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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 16 papers during January 15th – 28th, 2023.

 

Unravelling the link between sleep and mental health during the COVID-19 pandemic. 

González-Hijón J, Kähler AK, Frans EM, Valdimarsdóttir UA, Sullivan PF, Fang F, Lovik A.

Stress Health. 2023 Jan 17. doi: 10.1002/smi.3223. Online ahead of print.

PMID: 36649144

 

TET Proteins in the Spotlight: Emerging Concepts of Epigenetic Regulation in T Cell Biology. 

Tsagaratou A.

Immunohorizons. 2023 Jan 1;7(1):106-115. doi: 10.4049/immunohorizons.2200067.

PMID: 36645853

 

Random allelic expression in the adult human body. 

Kravitz SN, Ferris E, Love MI, Thomas A, Quinlan AR, Gregg C.

Cell Rep. 2023 Jan 5;42(1):111945. doi: 10.1016/j.celrep.2022.111945. Online ahead of print.

PMID: 36640362

 

Optineurin regulates NRF2-mediated antioxidant response in a mouse model of Paget’s disease of bone. 

Hu X, Wong SW, Liang K, Wu TH, Wang S, Wang L, Liu J, Yamauchi M, Foster BL, Ting JP, Zhao B, Tseng HC, Ko CC.

Sci Adv. 2023 Jan 27;9(4):eade6998. doi: 10.1126/sciadv.ade6998. Epub 2023 Jan 27.

PMID: 36706179

 

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. 

Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Brucker SY, Buys SS, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Chung WK; NBCS Collaborators; Colonna SV; CTS Consortium; Cornelissen S, Couch FJ, Czene K, Daly MB, Devilee P, Dörk T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Evans DG, Fasching PA, Fletcher O, Flyger H, Gago-Dominguez M, Gao YT, García-Closas M, García-Sáenz JA, Genkinger J, Gentry-Maharaj A, Grassmann F, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Harkness EF, Harrington PA, Hartikainen JM, Hartman M, Hein A, Ho WK, Hooning MJ, Hoppe R, Hopper JL, Houlston RS, Howell A, Hunter DJ, Huo D; ABCTB Investigators; Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kang D, Khusnutdinova EK, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Le Marchand L, Li J, Linet M, Lo WY, Long J, Lophatananon A, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Menon U, Muir K, Murphy RA, Nevanlinna H, Newman WG, Niederacher D, O’Brien KM, Obi N, Offit K, Olopade OI, Olshan AF, Olsson H, Park SK, Patel AV, Patel A, Perou CM, Peto J, Pharoah PDP, Plaseska-Karanfilska D, Presneau N, Rack B, Radice P, Ramachandran D, Rashid MU, Rennert G, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneider MO, Scott C, Shah M, Sharma P, Shen CY, Shu XO, Simard J, Surowy H, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejía G, Troester MA, Truong T, Vachon CM, Vijai J, Weinberg CR, Wendt C, Winqvist R, Wolk A, Wu AH, Yamaji T, Yang XR, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Easton DF, Hemingway H, Hamann U, Kuchenbaecker KB.

Genome Med. 2023 Jan 26;15(1):7. doi: 10.1186/s13073-022-01152-5.

PMID: 36703164

 

Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing. 

Chen F, Wang X, Jang SK, Quach BC, Weissenkampen JD, Khunsriraksakul C, Yang L, Sauteraud R, Albert CM, Allred NDD, Arnett DK, Ashley-Koch AE, Barnes KC, Barr RG, Becker DM, Bielak LF, Bis JC, Blangero J, Boorgula MP, Chasman DI, Chavan S, Chen YI, Chuang LM, Correa A, Curran JE, David SP, Fuentes LL, Deka R, Duggirala R, Faul JD, Garrett ME, Gharib SA, Guo X, Hall ME, Hawley NL, He J, Hobbs BD, Hokanson JE, Hsiung CA, Hwang SJ, Hyde TM, Irvin MR, Jaffe AE, Johnson EO, Kaplan R, Kardia SLR, Kaufman JD, Kelly TN, Kleinman JE, Kooperberg C, Lee IT, Levy D, Lutz SM, Manichaikul AW, Martin LW, Marx O, McGarvey ST, Minster RL, Moll M, Moussa KA, Naseri T, North KE, Oelsner EC, Peralta JM, Peyser PA, Psaty BM, Rafaels N, Raffield LM, Reupena MS, Rich SS, Rotter JI, Schwartz DA, Shadyab AH, Sheu WH, Sims M, Smith JA, Sun X, Taylor KD, Telen MJ, Watson H, Weeks DE, Weir DR, Yanek LR, Young KA, Young KL, Zhao W, Hancock DB, Jiang B, Vrieze S, Liu DJ.

Nat Genet. 2023 Jan 26. doi: 10.1038/s41588-022-01282-x. Online ahead of print.

PMID: 36702996

 

CTCF: an R/bioconductor data package of human and mouse CTCF binding sites. 

Dozmorov MG, Mu W, Davis ES, Lee S, Triche TJ Jr, Phanstiel DH, Love MI.

Bioinform Adv. 2022 Dec 16;2(1):vbac097. doi: 10.1093/bioadv/vbac097. eCollection 2022.

PMID: 36699364 Free PMC article.

 

Loci for insulin processing and secretion provide insight into type 2 diabetes risk. 

Broadaway KA, Yin X, Williamson A, Parsons VA, Wilson EP, Moxley AH, Vadlamudi S, Varshney A, Jackson AU, Ahuja V, Bornstein SR, Corbin LJ, Delgado GE, Dwivedi OP, Silva LF, Frayling TM, Grallert H, Gustafsson S, Hakaste L, Hammar U, Herder C, Herrmann S, Højlund K, Hughes DA, Kleber ME, Lindgren CM, Liu CT, Luan J, Malmberg A, Moissl AP, Morris AP, Perakakis N, Peters A, Petrie JR, Roden M, Schwarz PEH, Sharma S, Silveira A, Strawbridge RJ, Tuomi T, Wood AR, Wu P, Zethelius B, Baldassarre D, Eriksson JG, Fall T, Florez JC, Fritsche A, Gigante B, Hamsten A, Kajantie E, Laakso M, Lahti J, Lawlor DA, Lind L, März W, Meigs JB, Sundström J, Timpson NJ, Wagner R, Walker M, Wareham NJ, Watkins H, Barroso I, O’Rahilly S, Grarup N, Parker SC, Boehnke M, Langenberg C, Wheeler E, Mohlke KL.

Am J Hum Genet. 2023 Jan 18:S0002-9297(23)00002-2. doi: 10.1016/j.ajhg.2023.01.002. Online ahead of print.

PMID: 36693378

 

Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial. 

Waltz M, Yan H, Cadigan RJ, Canter C, Bain L, Bensen JT, Conway C, Haldeman-Englert C, Farnan L, M Foreman AK, Grant TL, Leach B, Lin FC, Mahla M, O’Daniel JM, O’Neill SC, Smith G, Powell BC, Berg JS, Rini CM.

Patient Educ Couns. 2023 Jan 2;109:107620. doi: 10.1016/j.pec.2022.107620. Online ahead of print.

PMID: 36689884

 

Uromodulin and CKD: insight into variant pathogenicity. 

Franceschini N, Berg JS.

Kidney Int. 2023 Feb;103(2):248-250. doi: 10.1016/j.kint.2022.11.018.

PMID: 36681451 No abstract available.

 

Viewing RCC with a DNA methylation lens ENHANCES understanding of ICI resistance. 

Zhou M, Kim WY.

Clin Cancer Res. 2023 Jan 26:CCR-22-3574. doi: 10.1158/1078-0432.CCR-22-3574. Online ahead of print.

PMID: 36700785

 

Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes? 

Talati AN, Gilmore KL, Hardisty EE, Lyerly AD, Rini C, Vora NL.

Prenat Diagn. 2023 Jan 23. doi: 10.1002/pd.6318. Online ahead of print.

PMID: 36690925

 

Airway Findings in Patients with Hunter Syndrome Treated with Intravenous Idursulfase. 

De Vuyst R, Jalazo E, Tsujimoto TM, Lin FC, Muenzer J, Muhlebach MS.

J Clin Med. 2023 Jan 6;12(2):480. doi: 10.3390/jcm12020480.

PMID: 36675409 Free PMC article.

 

Regulation of EWSR1-FLI1 Function by Post-Transcriptional and Post-Translational Modifications. 

Yu L, Davis IJ, Liu P.

Cancers (Basel). 2023 Jan 6;15(2):382. doi: 10.3390/cancers15020382.

PMID: 36672331 Free PMC article. Review.

 

A guide to naming eukaryotic circular RNAs. 

Chen LL, Bindereif A, Bozzoni I, Chang HY, Matera AG, Gorospe M, Hansen TB, Kjems J, Ma XK, Pek JW, Rajewsky N, Salzman J, Wilusz JE, Yang L, Zhao F.

Nat Cell Biol. 2023 Jan;25(1):1-5. doi: 10.1038/s41556-022-01066-9.

PMID: 36658223 No abstract available.

 

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. 

Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M.

Am J Med Genet A. 2023 Jan 18. doi: 10.1002/ajmg.a.63097. Online ahead of print.

PMID: 36651673