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The faculty of the Department of Genetics published nine papers during the last two weeks.

A Missed Opportunity to Discuss Racial and Gender Bias in Dermatology.

Adamson AS, Wright SW, Pandya AG. JAMA Dermatol.
2017 Jan 1;153(1):110-111. doi: 10.1001/jamadermatol.2016.3752. No abstract available.
PMID: 28114518

Candidate Risk Factors and Mechanisms for Tolvaptan-Induced Liver Injury Are Identified Using a Collaborative Cross Approach.

Mosedale M, Kim Y, Brock WJ, Roth SE, Wiltshire T, Scott Eaddy J, Keele GR, Corty RW, Xie Y, Valdar W, Watkins PB.
Toxicol Sci. 2017 Jan 23. pii: kfw269. doi: 10.1093/toxsci/kfw269. [Epub ahead of print] PMID: 28115652

BRG1 and BRM SWI/SNF ATPases redundantly maintain cardiomyocyte homeostasis by regulating cardiomyocyte mitophagy and mitochondrial dynamics in vivo.

Bultman SJ, Holley DW, G de Ridder G, Pizzo SV, Sidorova TN, Murray KT, Jensen BC, Wang Z, Bevilacqua A, Chen X, Quintana MT, Tannu M, Rosson GB, Pandya K, Willis MS.
Cardiovasc Pathol. 2016 May-Jun;25(3):258-69. doi: 10.1016/j.carpath.2016.02.004.
PMID: 27039070

Rare and low-frequency coding variants alter human adult height.

Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, Turcot V, Young KL, Winkler TW, Esko T, Karaderi T, Locke AE, Masca NG, Ng MC, Mudgal P, Rivas MA, Vedantam S, Mahajan A, Guo X, Abecasis G, Aben KK, Adair LS, Alam DS, Albrecht E, Allin KH, Allison M, Amouyel P, Appel EV, Arveiler D, Asselbergs FW, Auer PL, Balkau B, Banas B, Bang LE, Benn M, Bergmann S, Bielak LF, Blüher M, Boeing H, Boerwinkle E, Böger CA, Bonnycastle LL, Bork-Jensen J, Bots ML, Bottinger EP, Bowden DW, Brandslund I, Breen G, Brilliant MH, Broer L, Burt AA, Butterworth AS, Carey DJ, Caulfield MJ, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Cocca M, Collins FS, Cook JP, Corley J, Galbany JC, Cox AJ, Cuellar-Partida G, Danesh J, Davies G, de Bakker PI, de Borst GJ, de Denus S, de Groot MC, de Mutsert R, Deary IJ, Dedoussis G, Demerath EW, den Hollander AI, Dennis JG, Di Angelantonio E, Drenos F, Du M, Dunning AM, Easton DF, Ebeling T, Edwards TL, Ellinor PT, Elliott P, Evangelou E, Farmaki AE, Faul JD, Feitosa MF, Feng S, Ferrannini E, Ferrario MM, Ferrieres J, Florez JC, Ford I, Fornage M, Franks PW, Frikke-Schmidt R, Galesloot TE, Gan W, Gandin I, Gasparini P, Giedraitis V, Giri A, Girotto G, Gordon SD, Gordon-Larsen P, Gorski M, Grarup N, Grove ML, Gudnason V, Gustafsson S, Hansen T, Harris KM, Harris TB, Hattersley AT, Hayward C, He L, Heid IM, Heikkilä K, Helgeland Ø, Hernesniemi J, Hewitt AW, Hocking LJ, Hollensted M, Holmen OL, Hovingh GK, Howson JM, Hoyng CB, Huang PL, Hveem K, Ikram MA, Ingelsson E, Jackson AU, Jansson JH, Jarvik GP, Jensen GB, Jhun MA, Jia Y, Jiang X, Johansson S, Jørgensen ME, Jørgensen T, Jousilahti P, Jukema JW, Kahali B, Kahn RS, Kähönen M, Kamstrup PR, Kanoni S, Kaprio J, Karaleftheri M, Kardia SL, Karpe F, Kee F, Keeman R, Kiemeney LA, Kitajima H, Kluivers KB, Kocher T, Komulainen P, Kontto J, Kooner JS, Kooperberg C, Kovacs P, Kriebel J, Kuivaniemi H, Küry S, Kuusisto J, La Bianca M, Laakso M, Lakka TA, Lange EM, Lange LA, Langefeld CD, Langenberg C, Larson EB, Lee IT, Lehtimäki T, Lewis CE, Li H, Li J, Li-Gao R, Lin H, Lin LA, Lin X, Lind L, Lindström J, Linneberg A, Liu Y, Liu Y, Lophatananon A, Luan J, Lubitz SA, Lyytikäinen LP, Mackey DA, Madden PA, Manning AK, Männistö S, Marenne G, Marten J, Martin NG, Mazul AL, Meidtner K, Metspalu A, Mitchell P, Mohlke KL, Mook-Kanamori DO, Morgan A, Morris AD, Morris AP, Müller-Nurasyid M, Munroe PB, Nalls MA, Nauck M, Nelson CP, Neville M, Nielsen SF, Nikus K, Njølstad PR, Nordestgaard BG, Ntalla I, O’Connel JR, Oksa H, Loohuis LM, Ophoff RA, Owen KR, Packard CJ, Padmanabhan S, Palmer CN, Pasterkamp G, Patel AP, Pattie A, Pedersen O, Peissig PL, Peloso GM, Pennell CE, Perola M, Perry JA, Perry JR, Person TN, Pirie A, Polasek O, Posthuma D, Raitakari OT, Rasheed A, Rauramaa R, Reilly DF, Reiner AP, Renström F, Ridker PM, Rioux JD, Robertson N, Robino A, Rolandsson O, Rudan I, Ruth KS, Saleheen D, Salomaa V, Samani NJ, Sandow K, Sapkota Y, Sattar N, Schmidt MK, Schreiner PJ, Schulze MB, Scott RA, Segura-Lepe MP, Shah S, Sim X, Sivapalaratnam S, Small KS, Smith AV, Smith JA, Southam L, Spector TD, Speliotes EK, Starr JM, Steinthorsdottir V, Stringham HM, Stumvoll M, Surendran P, ‘t Hart LM, Tansey KE, Tardif JC, Taylor KD, Teumer A, Thompson DJ, Thorsteinsdottir U, Thuesen BH, Tönjes A, Tromp G, Trompet S, Tsafantakis E, Tuomilehto J, Tybjaerg-Hansen A, Tyrer JP, Uher R, Uitterlinden AG, Ulivi S, van der Laan SW, Van Der Leij AR, van Duijn CM, van Schoor NM, van Setten J, Varbo A, Varga TV, Varma R, Edwards DR, Vermeulen SH, Vestergaard H, Vitart V, Vogt TF, Vozzi D, Walker M, Wang F, Wang CA, Wang S, Wang Y, Wareham NJ, Warren HR, Wessel J, Willems SM, Wilson JG, Witte DR, Woods MO, Wu Y, Yaghootkar H, Yao J, Yao P, Yerges-Armstrong LM, Young R, Zeggini E, Zhan X, Zhang W, Zhao JH, Zhao W, Zhao W, Zheng H, Zhou W; EPIC-InterAct Consortium.; CHD Exome+ Consortium.; ExomeBP Consortium.; T2D-Genes Consortium.; GoT2D Genes Consortium.; Global Lipids Genetics Consortium.; ReproGen Consortium.; MAGIC Investigators., Rotter JI, Boehnke M, Kathiresan S, McCarthy MI, Willer CJ, Stefansson K, Borecki IB, Liu DJ, North KE, Heard-Costa NL, Pers TH, Lindgren CM, Oxvig C, Kutalik Z, Rivadeneira F, Loos RJ, Frayling TM, Hirschhorn JN, Deloukas P, Lettre G.
Nature. 2017 Feb 1. doi: 10.1038/nature21039. [Epub ahead of print] PMID: 28146470

CNS-restricted Transduction and CRISPR/Cas9-mediated Gene Deletion with an Engineered AAV Vector.

Murlidharan G, Sakamoto K, Rao L, Corriher T, Wang D, Gao G, Sullivan P, Asokan A.
Mol Ther Nucleic Acids. 2016;5:e338. doi: 10.1038/mtna.2016.49.
PMID: 28131242

AAV Gene Therapy for MPS1-associated Corneal Blindness.

Vance M, Llanga T, Bennett W, Woodard K, Murlidharan G, Chungfat N, Asokan A, Gilger B, Kurtzberg J, Samulski RJ, Hirsch ML.
Sci Rep. 2016 Feb 22;6:22131. doi: 10.1038/srep22131.
PMID: 26899286

Assessing the Cumulative Contribution of New and Established Common Genetic Risk Factors to Early-Onset Prostate Cancer.

Lange EM, Ribado JV, Zuhlke KA, Johnson AM, Keele GR, Li J, Wang Y, Duan Q, Li G, Gao Z, Li Y, Xu J, Zheng SL, Cooney KA.
Cancer Epidemiol Biomarkers Prev. 2016 May;25(5):766-72. doi: 10.1158/1055-9965.EPI-14-0995.
PMID: 26671023

Tumor-homing cytotoxic human induced neural stem cells for cancer therapy.

Bagó JR, Okolie O, Dumitru R, Ewend MG, Parker JS, Werff RV, Underhill TM, Schmid RS, Miller CR, Hingtgen SD.
Sci Transl Med. 2017 Feb 1;9(375). pii: eaah6510. doi: 10.1126/scitranslmed.aah6510.
PMID: 28148846

Multiple variants in 5q31.1 are associated with systemic lupus erythematosus susceptibility and sub-phenotypes in the Han Chinese population.

Wen L, Zhu Z, Yang C, Liu L, Zuo X, Morris DL, Dou J, Ye L, Cheng Y, Guo H, Huang H, Lin Y, Zhu C, Tang L, Chen M, Zhou Y, Ding Y, Liang B, Zhou F, Gao J, Tang X, Zheng X, Wang W, Yin X, Tang H, Sun L, Yang S, Zhang X, Sheng Y, Cui Y.
Br J Dermatol. 2017 Feb 1. doi: 10.1111/bjd.15362. [Epub ahead of print] PMID: 28144936