. 2014 May 23;289(21):14782-95. doi: 10.1074/jbc.M113.527978. Epub 2014 Apr 9.

6.

Identifying biological pathways that underlie primordial short stature using network analysis.

Hanson D, Stevens A, Murray PG, Black GC, Clayton PE.

J Mol Endocrinol. 2014 Jun;52(3):333-44. doi: 10.1530/JME-14-0029. Epub 2014 Apr 7.

7.

Inhibition of Cullin-RING E3 ubiquitin ligase 7 by simian virus 40 large T antigen.

Hartmann T, Xu X, Kronast M, Muehlich S, Meyer K, Zimmermann W, Hurwitz J, Pan ZQ, Engelhardt S, Sarikas A.

Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3371-6. doi: 10.1073/pnas.1401556111. Epub 2014 Feb 18.

8.

The CUL7/F-box and WD repeat domain containing 8 (CUL7/Fbxw8) ubiquitin ligase promotes degradation of hematopoietic progenitor kinase 1.

Wang H, Chen Y, Lin P, Li L, Zhou G, Liu G, Logsdon C, Jin J, Abbruzzese JL, Tan TH, Wang H.

J Biol Chem. 2014 Feb 14;289(7):4009-17. doi: 10.1074/jbc.M113.520106. Epub 2013 Dec 20.

9.

6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay.

Chen CP, Lin SP, Liu YP, Chern SR, Wu PS, Chen YT, Su JW, Lee CC, Wang W.

Gene. 2013 Jul 1;523(1):99-102. doi: 10.1016/j.gene.2013.03.121. Epub 2013 Apr 8.

PMID:
23578800
10.

Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is regulated by protein palmitoylation.

Kong C, Lange JJ, Samovski D, Su X, Liu J, Sundaresan S, Stahl PD.

Biochem Biophys Res Commun. 2013 May 3;434(2):388-93. doi: 10.1016/j.bbrc.2013.04.001. Epub 2013 Apr 8.

11.

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M.

Ital J Pediatr. 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21.

12.

Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is mediated by CUL7 E3 ligase.

Kong C, Samovski D, Srikanth P, Wainszelbaum MJ, Charron AJ, Liu J, Lange JJ, Chen PI, Pan ZQ, Su X, Stahl PD.

PLoS One. 2012;7(9):e46485. doi: 10.1371/journal.pone.0046485. Epub 2012 Sep 27.

13.

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 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec.

14.

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN.

J Pediatr. 2013 Jan;162(1):202-4.e1. doi: 10.1016/j.jpeds.2012.07.055. Epub 2012 Sep 10. Erratum in: J Pediatr. 2013 Jan;162(1):217.

15.

Cullin7: a new gene involved in liver carcinogenesis related to metabolic syndrome.

Paradis V, Albuquerque M, Mebarki M, Hernandez L, Zalinski S, Quentin S, Belghiti J, Soulier J, Bedossa P.

Gut. 2013 Jun;62(6):911-9. doi: 10.1136/gutjnl-2012-302091. Epub 2012 Sep 1.

PMID:
22942238
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;77(3):335-42. doi: 10.1111/j.1365-2265.2012.04428.x. Review.

PMID:
22624670
17.

Cullin 7 and Fbxw 8 expression in trophoblastic cells is regulated via oxygen tension: implications for intrauterine growth restriction?

Fahlbusch FB, Dawood Y, Hartner A, Menendez-Castro C, Nögel SC, Tzschoppe A, Schneider H, Strissel P, Beckmann MW, Schleussner E, Ruebner M, Dörr HG, Schild RL, Rascher W, Dötsch J.

J Matern Fetal Neonatal Med. 2012 Nov;25(11):2209-15. doi: 10.3109/14767058.2012.684166. Epub 2012 May 14.

PMID:
22524683
18.

Characterization of the Cullin7 E3 ubiquitin ligase--heterodimerization of cullin substrate receptors as a novel mechanism to regulate cullin E3 ligase activity.

Ponyeam W, Hagen T.

Cell Signal. 2012 Jan;24(1):290-5. doi: 10.1016/j.cellsig.2011.08.020. Epub 2011 Sep 16.

PMID:
21946088
19.

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC.

Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028. Epub 2011 Jul 7.

20.

An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning.

Litterman N, Ikeuchi Y, Gallardo G, O'Connell BC, Sowa ME, Gygi SP, Harper JW, Bonni A.

PLoS Biol. 2011 May;9(5):e1001060. doi: 10.1371/journal.pbio.1001060. Epub 2011 May 10.

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