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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 14 papers during October 17th – 30th, 2021.



Cardiac proteomics reveals sex chromosome-dependent differences between males and females that arise prior to gonad formation. 

Shi W, Sheng X, Dorr KM, Hutton JE, Emerson JI, Davies HA, Andrade TD, Wasson LK, Greco TM, Hashimoto Y, Federspiel JD, Robbe ZL, Chen X, Arnold AP, Cristea IM, Conlon FL.

Dev Cell. 2021 Oct 12:S1534-5807(21)00766-8. doi: 10.1016/j.devcel.2021.09.022. Online ahead of print.

PMID: 34655525


Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Blacks. 

Olson NC, Raffield LM, Moxley AH, Miller-Fleming TW, Auer PL, Franceschini N, Ngo D, Thornton TA, Lange EM, Li Y, Nickerson DA, Zakai NA, Gerszten RE, Cox NJ, Correa A, Mohlke KL, Reiner AP.

Circ Genom Precis Med. 2021 Oct 28:CIRCGEN121003421. doi: 10.1161/CIRCGEN.121.003421. Online ahead of print.

PMID: 34706549


Integration of DNA sequencing with population pharmacokinetics to improve the prediction of irinotecan exposure in cancer patients. 

Karas S, Etheridge AS, Nickerson DA, Cox NJ, Mohlke KL, Cecchin E, Toffoli G, Mathijssen RHJ, Forrest A, Bies RR, Innocenti F.

Br J Cancer. 2021 Oct 26. doi: 10.1038/s41416-021-01589-2. Online ahead of print.

PMID: 34703007


Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci. 

Perrin HJ, Currin KW, Vadlamudi S, Pandey GK, Ng KK, Wabitsch M, Laakso M, Love MI, Mohlke KL.

PLoS Genet. 2021 Oct 26;17(10):e1009865. doi: 10.1371/journal.pgen.1009865. Online ahead of print.

PMID: 34699533


Impact of intracellular innate immune receptors on immunometabolism. 

Chou WC, Rampanelli E, Li X, Ting JP.

Cell Mol Immunol. 2021 Oct 25. doi: 10.1038/s41423-021-00780-y. Online ahead of print.

PMID: 34697412 Review.


Long-read sequencing to interrogate strain-level variation among adherent-invasive Escherichia coli isolated from human intestinal tissue. 

Wang J, Bleich RM, Zarmer S, Zhang S, Dogan B, Simpson KW, Arthur JC.

PLoS One. 2021 Oct 28;16(10):e0259141. doi: 10.1371/journal.pone.0259141. eCollection 2021.

PMID: 34710159


Utilizing ClinGen Gene-Disease Validity and Dosage Sensitivity Curations to Inform Variant Classification. 

Thaxton C, Good ME, DiStefano MT, Luo X, Andersen EF, Thorland E, Berg J, Martin CL, Rehm HL, Riggs ER; ClinGen Gene Curation and Dosage Sensitivity Working Groups.

Hum Mutat. 2021 Oct 25. doi: 10.1002/humu.24291. Online ahead of print.

PMID: 34694049


The Emulsifier Carboxymethylcellulose Induces More Aggressive Colitis in Humanized Mice with Inflammatory Bowel Disease Microbiota Than Polysorbate-80. 

Rousta E, Oka A, Liu B, Herzog J, Bhatt AP, Wang J, Habibi Najafi MB, Sartor RB.

Nutrients. 2021 Oct 12;13(10):3565. doi: 10.3390/nu13103565.

PMID: 34684567 Free PMC article.


Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice. 

Judson MC, Shyng C, Simon JM, Davis CR, Punt AM, Salmon MT, Miller NW, Ritola KD, Elgersma Y, Amaral DG, Gray SJ, Philpot BD.

JCI Insight. 2021 Oct 22;6(20):e144712. doi: 10.1172/jci.insight.144712.

PMID: 34676830


Gene level germline contributions to clinical risk of recurrence scores in Black and White breast cancer patients. 

Patel A, Garcia-Closas M, Olshan AF, Perou CM, Troester MA, Love MI, Bhattacharya A.

Cancer Res. 2021 Oct 28:canres.1207.2021. doi: 10.1158/0008-5472.CAN-21-1207. Online ahead of print.

PMID: 34711612.


Pparg signaling controls bladder cancer subtype and immune exclusion. 

Tate T, Xiang T, Wobker SE, Zhou M, Chen X, Kim H, Batourina E, Lin CS, Kim WY, Lu C, Mckiernan JM, Mendelsohn CL.

Nat Commun. 2021 Oct 25;12(1):6160. doi: 10.1038/s41467-021-26421-6.

PMID: 34697317


The commercial genetic testing landscape for Parkinson’s disease. 

Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson’s Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson’s Disease Clinical Genome Resource (ClinGen) Parkinson’s Disease Gene Curation Expert Panel Authors (Thaxton, C); Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson’s Disease Authors.

Parkinsonism Relat Disord. 2021 Oct 19:S1353-8020(21)00356-4. doi: 10.1016/j.parkreldis.2021.10.001. Online ahead of print.

PMID: 34696975


Biochemical and rheological analysis of human colonic culture mucus reveals similarity to gut mucus. 

Howard RL, Markovetz M, Wang Y, Ehre C, Sheikh S, Allbritton NL, Hill DB.

Biophys J. 2021 Oct 22:S0006-3495(21)00883-3. doi: 10.1016/j.bpj.2021.10.024. Online ahead of print.

PMID: 34695384


Forecasting emergency department hourly occupancy using time series analysis. 

Cheng Q, Argon NT, Evans CS, Liu Y, Platts-Mills TF, Ziya S.

Am J Emerg Med. 2021 Oct;48:177-182. doi: 10.1016/j.ajem.2021.04.075. Epub 2021 Apr 29.

PMID: 33964692