Department of Genetics Publications for September 1st-14th, 2024

Department of Genetics faculty, postdocs, students and collaborators published 23 papers during September 1st – 14th, 2024.

 

Structure Activity of β-Amidomethyl Vinyl Sulfones as Covalent Inhibitors of Chikungunya nsP2 Cysteine Protease with Antialphavirus Activity. 

Ghoshal A, Asressu KH, Hossain MA, Brown PJ, Nandakumar M, Vala A, Merten EM, Sears JD, Law I, Burdick JE, Morales NL, Perveen S, Pearce KH, Popov KI, Moorman NJ, Heise MT, Willson TM.

J Med Chem. 2024 Sep 5. doi: 10.1021/acs.jmedchem.4c01346. Online ahead of print.

PMID: 39235978

 

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype. 

Sneddon TP, Gilmore KL, Xiong M, Weck KE, Powell BC, Vora NL.

Am J Med Genet A. 2024 Sep 5:e63861. doi: 10.1002/ajmg.a.63861. Online ahead of print.

PMID: 39235309

 

SnapHiC-G: identifying long-range enhancer-promoter interactions from single-cell Hi-C data via a global background model. 

Liu W, Zhong W, Giusti-Rodríguez P, Jiang Z, Wang GW, Sun H, Hu M, Li Y.

Brief Bioinform. 2024 Jul 25;25(5):bbae426. doi: 10.1093/bib/bbae426.

PMID: 39222061 Free PMC article.

 

A Phase I Trial of Alpelisib Combined With Capecitabine in Patients With HER2-Negative Metastatic Breast Cancer. 

File DM, Abdou Y, Force J, Moore DT, Anders CK, Reeder-Hayes K, Carey LA, Muss HB, Perou CM, Marcom PK, Dees EC.

Clin Breast Cancer. 2024 Aug 8:S1526-8209(24)00213-1. doi: 10.1016/j.clbc.2024.08.001. Online ahead of print.

PMID: 39217059

 

Post-operative Crohn’s Disease Recurrence and Infectious Complications: A Transcriptomic Analysis. 

Chen KA, Gartner V, Darlington KC, Silverstein SR, Kennedy Ng MM, Butler L, Avalos K, Nishiyama NC, Joisa CU, Schaner MR, Lian G, Beasley C, Lau GW, Bauer MJ, Zhu LC, Kapadia MR, Gomez SM, Furey TS, Sheikh SZ.

Dig Dis Sci. 2024 Aug 31. doi: 10.1007/s10620-024-08595-3. Online ahead of print.

PMID: 39215865

 

Distinct biological signature and modifiable risk factors underlie the comorbidity between major depressive disorder and cardiovascular disease. 

Bergstedt J, Pasman JA, Ma Z, Harder A, Yao S, Parker N, Treur JL, Smit DJA, Frei O, Shadrin AA, Meijsen JJ, Shen Q, Hägg S, Tornvall P, Buil A, Werge T, Hjerling-Leffler J, Als TD, Børglum AD, Lewis CM, McIntosh AM, Valdimarsdóttir UA, Andreassen OA, Sullivan PF, Lu Y, Fang F.

Nat Cardiovasc Res. 2024 Jun;3(6):754-769. doi: 10.1038/s44161-024-00488-y. Epub 2024 Jun 17.

PMID: 39215135

 

Extensive co-regulation of neighbouring genes complicates the use of eQTLs in target gene prioritisation. 

Tambets R, Kolde A, Kolberg P, Love MI, Alasoo K.

HGG Adv. 2024 Aug 28:100348. doi: 10.1016/j.xhgg.2024.100348. Online ahead of print.

PMID: 39210598

 

Development and Characterization of Syngeneic Orthotopic Transplant Models of Obesity-Responsive Triple-Negative Breast Cancer in C57BL/6J Mice. 

Carson MS, Rädler PD, Albright J, VerHague M, Rezeli ET, Roth D, French JE, Perou CM, Hursting SD, Coleman MF.

Cancers (Basel). 2024 Aug 9;16(16):2803. doi: 10.3390/cancers16162803.

PMID: 39199576 Free PMC article.

 

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. 

Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC.

Ann Clin Transl Neurol. 2024 Aug 30. doi: 10.1002/acn3.52127. Online ahead of print.

PMID: 39215466

 

Leaf age structures phyllosphere microbial communities in the field and greenhouse. 

Geyer JK, Grunberg RL, Wang J, Mitchell CE.

Front Microbiol. 2024 Aug 14;15:1429166. doi: 10.3389/fmicb.2024.1429166. eCollection 2024.

PMID: 39206365 Free PMC article.

 

Proximity interactome of lymphatic VE-cadherin reveals mechanisms of junctional remodeling and reelin secretion. 

Serafin DS, Harris NR, Bálint L, Douglas ES, Caron KM.

Nat Commun. 2024 Sep 4;15(1):7734. doi: 10.1038/s41467-024-51918-1.

PMID: 39232006 Free PMC article.

 

Association of biomarkers of endothelial function, coagulation activation and kidney injury with persistent albuminuria in sickle cell anaemia. 

Elsherif L, Tang Y, Patillo KL, Wichlan D, Ogu UO, Landes K, McCune P, Scott LC, Gulledge W, Woodland WH, Nelson M, Loehr LR, Cronin RM, Desai PC, Zhou LY, Pollock DM, Zou F, Cai J, Derebail VK, Ataga KI.

Br J Haematol. 2024 Sep 3. doi: 10.1111/bjh.19743. Online ahead of print.

PMID: 39228027

 

Estimating trans-ancestry genetic correlation with unbalanced data resources. 

Zhao B, Yang X, Zhu H.

J Am Stat Assoc. 2024;119(546):839-850. doi: 10.1080/01621459.2024.2344703. Epub 2024 May 21.

PMID: 39219674

 

Early hippocampal high-amplitude rhythmic spikes predict post-traumatic epilepsy in mice. 

Shannon T, Levine N, Dirickson R, Shen Y, Cotter C, Rajjoub N, Fitzgerald J, Pardo-Manuel de Villena F, Kokiko-Cochran O, Gu B.

Front Neurosci. 2024 Aug 29;18:1422449. doi: 10.3389/fnins.2024.1422449. eCollection 2024.

PMID: 39268032 Free PMC article.

 

Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application. 

Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, Rotter JI, Rich SS, Abecasis G, Carson AP, Vasan RS, Bis JC, Psaty BM, Boerwinkle E, Fitzpatrick AL, Satizabal CL, Arking DE, Ding J, Levy D, Liu C; TOPMed mtDNA working group.

Mitochondrion. 2024 Sep 6:101954. doi: 10.1016/j.mito.2024.101954. Online ahead of print.

PMID: 39245194

 

Implementation of a dyadic nomenclature for monogenic diseases. 

Thaxton C, Biesecker LG, DiStefano M, Haendel M, Hamosh A, Owens E, Plon SE, Rehm HL, Berg JS.

Am J Hum Genet. 2024 Sep 5;111(9):1810-1818. doi: 10.1016/j.ajhg.2024.07.019.

PMID: 39241757 Review.

 

Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors. 

Rosenberger LH, Thomas SM, Hieken TJ, Gallagher KK, Spanheimer PM, Neuman HB, Weiss AC, King TA, Wong J, Tong BS, Nash AL, Frazier MP, Menendez CS, Hwang ES, Jakub JW, Plichta JK.

Breast Cancer Res Treat. 2024 Sep 13. doi: 10.1007/s10549-024-07488-3. Online ahead of print.

PMID: 39269552

 

Cardiac lymphatics undergo distinct remodeling during hypertrophic and non-hypertrophic pregnancy. 

Kistner BM, Tian Y, Douglas ES, Caron KM.

Am J Physiol Heart Circ Physiol. 2024 Sep 13. doi: 10.1152/ajpheart.00459.2024. Online ahead of print.

PMID: 39269453

 

Developing a scoring system for gene curation prioritization in lysosomal diseases. 

Vernet Machado Bressan Wilke M, Goldstein J, Groopman E, Mohan S, Waddell A, Fernandez R, Chen H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Yuzyuk T, Craigen WJ, Pinto E Vairo F.

Mol Genet Metab. 2024 Sep 5;143(1-2):108572. doi: 10.1016/j.ymgme.2024.108572. Online ahead of print.

PMID: 39265286

 

Genetic modifiers of body mass index in individuals with cystic fibrosis. 

Ling H, Raraigh KS, Pugh EW, Aksit MA, Zhang P, Pace RG, Faino AV, Bamshad MJ, Gibson RL, O’Neal W, Knowles MR, Blackman SM, Cutting GR; CF Genome Project.

Am J Hum Genet. 2024 Sep 5:S0002-9297(24)00290-8. doi: 10.1016/j.ajhg.2024.08.004. Online ahead of print.

PMID: 39260370

 

The researcher’s guide to selecting biomarkers in mental health studies. 

Verhoeven JE, Wolkowitz OM, Barr Satz I, Conklin Q, Lamers F, Lavebratt C, Lin J, Lindqvist D, Mayer SE, Melas PA, Milaneschi Y, Picard M, Rampersaud R, Rasgon N, Ridout K, Söderberg Veibäck G, Trumpff C, Tyrka AR, Watson K, Wu GWY, Yang R, Zannas AS, Han LKM, Månsson KNT.

Bioessays. 2024 Sep 11:e2300246. doi: 10.1002/bies.202300246. Online ahead of print.

PMID: 39258367 Review.

 

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II. 

Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.

J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print.

PMID: 39252529

 

Identifying Patient Subpopulations with Significant Race-Sex Differences in Emergency Department Disposition Decisions. 

Lin P, Argon NT, Cheng Q, Evans CS, Linthicum B, Liu Y, Mehrotra A, Murphy L, Patel MD, Ziya S.

Health Serv Insights. 2024 Sep 5;17:11786329241277724. doi: 10.1177/11786329241277724. eCollection 2024.

PMID: 39247491 Free PMC article.