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Items: 13

1.

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.

Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27.

PMID:
29959045
2.

Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis.

Sardar S, Kanne K, Andersson Å.

Arch Immunol Ther Exp (Warsz). 2018 Oct;66(5):365-377. doi: 10.1007/s00005-018-0516-8. Epub 2018 Jun 27.

3.

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J.

Am J Med Genet A. 2018 Jan;176(1):181-186. doi: 10.1002/ajmg.a.38536. Epub 2017 Nov 21.

PMID:
29159987
4.

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.

Eur J Med Genet. 2017 Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.

5.

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.

Am J Med Genet A. 2017 May;173(5):1264-1269. doi: 10.1002/ajmg.a.38168. Epub 2017 Mar 29.

PMID:
28371282
6.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F.

Pediatr Res. 2016 Dec;80(6):809-815. doi: 10.1038/pr.2016.162. Epub 2016 Aug 8.

PMID:
27500536
7.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

8.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.

Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.

9.

Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

Utami KH, Winata CL, Hillmer AM, Aksoy I, Long HT, Liany H, Chew EG, Mathavan S, Tay SK, Korzh V, Sarda P, Davila S, Cacheux V.

Hum Mutat. 2014 Nov;35(11):1311-20. doi: 10.1002/humu.22636. Epub 2014 Sep 23. Review.

PMID:
25137640
10.

Further confirmation of the MED13L haploinsufficiency syndrome.

van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G.

Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30.

11.

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A.

Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13.

12.

The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator.

Davis MA, Larimore EA, Fissel BM, Swanger J, Taatjes DJ, Clurman BE.

Genes Dev. 2013 Jan 15;27(2):151-6. doi: 10.1101/gad.207720.112. Epub 2013 Jan 15.

13.

A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest.

Angus SP, Nevins JR.

Oncogene. 2012 Nov 1;31(44):4709-17. doi: 10.1038/onc.2011.622. Epub 2012 Jan 16.

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