Department of Genetics Publications August 8th – 21st, 2021

Department of Genetics faculty, postdocs, students and collaborators published 18 papers during August 8^th – 21^st, 2021.

Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies. 

Sun Q, Graff M, Rowland B, Wen J, Huang L, Miller-Fleming TW, Haessler J, Preuss MH, Chai JF, Lee MP, Avery CL, Cheng CY, Franceschini N, Sim X, Cox NJ, Kooperberg C, North KE, Li Y, Raffield LM.

J Hum Genet. 2021 Aug 11. doi: 10.1038/s10038-021-00968-0. Online ahead of print.

PMID: 34376796

 

Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants. 

Stanislawski MA, Lange LA, Raffield LM, Zakai NA, Meyer M, Ferrier K, Szeto MD, Leavitt C, Shortt JA, Thornton TA, Tracy RP, Auer PL, Reiner AP, Lange EM, Olson NC.

Arterioscler Thromb Vasc Biol. 2021 Jun;41(6):e369-e378. doi: 10.1161/ATVBAHA.121.316035. Epub 2021 Apr 29.

PMID: 33910371

 

Radiation-induced phosphorylation of a prion-like domain regulates transformation by FUS-CHOP. 

Chen M, Foster JP, Lock IC, Leisenring NH, Daniel AR, Floyd W, Xu E, Davis IJ, Kirsch DG.

Cancer Res. 2021 Aug 12:canres.1497.2020. doi: 10.1158/0008-5472.CAN-20-1497. Online ahead of print.

PMID: 34385184

 

Adrenomedullin: new inhibitory regulator for cortisol synthesis and secretion. 

Travers S, Martinerie L, Xue QY, Perrot J, Viengchareun S, Caron KM, Blakeney ES, Boileau P, Lombes M, Pussard E.

J Endocrinol. 2021 Aug 1:JOE-20-0564.R3. doi: 10.1530/JOE-20-0564. Online ahead of print.

PMID: 34370692

 

Meiotic Crossover Patterning. 

Pazhayam NM, Turcotte CA, Sekelsky J

Front Cell Dev Biol. 2021 Jul 22;9:681123. doi: 10.3389/fcell.2021.681123. eCollection 2021.

PMID: 34368131 Free PMC article. Review.

 

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries. 

Elstein D, Giugliani R, Muenzer J, Schenk J, Schwartz IVD, Anagnostopoulou C.

Mol Genet Metab Rep. 2021 Sep;28:100788. doi: 10.1016/j.ymgmr.2021.100788. Epub 2021 Aug 4.

PMID: 34367919 Free PMC article.

 

MODEL FREE ESTIMATION OF GRAPHICAL MODEL USING GENE EXPRESSION DATA. 

Yang J, Liu Y, Liu Y, Sun W.

Ann Appl Stat. 2021 Mar;15(1):194-207. doi: 10.1214/20-AOAS1380. Epub 2021 Mar 18.

PMID: 34367406 Free PMC article.

 

Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer. 

Gupta K, Wen Y, Ninan NS, Raimer AC, Sharp R, Spring AM, Sarachan KL, Johnson MC, Van Duyne GD, Matera AG.

Nucleic Acids Res. 2021 Jul 21;49(13):7644-7664. doi: 10.1093/nar/gkab508.

PMID: 34181727 Free PMC article.

 

Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis. 

Aygün N, Elwell AL, Liang D, Lafferty MJ, Cheek KE, Courtney KP, Mory J, Hadden-Ford E, Krupa O, de la Torre-Ubieta L, Geschwind DH, Love MI, Stein JL.

Am J Hum Genet. 2021 Aug 13:S0002-9297(21)00279-2. doi: 10.1016/j.ajhg.2021.07.011. Online ahead of print.

PMID: 34416157

 

MultiK: an automated tool to determine optimal cluster numbers in single-cell RNA sequencing data. 

Liu S, Thennavan A, Garay JP, Marron JS, Perou CM.

Genome Biol. 2021 Aug 19;22(1):232. doi: 10.1186/s13059-021-02445-5.

PMID: 34412669

 

Entinostat induces antitumor immune responses through immune editing of tumor neoantigens. 

Truong AS, Zhou M, Krishnan B, Utsumi T, Manocha U, Stewart KG, Beck W, Rose TL, Milowsky MI, He X, Smith CC, Bixby LM, Perou CM, Wobker SE, Bailey ST, Vincent BG, Kim WY.

J Clin Invest. 2021 Aug 16;131(16):e138560. doi: 10.1172/JCI138560.

PMID: 34396985

 

Host Genetic Risk Factors for Chlamydia trachomatis-Related Infertility in Women. 

Zheng X, Zhong W, O’Connell CM, Liu Y, Haggerty CL, Geisler WM, Anyalechi GE, Kirkcaldy RD, Wiesenfeld HC, Hillier SL, Steinkampf MP, Hammond KR, Fine J, Li Y, Darville T.

J Infect Dis. 2021 Aug 16;224(Supplement_2):S64-S71. doi: 10.1093/infdis/jiab149.

PMID: 34396400

 

A machine learning approach identifies 5-ASA and ulcerative colitis as being linked with higher COVID-19 mortality in patients with IBD. 

Roy S, Sheikh SZ, Furey TS.

Sci Rep. 2021 Aug 13;11(1):16522. doi: 10.1038/s41598-021-95919-2.

PMID: 34389789 Free PMC article.

 

Transcriptome-Wide Regulation of Key Developmental Pathways in the Mouse Neural Tube by Prenatal Alcohol Exposure. 

Boschen KE, Ptacek TS, Simon JM, Parnell SE.

Alcohol Clin Exp Res. 2020 Aug;44(8):1540-1550. doi: 10.1111/acer.14389. Epub 2020 Jul 1.

PMID: 32557641 Free PMC article.

 

The View from the Benches: Scientists’ Perspectives on the Uses and Governance of Human Gene-Editing Research. 

Waltz M, Juengst ET, Edwards T, Henderson GE, Kuczynski KJ, Conley JM, Della-Penna P, Cadigan RJ.

CRISPR J. 2021 Aug;4(4):609-615. doi: 10.1089/crispr.2021.0038.

PMID: 34406038

 

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. 

Guimier A, Achleitner MT, de Bellaing AM, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.

Genet Med. 2021 Aug 16. doi: 10.1038/s41436-021-01296-6. Online ahead of print.

PMID: 34400813

 

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration. 

Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R; Duke AHC Research Group; French AHC Consortium, Arzimanoglou A, Panagiotakaki E, Mikati MA.

Brain Commun. 2021 Jun 4;3(3):fcab128. doi: 10.1093/braincomms/fcab128. eCollection 2021.

PMID: 34396101 Free PMC article.

 

Pilot Study of [¹⁸F] Fluorodeoxyglucose Positron Emission Tomography (FDG-PET)/Magnetic Resonance Imaging (MRI) for Staging of Muscle-invasive Bladder Cancer (MIBC). 

Eulitt PJ, Altun E, Sheikh A, Wong TZ, Woods ME, Rose TL, Wallen EM, Pruthi RS, Smith AB, Nielsen ME, Whang YE, Kim WY, Godley PA, Basch EM, David GU, Ramirez J, Deal AM, Rathmell WK, Chen RC, Bjurlin MA, Lin W, Lee JK, Milowsky MI.

Clin Genitourin Cancer. 2020 Oct;18(5):378-386.e1. doi: 10.1016/j.clgc.2020.02.008. Epub 2020 Mar 6.

PMID: 32147364