During the last two weeks of September, Genetics faculty members published seven manuscripts focused in multiple areas, including genomic terminology, clinical genomics, genome-wide associations for birth weight and correlations with adult disease, polygenic risk for schizophrenia, genetics of tobacco use, potential function of nuclear survival motor neuron complex and a commentary on attenuation of the NLRP inflammasome through protein kinase A-mediated phosphorylation of pattern recognition receptor.
Mastering genomic terminology.
Jarvik GP, Evans JP.
Genet Med. 2016 Sep 22. doi: 10.1038/gim.2016.139. [Epub ahead of print] No abstract available.
PMID: 27657676 [PubMed – as supplied by publisher]
A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research.
O’Daniel JM, Berg JS.
Genome Med. 2016 Sep 21;8(1):95.
PMID: 27655359 [PubMed – as supplied by publisher]
Reining in uncontrolled inflammasome with PKA.
Swanson KV, Ting JP.
Nat Immunol. 2016 Sep 20;17(10):1137-8. doi: 10.1038/ni.3556. No abstract available.
PMID: 27648539 [PubMed – in process]
Genome-wide associations for birth weight and correlations with adult disease.
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, Bradfield JP, Strachan DP, Li-Gao R, Ahluwalia TS, Kreiner E, Rueedi R, Lyytikäinen LP, Cousminer DL, Wu Y, Thiering E, Wang CA, Have CT, Hottenga JJ, Vilor-Tejedor N, Joshi PK, Boh ET, Ntalla I, Pitkänen N, Mahajan A, van Leeuwen EM, Joro R, Lagou V, Nodzenski M, Diver LA, Zondervan KT, Bustamante M, Marques-Vidal P, Mercader JM, Bennett AJ, Rahmioglu N, Nyholt DR, Ma RC, Tam CH, Tam WH; CHARGE Consortium Hematology Working Group, Ganesh SK, van Rooij FJ, Jones SE, Loh PR, Ruth KS, Tuke MA, Tyrrell J, Wood AR, Yaghootkar H, Scholtens DM, Paternoster L, Prokopenko I, Kovacs P, Atalay M, Willems SM, Panoutsopoulou K, Wang X, Carstensen L, Geller F, Schraut KE, Murcia M, van Beijsterveldt CE, Willemsen G, Appel EV, Fonvig CE, Trier C, Tiesler CM, Standl M, Kutalik Z, Bonàs-Guarch S, Hougaard DM, Sánchez F, Torrents D, Waage J, Hollegaard MV, de Haan HG, Rosendaal FR, Medina-Gomez C, Ring SM, Hemani G, McMahon G, Robertson NR, Groves CJ, Langenberg C, Luan J, Scott RA, Zhao JH, Mentch FD, MacKenzie SM, Reynolds RM; Early Growth Genetics (EGG) Consortium, Lowe WL, Tönjes A, Stumvoll M, Lindi V, Lakka TA, van Duijn CM, Kiess W, Körner A, Sørensen TI, Niinikoski H, Pahkala K, Raitakari OT, Zeggini E, Dedoussis GV, Teo YY, Saw SM, Melbye M, Campbell H, Wilson JF, Vrijheid M, de Geus EJ, Boomsma DI, Kadarmideen HN, Holm JC, Hansen T, Sebert S, Hattersley AT, Beilin LJ, Newnham JP, Pennell CE, Heinrich J, Adair LS, Borja JB, Mohlke KL, Eriksson JG, Widén E, Kähönen M, Viikari JS, Lehtimäki T, Vollenweider P, Bønnelykke K, Bisgaard H, Mook-Kanamori DO, Hofman A, Rivadeneira F, Uitterlinden AG, Pisinger C, Pedersen O, Power C, Hyppönen E, Wareham NJ, Hakonarson H, Davies E, Walker BR, Jaddoe VW, Järvelin MR, Grant SF, Vaag AA, Lawlor DA, Frayling TM, Smith GD, Morris AP, Ong KK, Felix JF, Timpson NJ, Perry JR, Evans DM, McCarthy MI, Freathy RM.
Nature. 2016 Sep 28. doi: 10.1038/nature19806. [Epub ahead of print]
PMID: 27680694 [PubMed – as supplied by publisher]
Gene expression elucidates functional impact of polygenic risk for schizophrenia.
Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüş ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Fullard JF, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Zhang B, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Lewis DA, Haroutunian V, Peters MA, Lipska BK, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P.
Nat Neurosci. 2016 Sep 26. doi: 10.1038/nn.4399. [Epub ahead of print]
PMID: 27668389 [PubMed – as supplied by publisher]
A Novel Tobacco Use Phenotype Suggests the 15q25 and 19q13 Loci May Be Differentially Associated with Cigarettes per Day and Tobacco-Related Problems.
Richmond-Rakerd LS, Otto JM, Slutske WS, Ehlers CL, Wilhelmsen KC, Gizer IR.
Nicotine Tob Res. 2016 Sep 23. pii: ntw260. [Epub ahead of print]
PMID: 27663783 [PubMed – as supplied by publisher]
SMN – A chaperone for nuclear RNP social occasions?
Raimer AC, Gray KM, Matera AG.
RNA Biol. 2016 Sep 20:0. [Epub ahead of print]
PMID: 27648855 [PubMed – as supplied by publisher]