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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 19 papers during October 23rd – November 5th, 2022.

 

Rare and common autism risk variants converge across 16p. 

Won H, Huguet G, Jacquemont S.

Nat Genet. 2022 Oct 27. doi: 10.1038/s41588-022-01219-4. Online ahead of print.

PMID: 36303073 No abstract available.

 

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. 

Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O’Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group, Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X.

Nat Methods. 2022 Oct 27. doi: 10.1038/s41592-022-01640-x. Online ahead of print.

PMID: 36303018

 

Zinc cyclic di-AMP nanoparticles target and suppress tumours via endothelial STING activation and tumour-associated macrophage reinvigoration. 

Yang K, Han W, Jiang X, Piffko A, Bugno J, Han C, Li S, Liang H, Xu Z, Zheng W, Wang L, Wang J, Huang X, Ting JPY, Fu YX, Lin W, Weichselbaum RR.

Nat Nanotechnol. 2022 Oct 27. doi: 10.1038/s41565-022-01225-x. Online ahead of print.

PMID: 36302963

 

Annotating genetic variants to target genes using H-MAGMA. 

Sey NYA, Pratt BM, Won H.

Nat Protoc. 2022 Oct 26. doi: 10.1038/s41596-022-00745-z. Online ahead of print.

PMID: 36289406 Review.

 

The collaborative cross strains and their founders vary widely in cocaine-induced behavioral sensitization. 

Schoenrock SA, Gagnon L, Olson A, Leonardo M, Philip VM, He H, Reinholdt LG, Sukoff Rizzo SJ, Jentsch JD, Chesler EJ, Tarantino LM.

Front Behav Neurosci. 2022 Oct 5;16:886524. doi: 10.3389/fnbeh.2022.886524. eCollection 2022.

PMID: 36275853 Free PMC article.

 

COVID-19 Vaccines and the Virus: Impact on Drug Metabolism and Pharmacokinetics. 

McColl ER, Croyle MA, Zamboni WC, Honer WG, Heise M, Piquette-Miller M, Goralski KB.

Drug Metab Dispos. 2022 Oct 23:DMD-AR-2022-000934. doi: 10.1124/dmd.122.000934. Online ahead of print.

PMID: 36273826

 

A cryptic transactivation domain of EZH2 binds AR and AR’s splice variant, promoting oncogene activation and tumorous transformation. 

Wang J, Park KS, Yu X, Gong W, Earp HS, Wang GG, Jin J, Cai L.

Nucleic Acids Res. 2022 Oct 27:gkac861. doi: 10.1093/nar/gkac861. Online ahead of print.

PMID: 36300627

 

A genome-wide gene-based gene-environment interaction study of breast cancer in more than 90,000 women. 

Wang X, Chen H, Middha Kapoor P, Su YR, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Michailidou K, Pharoah PDP, Hopper JL, Southey MC, Koutros S, Beane Freeman LE, Stone J, Rennert G, Shibli R, Murphy RA, Aronson K, Guénel P, Truong T, Teras LR, Hodge JM, Canzian F, Kaaks R, Brenner H, Arndt V, Hoppe R, Lo WY, Behrens S, Mannermaa A, Kosma VM, Jung A, Becher H, Giles GG, Haiman CA, Maskarinec G, Scott C, Winham S, Simard J, Goldberg MS, Zheng W, Long J, Troester MA, Love MI, Peng C, Tamimi R, Eliassen H, García-Closas M, Figueroa J, Ahearn T, Yang R, Evans DG, Howell A, Hall P, Czene K, Wolk A, Sandler DP, Taylor JA, Swerdlow AJ, Orr N, Lacey JV, Wang S, Olsson H, Easton DF, Milne RL, Hsu L, Kraft P, Chang-Claude J, Lindström S.

Cancer Res Commun. 2022 Apr;2(4):211-219. doi: 10.1158/2767-9764.CRC-21-0119. Epub 2022 Apr 8.

PMID: 36303815 Free PMC article.

 

The Effect of Repeat Length on Marcal1-Dependent Single-Strand Annealing in Drosophila. 

Dewey EB, Holsclaw JK, Saghaey K, Wittmer ME, Sekelsky J.

Genetics. 2022 Oct 27:iyac164. doi: 10.1093/genetics/iyac164. Online ahead of print.

PMID: 36303322

 

Sanfilippo syndrome: consensus guidelines for clinical care. 

Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O’Neill C; MPS III Guideline Development Group.

Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6.

PMID: 36303195 Review.

 

First-in-human in vivo genome editing via AAV-zinc finger nucleases for mucopolysaccharidosis I/II and hemophilia B. 

Harmatz P, Prada CE, Burton BK, Lau H, Kessler CM, Cao L, Falaleeva M, Villegas AG, Zeitler J, Meyer K, Miller W, Foo CWP, Vaidya S, Swenson W, Shiue LH, Rouy D, Muenzer J.

Mol Ther. 2022 Oct 25:S1525-0016(22)00622-0. doi: 10.1016/j.ymthe.2022.10.010. Online ahead of print.

PMID: 36299240

 

Disentangling the developmental origins of a novel phenotype: enhancement versus reversal of environmentally induced gene expression. 

Levis NA, McKay DJ, Pfennig DW.

Proc Biol Sci. 2022 Oct 26;289(1985):20221764. doi: 10.1098/rspb.2022.1764. Epub 2022 Oct 26.

PMID: 36285495

 

TRAF3IP2-IL-17 Axis Strengthens the Gingival Defense against Pathogens. 

Zhang J, Sun L, Withanage MHH, Ganesan SM, Williamson MA, Marchesan JT, Jiao Y, Teles FR, Yu N, Liu Y, Wu D, Moss KL, Mangalam AK, Zeng E, Lei YL, Zhang S.

J Dent Res. 2022 Oct 24:220345221123256. doi: 10.1177/00220345221123256. Online ahead of print.

PMID: 36281065

 

Cost-effectiveness of ultrasound at the time of non-invasive prenatal screening for fetal aneuploidy. 

Battarbee AN, Vora NL, Hardisty EE, Stamilio DM.

Ultrasound Obstet Gynecol. 2022 Oct 23. doi: 10.1002/uog.26100. Online ahead of print.

PMID: 36273429

 

Temporal analysis suggests a reciprocal relationship between 3D chromatin structure and transcription. 

Reed KSM, Davis ES, Bond ML, Cabrera A, Thulson E, Quiroga IY, Cassel S, Woolery KT, Hilton I, Won H, Love MI, Phanstiel DH.

Cell Rep. 2022 Nov 1;41(5):111567. doi: 10.1016/j.celrep.2022.111567.

PMID: 36323252

 

Race and Ancestry in Immune Response to Breast Cancer. 

Hamilton AM, Hoadley KA, Troester MA.

Cancer Discov. 2022 Nov 2;12(11):2496-2497. doi: 10.1158/2159-8290.CD-22-0852.

PMID: 36321309

 

Circulating Soluble CD163, Associations With Cardiovascular Outcomes and Mortality, and Identification of Genetic Variants in Older Individuals: The Cardiovascular Health Study. 

Durda P, Raffield LM, Lange EM, Olson NC, Jenny NS, Cushman M, Deichgraeber P, Grarup N, Jonsson A, Hansen T, Mychaleckyj JC, Psaty BM, Reiner AP, Tracy RP, Lange LA.

J Am Heart Assoc. 2022 Nov;11(21):e024374. doi: 10.1161/JAHA.121.024374. Epub 2022 Oct 31.

PMID: 36314488

 

The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey. 

Waltz M, Canter C, Bensen JT, Berg JS, Foreman AKM, Grant TL, Hassmiller Lich K, Navas A, O’Daniel JM, Powell BC, Rini CM, Staley BS, Cadigan RJ.

Phys Occup Ther Pediatr. 2022 Oct 30:1-15. doi: 10.1080/01942638.2022.2138734. Online ahead of print.

PMID: 36310386

 

A Locus on Chromosome 15 Contributes to Acute Ozone-induced Lung Injury in Collaborative Cross Mice. 

Tovar A, Smith GJ, Nalesnik MB, Thomas JM, McFadden KM, Harkema JR, Kelada SNP.

Am J Respir Cell Mol Biol. 2022 Nov;67(5):528-538. doi: 10.1165/rcmb.2021-0326OC.

PMID: 35816602