Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100

1.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
2.

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Lebrun N, Mehler-Jacob C, Poirier K, Zordan C, Lacombe D, Carion N, Billuart P, Bienvenu T.

Gene. 2018 Dec 30;679:305-313. doi: 10.1016/j.gene.2018.09.016. Epub 2018 Sep 12.

PMID:
30217758
3.

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.

Chen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B.

Mol Autism. 2017 Mar 21;8:14. doi: 10.1186/s13229-017-0130-3. eCollection 2017.

4.

Aberrant KDM5B expression promotes aggressive breast cancer through MALAT1 overexpression and downregulation of hsa-miR-448.

Bamodu OA, Huang WC, Lee WH, Wu A, Wang LS, Hsiao M, Yeh CT, Chao TY.

BMC Cancer. 2016 Feb 25;16:160. doi: 10.1186/s12885-016-2108-5.

5.

Characterization of a Linked Jumonji Domain of the KDM5/JARID1 Family of Histone H3 Lysine 4 Demethylases.

Horton JR, Engstrom A, Zoeller EL, Liu X, Shanks JR, Zhang X, Johns MA, Vertino PM, Fu H, Cheng X.

J Biol Chem. 2016 Feb 5;291(6):2631-46. doi: 10.1074/jbc.M115.698449. Epub 2015 Dec 8.

6.

Histone demethylase KDM5B is a key regulator of genome stability.

Li X, Liu L, Yang S, Song N, Zhou X, Gao J, Yu N, Shan L, Wang Q, Liang J, Xuan C, Wang Y, Shang Y, Shi L.

Proc Natl Acad Sci U S A. 2014 May 13;111(19):7096-101. doi: 10.1073/pnas.1324036111. Epub 2014 Apr 28.

7.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study.

Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.

8.

SUMOylation negatively modulates target gene occupancy of the KDM5B, a histone lysine demethylase.

Bueno MT, Richard S.

Epigenetics. 2013 Nov;8(11):1162-75. doi: 10.4161/epi.26112. Epub 2013 Aug 22.

PMID:
23970103
9.

Overexpression of the JmjC histone demethylase KDM5B in human carcinogenesis: involvement in the proliferation of cancer cells through the E2F/RB pathway.

Hayami S, Yoshimatsu M, Veerakumarasivam A, Unoki M, Iwai Y, Tsunoda T, Field HI, Kelly JD, Neal DE, Yamaue H, Ponder BA, Nakamura Y, Hamamoto R.

Mol Cancer. 2010 Mar 13;9:59. doi: 10.1186/1476-4598-9-59.

10.

The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3.

Albert M, Schmitz SU, Kooistra SM, Malatesta M, Morales Torres C, Rekling JC, Johansen JV, Abarrategui I, Helin K.

PLoS Genet. 2013 Apr;9(4):e1003461. doi: 10.1371/journal.pgen.1003461. Epub 2013 Apr 18.

11.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

12.

The PHD1 finger of KDM5B recognizes unmodified H3K4 during the demethylation of histone H3K4me2/3 by KDM5B.

Zhang Y, Yang H, Guo X, Rong N, Song Y, Xu Y, Lan W, Zhang X, Liu M, Xu Y, Cao C.

Protein Cell. 2014 Nov;5(11):837-50. doi: 10.1007/s13238-014-0078-4. Epub 2014 Jun 22.

13.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project.

JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582.

14.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study.

Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.

15.

Overexpressed KDM5B is associated with the progression of glioma and promotes glioma cell growth via downregulating p21.

Dai B, Hu Z, Huang H, Zhu G, Xiao Z, Wan W, Zhang P, Jia W, Zhang L.

Biochem Biophys Res Commun. 2014 Nov 7;454(1):221-7. doi: 10.1016/j.bbrc.2014.10.078. Epub 2014 Oct 22.

PMID:
25450384
16.

MicroRNAs regulate KDM5 histone demethylases in breast cancer cells.

Denis H, Van Grembergen O, Delatte B, Dedeurwaerder S, Putmans P, Calonne E, Rothé F, Sotiriou C, Fuks F, Deplus R.

Mol Biosyst. 2016 Feb;12(2):404-13. doi: 10.1039/c5mb00513b.

PMID:
26621457
18.

KDM5B focuses H3K4 methylation near promoters and enhancers during embryonic stem cell self-renewal and differentiation.

Kidder BL, Hu G, Zhao K.

Genome Biol. 2014 Feb 4;15(2):R32. doi: 10.1186/gb-2014-15-2-r32.

19.

Prevalence and architecture of de novo mutations in developmental disorders.

Deciphering Developmental Disorders Study.

Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.

20.

Histone demethylase KDM5B collaborates with TFAP2C and Myc to repress the cell cycle inhibitor p21(cip) (CDKN1A).

Wong PP, Miranda F, Chan KV, Berlato C, Hurst HC, Scibetta AG.

Mol Cell Biol. 2012 May;32(9):1633-44. doi: 10.1128/MCB.06373-11. Epub 2012 Feb 27.

Supplemental Content

Support Center