Skip to main content

UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published nine papers during November 1-14, 2020.

 

 

A multivariable prognostic score to guide systemic therapy in early-stage HER2-positive breast cancer: a retrospective study with an external evaluation. 

Prat A, Guarneri V, Paré L, Griguolo G, Pascual T, Dieci MV, Chic N, González-Farré B, Frassoldati A, Sanfeliu E, Cejalvo JM, Muñoz M, Bisagni G, Brasó-Maristany F, Urso L, Vidal M, Brandes AA, Adamo B, Musolino A, Miglietta F, Conte B, Oliveira M, Saura C, Pernas S, Alarcón J, Llombart-Cussac A, Cortés J, Manso L, López R, Ciruelos E, Schettini F, Villagrasa P, Carey LA, Perou CM, Piacentini F, D’Amico R, Tagliafico E, Parker JS, Conte P.

Lancet Oncol. 2020 Nov;21(11):1455-1464. doi: 10.1016/S1470-2045(20)30450-2.

PMID: 33152285

 

Sex-dependent effects of preconception exposure to arsenite on gene transcription in parental germ cells and on transcriptomic profiles and diabetic phenotype of offspring. 

Venkatratnam A, Douillet C, Topping BC, Shi Q, Addo KA, Ideraabdullah FY, Fry RC, Styblo M.

Arch Toxicol. 2020 Nov 3. doi: 10.1007/s00204-020-02941-w. Online ahead of print.

PMID: 33145626

 

Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. 

Quach BC, Bray MJ, Gaddis NC, Liu M, Palviainen T, Minica CC, Zellers S, Sherva R, Aliev F, Nothnagel M, Young KA, Marks JA, Young H, Carnes MU, Guo Y, Waldrop A, Sey NYA, Landi MT, McNeil DW, Drichel D, Farrer LA, Markunas CA, Vink JM, Hottenga JJ, Iacono WG, Kranzler HR, Saccone NL, Neale MC, Madden P, Rietschel M, Marazita ML, McGue M, Won H, Winterer G, Grucza R, Dick DM, Gelernter J, Caporaso NE, Baker TB, Boomsma DI, Kaprio J, Hokanson JE, Vrieze S, Bierut LJ, Johnson EO, Hancock DB.

Nat Commun. 2020 Nov 3;11(1):5562. doi: 10.1038/s41467-020-19265-z.

PMID: 33144568

 

Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. 

Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH.

Epilepsia. 2020 Nov 2. doi: 10.1111/epi.16741. Online ahead of print.

PMID: 33140451

 

Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. 

Gorski M, Jung B, Li Y, Matias-Garcia PR, Wuttke M, Coassin S, Thio CHL, Kleber ME, Winkler TW, Wanner V, Chai JF, Chu AY, Cocca M, Feitosa MF, Ghasemi S, Hoppmann A, Horn K, Li M, Nutile T, Scholz M, Sieber KB, Teumer A, Tin A, Wang J, Tayo BO, Ahluwalia TS, Almgren P, Bakker SJL, Banas B, Bansal N, Biggs ML, Boerwinkle E, Bottinger EP, Brenner H, Carroll RJ, Chalmers J, Chee ML, Chee ML, Cheng CY, Coresh J, de Borst MH, Degenhardt F, Eckardt KU, Endlich K, Franke A, Freitag-Wolf S, Gampawar P, Gansevoort RT, Ghanbari M, Gieger C, Hamet P, Ho K, Hofer E, Holleczek B, Xian Foo VH, Hutri-Kähönen N, Hwang SJ, Ikram MA, Josyula NS, Kähönen M, Khor CC, Koenig W, Kramer H, Krämer BK, Kühnel B, Lange LA, Lehtimäki T, Lieb W; Lifelines cohort study; Regeneron Genetics Center, Loos RJF, Lukas MA, Lyytikäinen LP, Meisinger C, Meitinger T, Melander O, Milaneschi Y, Mishra PP, Mononen N, Mychaleckyj JC, Nadkarni GN, Nauck M, Nikus K, Ning B, Nolte IM, O’Donoghue ML, Orho-Melander M, Pendergrass SA, Penninx BWJH, Preuss MH, Psaty BM, Raffield LM, Raitakari OT, Rettig R, Rheinberger M, Rice KM, Rosenkranz AR, Rossing P, Rotter JI, Sabanayagam C, Schmidt H, Schmidt R, Schöttker B, Schulz CA, Sedaghat S, Shaffer CM, Strauch K, Szymczak S, Taylor KD, Tremblay J, Chaker L, van der Harst P, van der Most PJ, Verweij N, Völker U, Waldenberger M, Wallentin L, Waterworth DM, White HD, Wilson JG, Wong TY, Woodward M, Yang Q, Yasuda M, Yerges-Armstrong LM, Zhang Y, Snieder H, Wanner C, Böger CA, Köttgen A, Kronenberg F, Pattaro C, Heid IM.

Kidney Int. 2020 Oct 30:S0085-2538(20)31239-4. doi: 10.1016/j.kint.2020.09.030. Online ahead of print.

PMID: 33137338

 

Using RNA Sequencing to Characterize the Tumor Microenvironment. 

Smith CC, Bixby LM, Miller KL, Selitsky SR, Bortone DS, Hoadley KA, Vincent BG, Serody JS.

Methods Mol Biol. 2020;2055:245-272. doi: 10.1007/978-1-4939-9773-2_12.

PMID: 31502156

 

BAHCC1 binds H3K27me3 via a conserved BAH module to mediate gene silencing and oncogenesis. 

Fan H, Lu J, Guo Y, Li D, Zhang ZM, Tsai YH, Pi WC, Ahn JH, Gong W, Xiang Y, Allison DF, Geng H, He S, Diao Y, Chen WY, Strahl BD, Cai L, Song J, Wang GG.

Nat Genet. 2020 Nov 2. doi: 10.1038/s41588-020-00729-3. Online ahead of print.

PMID: 33139953

 

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance. 

Lee HM, Kuijer MB, Ruiz Blanes N, Clark EP, Aita M, Galiano Arjona L, Kokot A, Sciaky N, Simon JM, Bhatnagar S, Philpot BD, Cerase A.

J Neurodev Disord. 2020 Nov 10;12(1):29. doi: 10.1186/s11689-020-09332-3.

PMID: 33172406

 

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I. 

Giugliani R, Muschol N, Keenan HA, Dant M, Muenzer J.

Arch Dis Child. 2020 Nov 2:archdischild-2020-319040. doi: 10.1136/archdischild-2020-319040. Online ahead of print.

PMID: 33139350