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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 14 papers during December 3rd – 16th, 2023.


The TLR2/TLR6 ligand FSL-1 mitigates radiation-induced hematopoietic injury in mice and nonhuman primates. 

Brickey WJ, Caudell DL, Macintyre AN, Olson JD, Dai Y, Li S, Dugan GO, Bourland JD, O’Donnell LM, Tooze JA, Huang G, Yang S, Guo H, French MN, Schorzman AN, Zamboni WC, Sempowski GD, Li Z, Owzar K, Chao NJ, Cline JM, Ting JPY.

Proc Natl Acad Sci U S A. 2023 Dec 12;120(50):e2122178120. doi: 10.1073/pnas.2122178120. Epub 2023 Dec 5.

PMID: 38051771



Xiang S, Zhang W, Liu S, Hoadley KA, Perou CM, Zhang K, Marron JS.

Ann Appl Stat. 2023 Dec;17(4):2924-2943. doi: 10.1214/23-aoas1745. Epub 2023 Oct 30.

PMID: 38046186 Free PMC article.


BPIFB1 loss alters airway mucus properties and diminishes mucociliary clearance. 

Donoghue LJ, Markovetz MR, Morrison CB, Chen G, McFadden KM, Sadritabrizi T, Gutay MI, Kato T, Rogers TD, Snead JY, Livraghi-Butrico A, Button B, Ehre C, Grubb BR, Hill DB, Kelada SNP.

Am J Physiol Lung Cell Mol Physiol. 2023 Dec 1;325(6):L765-L775. doi: 10.1152/ajplung.00390.2022. Epub 2023 Oct 17.

PMID: 37847709


Tamoxifen Response at Single-Cell Resolution in Estrogen Receptor-Positive Primary Human Breast Tumors. 

Kim H, Whitman AA, Wisniewska K, Kakati RT, Garcia-Recio S, Calhoun BC, Franco HL, Perou CM, Spanheimer PM.

Clin Cancer Res. 2023 Dec 1;29(23):4894-4907. doi: 10.1158/1078-0432.CCR-23-1248.

PMID: 37747807 Free PMC article.


The Association of Epigenetic Age Acceleration and Multimorbidity at Age 90 in the Women’s Health Initiative. 

Jain P, Binder A, Chen B, Parada H Jr, Gallo LC, Alcaraz J, Horvath S, Bhatti P, Whitsel EA, Jordahl K, Baccarelli AA, Hou L, Stewart JD, Li Y, LaMonte MJ, Manson JE, LaCroix AZ.

J Gerontol A Biol Sci Med Sci. 2023 Dec 1;78(12):2274-2281. doi: 10.1093/gerona/glac190.

PMID: 36107798 Free PMC article.


BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation. 

Musa RE, Lester KL, Quickstad GA, Vardabasso S, Shumate TV, Salcido RT, Ge K, Shpargel KB.

Development. 2023 Dec 8:dev.202110. doi: 10.1242/dev.202110. Online ahead of print.

PMID: 38063851


Individual and Neighborhood-level Socioeconomic Status and Somatic Mutations Associated With Increased Risk of Cardiovascular Disease and Mortality: A Cross-Sectional Analysis in the Women’s Health Initiative. 

Love SM, Collins JM, Anthony KM, Buchheit SF, Butler EN, Bey GS, Gondalia R, Hayden KM, Zannas AS, Bick AG, Manson JE, Desai PM, Natarajan P, Bhattacharya R, Jaiswal S, Barac A, Reiner A, Kooperberg C, Stewart JD, Whitsel EA.

Womens Health Issues. 2023 Dec 6:S1049-3867(23)00186-X. doi: 10.1016/j.whi.2023.10.005. Online ahead of print.

PMID: 38061917


Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis. 

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F.

Prenat Diagn. 2023 Dec 6. doi: 10.1002/pd.6466. Online ahead of print.

PMID: 38054560


Near complete response to platinum-based systemic chemotherapy in high-risk upper tract urothelial carcinoma (UTUC) with an ERBB2 gene mutation: A Case Report. 

Weiss K, Abimbola O, Miller K, Kim WY, Rose TL, Bjurlin MA, Gessner KH.

Urology. 2023 Dec 3:S0090-4295(23)01054-3. doi: 10.1016/j.urology.2023.11.019. Online ahead of print.

PMID: 38052324


Nonparametric prediction distribution from resolution-wise regression with heterogeneous data. 

Li J, Zhang W, Wang P, Li Q, Zhang K, Liu Y.

J Bus Econ Stat. 2023;41(4):1157-1172. doi: 10.1080/07350015.2022.2115498. Epub 2022 Oct 6.

PMID: 38046827


Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. 

Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL.

Eur J Hum Genet. 2023 Dec 14. doi: 10.1038/s41431-023-01489-4. Online ahead of print.

PMID: 38097767


Histone locus bodies: a paradigm for how nuclear biomolecular condensates control cell cycle regulated gene expression. 

Geisler MS, Kemp JP Jr, Duronio RJ.

Nucleus. 2023 Dec;14(1):2293604. doi: 10.1080/19491034.2023.2293604. Epub 2023 Dec 14.

PMID: 38095604


Spatial Relationships in the Tumor Microenvironment Demonstrate Association with Pathologic Response to Neoadjuvant Chemoimmunotherapy in Muscle-invasive Bladder Cancer. 

Beckabir W, Wobker SE, Damrauer JS, Midkiff B, De la Cruz G, Makarov V, Flick L, Woodcock MG, Grivas P, Bjurlin MA, Harrison MR, Vincent BG, Rose TL, Gupta S, Kim WY, Milowsky MI.

Eur Urol. 2023 Dec 12:S0302-2838(23)03261-X. doi: 10.1016/j.eururo.2023.11.008. Online ahead of print.

PMID: 38092611


Long-Term Outcomes after Abdominal Radiation for Wilms Tumor: A 20-Year Experience. 

Conte B, Shen C, Thompson P, Davis I, Casey DL.

Am J Clin Oncol. 2023 Dec 13. doi: 10.1097/COC.0000000000001074. Online ahead of print.

PMID: 38088232