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Items: 1 to 20 of 51

1.

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium, Ferreira P, Hasan SU, Au PB.

Am J Med Genet A. 2017 Oct;173(10):2596-2604. doi: 10.1002/ajmg.a.38355. Epub 2017 Jul 11.

PMID:
28696035
2.

Recognition of Histone H3K14 Acylation by MORF.

Klein BJ, Simithy J, Wang X, Ahn J, Andrews FH, Zhang Y, Côté J, Shi X, Garcia BA, Kutateladze TG.

Structure. 2017 Apr 4;25(4):650-654.e2. doi: 10.1016/j.str.2017.02.003. Epub 2017 Mar 9.

3.

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.

Preiksaitiene E, Tumienė B, Maldžienė Ž, Pranckevičienė E, Morkūnienė A, Utkus A, Kučinskas V.

Ophthalmic Genet. 2017 Jul-Aug;38(4):383-386. doi: 10.1080/13816810.2016.1227452. Epub 2016 Nov 23.

PMID:
27880066
4.

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T.

Clin Genet. 2017 Feb;91(2):339-343. doi: 10.1111/cge.12840. Epub 2016 Sep 29.

PMID:
27452416
5.

Decreased MORF leads to prolonged endoplasmic reticulum stress in periodontitis-associated chronic inflammation.

Xue P, Li B, An Y, Sun J, He X, Hou R, Dong G, Fei D, Jin F, Wang Q, Jin Y.

Cell Death Differ. 2016 Nov 1;23(11):1862-1872. doi: 10.1038/cdd.2016.74. Epub 2016 Jul 22.

6.

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G.

Am J Med Genet A. 2015 Dec;167A(12):3006-10. doi: 10.1002/ajmg.a.37343. Epub 2015 Sep 3.

PMID:
26334766
7.

KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.

Simó-Riudalbas L, Pérez-Salvia M, Setien F, Villanueva A, Moutinho C, Martínez-Cardús A, Moran S, Berdasco M, Gomez A, Vidal E, Soler M, Heyn H, Vaquero A, de la Torre C, Barceló-Batllori S, Vidal A, Roz L, Pastorino U, Szakszon K, Borck G, Moura CS, Carneiro F, Zondervan I, Savola S, Iwakawa R, Kohno T, Yokota J, Esteller M.

Cancer Res. 2015 Sep 15;75(18):3936-45. doi: 10.1158/0008-5472.CAN-14-3702. Epub 2015 Jul 24.

8.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J.

Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.

9.

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH.

Am J Med Genet A. 2014 Apr;164A(4):950-7. doi: 10.1002/ajmg.a.36379. Epub 2014 Jan 23.

10.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G.

Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22.

PMID:
23436491
11.

KAT6B-Related Disorders.

Campeau PM, Lee BH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Dec 13 [updated 2013 Jan 10].

12.

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH.

Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review.

13.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH.

Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.

14.

Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human Disease.

Huang F, Abmayr SM, Workman JL.

Mol Cell Biol. 2016 Jun 29;36(14):1900-7. doi: 10.1128/MCB.00055-16. Print 2016 Jul 15. Review.

15.

KAT5 and KAT6B are in positive regulation on cell proliferation of prostate cancer through PI3K-AKT signaling.

He W, Zhang MG, Wang XJ, Zhong S, Shao Y, Zhu Y, Shen ZJ.

Int J Clin Exp Pathol. 2013 Nov 15;6(12):2864-71. eCollection 2013.

16.

The double PHD finger domain of MOZ/MYST3 induces α-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification.

Dreveny I, Deeves SE, Fulton J, Yue B, Messmer M, Bhattacharya A, Collins HM, Heery DM.

Nucleic Acids Res. 2014 Jan;42(2):822-35. doi: 10.1093/nar/gkt931. Epub 2013 Oct 22.

17.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.

Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.

18.

Investigation of MYST4 histone acetyltransferase and its involvement in mammalian gametogenesis.

McGraw S, Morin G, Vigneault C, Leclerc P, Sirard MA.

BMC Dev Biol. 2007 Nov 2;7:123.

19.

Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).

Panagopoulos I, Fioretos T, Isaksson M, Samuelsson U, Billström R, Strömbeck B, Mitelman F, Johansson B.

Hum Mol Genet. 2001 Feb 15;10(4):395-404.

PMID:
11157802
20.

Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein.

Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, Heng HH, Yang XJ.

J Biol Chem. 1999 Oct 1;274(40):28528-36.

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