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Items: 1 to 20 of 87

1.

Bivalent complexes of PRC1 with orthologs of BRD4 and MOZ/MORF target developmental genes in <i>Drosophila</i>.

Kang H, Jung YL, McElroy KA, Zee BM, Wallace HA, Woolnough JL, Park PJ, Kuroda MI.

Genes Dev. 2017 Oct 1;31(19):1988-2002. doi: 10.1101/gad.305987.117. Epub 2017 Oct 25.

2.

Cover Image, Volume 173A, Number 10, October 2017.

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):i. doi: 10.1002/ajmg.a.38481.

PMID:
28921853
3.

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
4.

Genetic Factors Involved in Mandibular Prognathism.

Doraczynska-Kowalik A, Nelke KH, Pawlak W, Sasiadek MM, Gerber H.

J Craniofac Surg. 2017 Jul;28(5):e422-e431. doi: 10.1097/SCS.0000000000003627. Review.

PMID:
28570402
5.

De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.

Li G, Li N, Li J, Ding Y, Yu T, Wang X, Wang J.

Fetal Pediatr Pathol. 2017 Apr;36(2):130-138. doi: 10.1080/15513815.2017.1281364. Epub 2017 Feb 7.

PMID:
28426343
6.

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.

7.

Application of high resolution SNP arrays in patients with congenital oral clefts in south China.

Lei TY, Wang HT, Li F, Cui YQ, Fu F, Li R, Liao C.

J Genet. 2016 Dec;95(4):801-809.

8.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ.

Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8.

9.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A.

Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8.

10.

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
11.

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.

12.

Determination of differentially regulated proteins upon proteasome inhibition in AML cell lines by the combination of large-scale and targeted quantitative proteomics.

Matondo M, Marcellin M, Chaoui K, Bousquet-Dubouch MP, Gonzalez-de-Peredo A, Monsarrat B, Burlet-Schiltz O.

Proteomics. 2017 Apr;17(7). doi: 10.1002/pmic.201600089. Epub 2016 Dec 21.

13.
14.

MRG15 is required for pre-mRNA splicing and spermatogenesis.

Iwamori N, Tominaga K, Sato T, Riehle K, Iwamori T, Ohkawa Y, Coarfa C, Ono E, Matzuk MM.

Proc Natl Acad Sci U S A. 2016 Sep 13;113(37):E5408-15. doi: 10.1073/pnas.1611995113. Epub 2016 Aug 29.

15.

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
16.

De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.

Lei TY, Wang HT, Li F, Cui YQ, Fu F, Li R, Liao C.

Cleft Palate Craniofac J. 2017 May;54(3):343-350. doi: 10.1597/15-171. Epub 2016 Mar 31.

PMID:
27031267
17.

Histone acetylation and histone acetyltransferases show significant alterations in human abdominal aortic aneurysm.

Han Y, Tanios F, Reeps C, Zhang J, Schwamborn K, Eckstein HH, Zernecke A, Pelisek J.

Clin Epigenetics. 2016 Jan 13;8:3. doi: 10.1186/s13148-016-0169-6. eCollection 2016.

18.

Computational Identification of MoRFs in Protein Sequences Using Hierarchical Application of Bayes Rule.

Malhis N, Wong ET, Nassar R, Gsponer J.

PLoS One. 2015 Oct 30;10(10):e0141603. doi: 10.1371/journal.pone.0141603. eCollection 2015.

19.

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Vlckova M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z.

Eur J Med Genet. 2015 Oct;58(10):550-5. doi: 10.1016/j.ejmg.2015.09.004. Epub 2015 Sep 11.

PMID:
26370006
20.

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

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