Publications

2025

6 Ichthyosiform Dermatoses ☆ ☆ This article is a revision of the previous edition article by Howard P. Baden and John J. DiGiovanna, © 2013, Elsevier Ltd.Echeandia-Francis C, Baden H, DiGiovanna J, Choate K. 6 Ichthyosiform Dermatoses ☆ ☆ This article is a revision of the previous edition article by Howard P. Baden and John J. DiGiovanna, © 2013, Elsevier Ltd. 2025, 209-243. DOI: 10.1016/b978-0-12-812531-1.00003-8.

2024

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegalyAllington G, Mehta N, Dennis E, Mekbib K, Reeves B, Kiziltug E, Chen S, Zhao S, Duy P, Saleh M, Ang L, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton R, Alper S, McGee S, Jin S, Kahle K. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain 2024, awae395. PMID: 39680505, DOI: 10.1093/brain/awae395.
X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomesHasenbein T, Hoelzl S, Smith Z, Gerhardinger C, Gonner M, Aguilar-Pimentel A, Amarie O, Becker L, Calzada-Wack J, Dragano N, da Silva-Buttkus P, Garrett L, Hölter S, Kraiger M, Östereicher M, Rathkolb B, Sanz-Moreno A, Spielmann N, Wurst W, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Meissner A, Engelhardt S, Rinn J, Andergassen D. X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomes. Nature Communications 2024, 15: 10631. PMID: 39638999, PMCID: PMC11621363, DOI: 10.1038/s41467-024-54673-5.
Dysregulation in keratinocytes drives systemic lupus erythematosus onsetTian J, Shi L, Zhang D, Yao X, Zhao M, Kumari S, Lu J, Yu D, Lu Q. Dysregulation in keratinocytes drives systemic lupus erythematosus onset. Cellular & Molecular Immunology 2024, 1-14. PMID: 39627610, DOI: 10.1038/s41423-024-01240-z.
Paralog Co-Targeting Identifies Selective Genetic Redundancies across Cancer Types.Gauthier-Coles G, Sheltzer J. Paralog Co-Targeting Identifies Selective Genetic Redundancies across Cancer Types. Cancer Discovery 2024, 14: 2312-2314. PMID: 39618283, DOI: 10.1158/2159-8290.cd-24-1349.
Posttraumatic Stress Disorder, Obesity, and Accelerated Epigenetic Aging Among US Military VeteransFischer I, Na P, Nagamatsu S, Jeste D, Cabrera-Mendoza B, Montalvo-Ortiz J, Krystal J, Polimanti R, Gelernter J, Pietrzak R. Posttraumatic Stress Disorder, Obesity, and Accelerated Epigenetic Aging Among US Military Veterans. JAMA Psychiatry 2024, 81: 1276-1277. PMID: 39476130, PMCID: PMC11581715, DOI: 10.1001/jamapsychiatry.2024.3403.
Circulating tumor-reactive KIR+CD8+ T cells suppress anti-tumor immunity in patients with melanomaLu B, Lucca L, Lewis W, Wang J, Nogueira C, Heer S, Rayon-Estrada V, Axisa P, Reeves S, Buitrago-Pocasangre N, Pham G, Kojima M, Wei W, Aizenbud L, Bacchiocchi A, Zhang L, Walewski J, Chiang V, Olino K, Clune J, Halaban R, Kluger Y, Coyle A, Kisielow J, Obermair F, Kluger H, Hafler D. Circulating tumor-reactive KIR+CD8+ T cells suppress anti-tumor immunity in patients with melanoma. Nature Immunology 2024, 1-10. PMID: 39609626, DOI: 10.1038/s41590-024-02023-4.
Hypoxia is linked to acquired resistance to immune checkpoint inhibitors in lung cancerRobles-Oteíza C, Hastings K, Choi J, Sirois I, Ravi A, Expósito F, de Miguel F, Knight J, López-Giráldez F, Choi H, Socci N, Merghoub T, Awad M, Getz G, Gainor J, Hellmann M, Caron É, Kaech S, Politi K. Hypoxia is linked to acquired resistance to immune checkpoint inhibitors in lung cancer. Journal Of Experimental Medicine 2024, 222: e20231106. PMID: 39585348, PMCID: PMC11602551, DOI: 10.1084/jem.20231106.
cis- and trans-regulatory contributions to a hierarchy of factors influencing gene expression variationKalra S, Lanno S, Sanchez G, Coolon J. cis- and trans-regulatory contributions to a hierarchy of factors influencing gene expression variation. Communications Biology 2024, 7: 1563. PMID: 39587248, PMCID: PMC11589579, DOI: 10.1038/s42003-024-07255-6.
The maternal-to-zygotic transition: reprogramming of the cytoplasm and nucleusKojima M, Hoppe C, Giraldez A. The maternal-to-zygotic transition: reprogramming of the cytoplasm and nucleus. Nature Reviews Genetics 2024, 1-23. PMID: 39587307, DOI: 10.1038/s41576-024-00792-0.
Improved Prediction of Ligand–Protein Binding Affinities by Meta-modelingLee H, Emani P, Gerstein M. Improved Prediction of Ligand–Protein Binding Affinities by Meta-modeling. Journal Of Chemical Information And Modeling 2024, 64: 8684-8704. PMID: 39576762, DOI: 10.1021/acs.jcim.4c01116.
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasmsHong Y, Pasca S, Shi W, Puiu D, Lake N, Lek M, Ru M, Grove M, Prizment A, Joshu C, Platz E, Guallar E, Arking D, Gondek L. Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms. Nature Communications 2024, 15: 10133. PMID: 39578475, PMCID: PMC11584845, DOI: 10.1038/s41467-024-54443-3.
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from MaliBamba S, Sidibé L, Diallo S, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé M, Diarra S, Maiga A, Traoré O, Diallo S, Mefoung S, Touré A, Koné A, Jeffries L, Guinto C, Mis E, Fischbeck K, Khokha M, Lakhani S, Landouré G. Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers In Genetics 2024, 15: 1412442. PMID: 39624497, PMCID: PMC11609193, DOI: 10.3389/fgene.2024.1412442.
Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesisLi Y, Xu W, Cheng Y, Djenoune L, Zhuang C, Cox A, Britto C, Yuan S, Wang S, Sun Z. Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2402818121. PMID: 39541357, PMCID: PMC11588059, DOI: 10.1073/pnas.2402818121.
Abstract I001: Long noncoding RNAs at the intersection of cancer pathwaysDimitrova N. Abstract I001: Long noncoding RNAs at the intersection of cancer pathways. Molecular Cancer Therapeutics 2024, 23: i001-i001. DOI: 10.1158/1538-8514.rnadrivers24-i001.
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic predictionBraun A, Shekhar S, Levey D, Straub P, Kraft J, Panagiotaropoulou G, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas A, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir A, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein M, Fontanillas P, Kaprio J, Gelernter J, Davis L, Paschou P, Tannemaat M, Verschuuren J, Kuhlenbäumer G, Gregersen P, Huijbers M, Stascheit F, Meisel A, Ripke S. Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. Nature Communications 2024, 15: 9839. PMID: 39537604, PMCID: PMC11560923, DOI: 10.1038/s41467-024-53595-6.
Abstract 4120623: Sphingosine Kinase 1 Is Integral For Elastin Deficiency-induced Arterial HypermuscularizationSaito J, Dave J, Kabir I, xGallardo-Vara X, Hla T, Greif D. Abstract 4120623: Sphingosine Kinase 1 Is Integral For Elastin Deficiency-induced Arterial Hypermuscularization. Circulation 2024, 150: a4120623-a4120623. DOI: 10.1161/circ.150.suppl_1.4120623.
CYP2C gene polymorphisms in North African populationsMessaoudi M, Pakstis A, Boussetta S, Ben Ammar Elgaaied A, Kidd K, Cherni L. CYP2C gene polymorphisms in North African populations. Molecular Biology Reports 2024, 51: 1145. PMID: 39532754, DOI: 10.1007/s11033-024-10093-8.
Abstract 4143732: Mitochondrial DNA heteroplasmy and incident cardiovascular diseaseHong Y, Shi W, Puiu D, Lake N, Guallar E, Arking D. Abstract 4143732: Mitochondrial DNA heteroplasmy and incident cardiovascular disease. Circulation 2024, 150: a4143732-a4143732. DOI: 10.1161/circ.150.suppl_1.4143732.
Efficient and selective kidney targeting by chemically modified carbohydrate conjugatesKumar V, Wahane A, Tham M, Somlo S, Gupta A, Bahal R. Efficient and selective kidney targeting by chemically modified carbohydrate conjugates. Molecular Therapy 2024, 32: 4383-4400. PMID: 39532098, DOI: 10.1016/j.ymthe.2024.10.020.
Navigating human embryogenesis through tailored model selectionSozen B. Navigating human embryogenesis through tailored model selection. Nature Cell Biology 2024, 26: 1819-1821. PMID: 39528699, DOI: 10.1038/s41556-024-01525-5.
EPCO-35. GENOMIC CHARACTERIZATION OF GROWTH HORMONE SECRETING PITUITARY ADENOMASAlanya H, Yalcin K, Hilton B, Gultekin B, Mishra-Gorur K, McGuone D, Gunel M, Omay S, Erson-Omay Z. EPCO-35. GENOMIC CHARACTERIZATION OF GROWTH HORMONE SECRETING PITUITARY ADENOMAS. Neuro-Oncology 2024, 26: viii9-viii9. PMCID: PMC11553213, DOI: 10.1093/neuonc/noae165.0034.
Dynamics of clustering rates in the rhode Island HIV-1 epidemic.Novitsky V, Steingrimsson J, Guang A, Dunn C, Howison M, Gillani F, Hague J, Fulton J, Bertrand T, Bhattarai L, MacAskill M, Bandy U, Hogan J, Kantor R. Dynamics of clustering rates in the rhode Island HIV-1 epidemic. AIDS 2024 PMID: 39527774, DOI: 10.1097/qad.0000000000004062.
Adamts1 and Cyst Expansion in Polycystic Kidney Disease.Kakade V, Akman Z, Motrapu M, Cassini M, Xu L, Moeckel G, Somlo S, Cantley L. Adamts1 and Cyst Expansion in Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2024 PMID: 39514301, DOI: 10.1681/asn.0000000557.
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn VariantsCelebiler H, Barak T, K. D, Kaya I, Erbilgin S, Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis M, Bilguvar K, Akhun N, Kilincaslan A, Caglayan A, Erson-Omay E, Gunel M, Ercan-Sencicek A. Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants. Molecular Syndromology 2024, 1-12. DOI: 10.1159/000542367.
Evolutionary innovations in germline biology of placental mammals identified by transcriptomics of first-wave spermatogenesis in opossumMarshall K, Stadtmauer D, Maziarz J, Wagner G, Lesch B. Evolutionary innovations in germline biology of placental mammals identified by transcriptomics of first-wave spermatogenesis in opossum. Developmental Cell 2024 PMID: 39536760, DOI: 10.1016/j.devcel.2024.10.013.
207 Spatial transcriptomic profiling non-small cell lung cancer reveals potential drivers of CTL exclusion and dysfunction, and identifies novel predictive biomarkers for checkpoint blockade therapyCho C, Lopez-Giraldez F, Huang B, He J, Woodard G, Badri T, Kidacki M, Vesely M, Wang G, Ofori-Ntiamoah G, Ng E, Chen L. 207 Spatial transcriptomic profiling non-small cell lung cancer reveals potential drivers of CTL exclusion and dysfunction, and identifies novel predictive biomarkers for checkpoint blockade therapy. 2024, a236-a236. DOI: 10.1136/jitc-2024-sitc2024.0207.
65 High-fidelity enhanced AsCas12a knock-in mice for efficient multiplexed gene editing, disease modeling and orthogonal immunogeneticsTang K, Zhou X, Fang S, Vandenbulcke E, Du A, Shen J, Cao H, Zhou J, Chen K, Xin S, Zhou L, Lin S, Majety M, Lin X, Lam S, Chow R, Bai S, Nottoli T, Booth C, Liu C, Dong M, Chen S. 65 High-fidelity enhanced AsCas12a knock-in mice for efficient multiplexed gene editing, disease modeling and orthogonal immunogenetics. 2024, a72-a72. DOI: 10.1136/jitc-2024-sitc2024.0065.
Cutaneous Squamous Cell Carcinoma in Transketolase DeficiencyLoranger N, Vishnevetsky A, Spencer-Manzon M, Karn E, Chung W, Roche A, Ruiz E. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngology - Head & Neck Surgery 2024, 150: 1038-1039. PMID: 39325476, DOI: 10.1001/jamaoto.2024.2489.
Single-cell transcriptomic and proteomic analysis of Parkinson’s disease brainsZhu B, Park J, Coffey S, Russo A, Hsu I, Wang J, Su C, Chang R, Lam T, Gopal P, Ginsberg S, Zhao H, Hafler D, Chandra S, Zhang L. Single-cell transcriptomic and proteomic analysis of Parkinson’s disease brains. Science Translational Medicine 2024, 16: eabo1997. PMID: 39475571, DOI: 10.1126/scitranslmed.abo1997.
Image-based 3D genomics through chromatin tracingYang T, Wang S. Image-based 3D genomics through chromatin tracing. Nature Reviews Methods Primers 2024, 4: 76. DOI: 10.1038/s43586-024-00354-y.
What Are the Genetic Building Blocks of Alcohol-Related Behaviors?Gelernter J, Deak J. What Are the Genetic Building Blocks of Alcohol-Related Behaviors? American Journal Of Psychiatry 2024, 181: 952-954. PMID: 39482951, DOI: 10.1176/appi.ajp.20240885.
Machine-guided design of cell-type-targeting cis-regulatory elementsGosai S, Castro R, Fuentes N, Butts J, Mouri K, Alasoadura M, Kales S, Nguyen T, Noche R, Rao A, Joy M, Sabeti P, Reilly S, Tewhey R. Machine-guided design of cell-type-targeting cis-regulatory elements. Nature 2024, 634: 1211-1220. PMID: 39443793, PMCID: PMC11525185, DOI: 10.1038/s41586-024-08070-z.
Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships.Kudron M, Gevirtzman L, Victorsen A, Lear B, Gao J, Xu J, Samanta S, Frink E, Tran-Pearson A, Huynh C, Vafeados D, Hammonds A, Fisher W, Wall M, Wesseling G, Hernandez V, Lin Z, Kasparian M, White K, Allada R, Gerstein M, Hillier L, Celniker S, Reinke V, Waterston R. Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships. Genome Research 2024 PMID: 39438113, DOI: 10.1101/gr.279037.124.
Rab6a enables BICD2/dynein-mediated trafficking of human papillomavirus from the trans-Golgi network during virus entryChoi J, Speckhart K, Tsai B, DiMaio D. Rab6a enables BICD2/dynein-mediated trafficking of human papillomavirus from the trans-Golgi network during virus entry. MBio 2024, 15: e02811-24. PMID: 39431827, PMCID: PMC11559006, DOI: 10.1128/mbio.02811-24.
Abstract B008: Rescuing neoantigen-specific CD8+ T-cell immunity from tumor- microenvironment-mediated immunosuppression in pancreatic cancerJacox J, Foster G, Vattem C, Shah D, Sogunro A, Joshi N, Muzumdar M. Abstract B008: Rescuing neoantigen-specific CD8+ T-cell immunity from tumor- microenvironment-mediated immunosuppression in pancreatic cancer. Cancer Immunology Research 2024, 12: b008-b008. DOI: 10.1158/2326-6074.tumimm24-b008.
Genes in context: path to more precise risk prediction in psychiatry?Na P, Pietrzak R, Gelernter J. Genes in context: path to more precise risk prediction in psychiatry? The British Journal Of Psychiatry 2024, 1-2. PMID: 39422146, DOI: 10.1192/bjp.2024.151.
Selective utilization of glucose metabolism guides mammalian gastrulationCao D, Bergmann J, Zhong L, Hemalatha A, Dingare C, Jensen T, Cox A, Greco V, Steventon B, Sozen B. Selective utilization of glucose metabolism guides mammalian gastrulation. Nature 2024, 634: 919-928. PMID: 39415005, PMCID: PMC11499262, DOI: 10.1038/s41586-024-08044-1.
Quantifying constraint in the human mitochondrial genomeLake N, Ma K, Liu W, Battle S, Laricchia K, Tiao G, Puiu D, Ng K, Cohen J, Compton A, Cowie S, Christodoulou J, Thorburn D, Zhao H, Arking D, Sunyaev S, Lek M. Quantifying constraint in the human mitochondrial genome. Nature 2024, 635: 390-397. PMID: 39415008, DOI: 10.1038/s41586-024-08048-x.
Methylarginine targeting chimeras for lysosomal degradation of intracellular proteinsSeabrook L, Franco C, Loy C, Osman J, Fredlender C, Zimak J, Campos M, Nguyen S, Watson R, Levine S, Khalil M, Sumigray K, Trader D, Albrecht L. Methylarginine targeting chimeras for lysosomal degradation of intracellular proteins. Nature Chemical Biology 2024, 20: 1566-1576. PMID: 39414979, DOI: 10.1038/s41589-024-01741-y.
A brief history of metabolic gradient theorySozen B. A brief history of metabolic gradient theory. Nature Reviews Genetics 2024, 1-1. PMID: 39414955, DOI: 10.1038/s41576-024-00790-2.
Concerns about genetic risk testing for opioid use disorderHatoum A, Davis C, Kember R, Johnstone M, Oslin D, Zinkstok J, Burmeister M, Ethics P, Agrawal A, Kranzler H, Edenberg H, Gelernter J, Docherty A, Lencz T. Concerns about genetic risk testing for opioid use disorder. The Lancet Psychiatry 2024 PMID: 39413801, DOI: 10.1016/s2215-0366(24)00310-9.
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processesMaury E, Jones A, Seplyarskiy V, Nguyen T, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Network B, Park P, Akbarian S, Brennand K, Reilly S, Lee E, Sunyaev S, Walsh C, Chess A. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science 2024, 386: 217-224. PMID: 39388546, PMCID: PMC11490355, DOI: 10.1126/science.adq1456.
Tumor-specific antigen delivery for T-cell therapy via a pH-sensitive peptide conjugate.Yurkevicz A, Liu Y, Katz S, Glazer P. Tumor-specific antigen delivery for T-cell therapy via a pH-sensitive peptide conjugate. Molecular Cancer Therapeutics 2024, of1-of13. PMID: 39382073, DOI: 10.1158/1535-7163.mct-23-0809.
CUTS: A Deep Learning and Topological Framework for Multigranular Unsupervised Medical Image SegmentationLiu C, Amodio M, Shen L, Gao F, Avesta A, Aneja S, Wang J, Del Priore L, Krishnaswamy S. CUTS: A Deep Learning and Topological Framework for Multigranular Unsupervised Medical Image Segmentation. Lecture Notes In Computer Science 2024, 15008: 155-165. DOI: 10.1007/978-3-031-72111-3_15.
Physalia gonodendra are not yet sexually mature when releasedOguchi K, Yamamoto G, Kohtsuka H, Dunn C. Physalia gonodendra are not yet sexually mature when released. Scientific Reports 2024, 14: 23011. PMID: 39362967, PMCID: PMC11450099, DOI: 10.1038/s41598-024-73611-5.
Next-generation cell-penetrating antibodies for tumor targeting and RAD51 inhibitionRackear M, Quijano E, Ianniello Z, Colón-Ríos D, Krysztofiak A, Abdullah R, Liu Y, Rogers F, Ludwig D, Dwivedi R, Bleichert F, Glazer P. Next-generation cell-penetrating antibodies for tumor targeting and RAD51 inhibition. Oncotarget 2024, 15: 699-713. PMID: 39352803, PMCID: PMC11444335, DOI: 10.18632/oncotarget.28651.
F91. MAPPING THE EFFECTS OF OPIOID USE DISORDER GENETIC ASSOCIATED VARIANTS IN BRAIN PATHWAYS AT A SINGLE CELL LEVELRivera-Hernández M, Martínez-Magaña J, Brennand K, Montalvo-Ortiz J. F91. MAPPING THE EFFECTS OF OPIOID USE DISORDER GENETIC ASSOCIATED VARIANTS IN BRAIN PATHWAYS AT A SINGLE CELL LEVEL. European Neuropsychopharmacology 2024, 87: 254. DOI: 10.1016/j.euroneuro.2024.08.502.
T4. RELATIONSHIP OF GENETICALLY-INDEXED PHYSICAL ACTIVITY WITH MENTAL DISORDERSGalimberti M, Gupta P, Deak J, Dao C, Nitin R, Zhou H, Harrington K, Na P, Topiwala A, Davis L, Gaziano M, Levey D, Stein M, Gelernter J. T4. RELATIONSHIP OF GENETICALLY-INDEXED PHYSICAL ACTIVITY WITH MENTAL DISORDERS. European Neuropsychopharmacology 2024, 87: 157-158. DOI: 10.1016/j.euroneuro.2024.08.314.
F96. ALCOHOL USE AND DEMENTIA IN DIVERSE POPULATIONSTopiwala A, Levey D, Zhou H, Deak J, Adhikari K, Ebmeier K, Bell S, Burgess S, Nichols T, Gaziano M, Stein M, Gelernter J. F96. ALCOHOL USE AND DEMENTIA IN DIVERSE POPULATIONS. European Neuropsychopharmacology 2024, 87: 256-257. DOI: 10.1016/j.euroneuro.2024.08.507.
42. STRESS EXPOSURE DYNAMICALLY REGULATES EQTL ACTIVITY IN THE POST-MORTEM BRAIN AND IN HIPSC-DERIVED NEURONSSeah C, Signer R, Young H, Hicks E, Rusielewicz T, Bader H, Xu C, Breen M, Paull D, Yehuda R, Girgenti M, Brennand K, Huckins L. 42. STRESS EXPOSURE DYNAMICALLY REGULATES EQTL ACTIVITY IN THE POST-MORTEM BRAIN AND IN HIPSC-DERIVED NEURONS. European Neuropsychopharmacology 2024, 87: 71-72. DOI: 10.1016/j.euroneuro.2024.08.156.
ENDOMETRIAL AND IMPLANTATION MODELING UTILIZING A HIGH-THROUGHPUT 3D SPHEROID GENERATION SYSTEMVélez-Avilés A, Abel A, Bergmann J, Cevik E, Zhong L, Taylor H, Sozen B. ENDOMETRIAL AND IMPLANTATION MODELING UTILIZING A HIGH-THROUGHPUT 3D SPHEROID GENERATION SYSTEM. Fertility And Sterility 2024, 122: e365. DOI: 10.1016/j.fertnstert.2024.08.130.
EXPLORING THE IMMUNOGENETIC BASIS OF POST-TRAUMATIC STRESS DISORDERBraun A, Maihofer A, Katrinli S, Panagiotaropoulou G, Levey D, Ripke S, Gelernter J, Nievergelt C, Group P. EXPLORING THE IMMUNOGENETIC BASIS OF POST-TRAUMATIC STRESS DISORDER. European Neuropsychopharmacology 2024, 87: 4-5. DOI: 10.1016/j.euroneuro.2024.08.017.
POST-GWAS FOR PTSD: FROM RISK LOCI TO BIOLOGICAL MEANINGNievergelt C, Ongeri L, Gelernter J. POST-GWAS FOR PTSD: FROM RISK LOCI TO BIOLOGICAL MEANING. European Neuropsychopharmacology 2024, 87: 2-3. DOI: 10.1016/j.euroneuro.2024.08.013.
Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKDRoy K, Gulati A, Gu J, Shaw M, Sun Z, Besse W, Watnick T, Somlo S. Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024xfh9af06. DOI: 10.1681/asn.2024xfh9af06.
Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC CohortPatel P, Besse W, Gulati A, Shaw M, Blumenfeld J, Pei Y, Gitomer B, Perrone R, Caliskan Y, Park H, Yu A, Dahl N, Rahbari-Oskoui F, Somlo S, Watnick T. Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024pma0ae6c. DOI: 10.1681/asn.2024pma0ae6c.
Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD)Wei Z, Tian X, Rehman M, Dong K, Cai Y, Cordido A, Somlo S. Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD). Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024x2zerq4t. DOI: 10.1681/asn.2024x2zerq4t.
Functional Studies of Polycystin-1 Using a Novel Pkd1-HaloTag MouseCordido A, Dong K, Cai Y, Tian X, Wei Z, Rehman M, Somlo S. Functional Studies of Polycystin-1 Using a Novel Pkd1-HaloTag Mouse. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024kjqymtyt. DOI: 10.1681/asn.2024kjqymtyt.
Chemical Modulation of the Ire1α-Xbp1 Pathway Reduces Cyst Size in ADPKD Mouse and Human Three-Dimensional SpheroidsHasan F, Bhardwaj R, Rehman M, Cai Y, Dong K, Cordido A, Pioppini C, Yilmaz D, Tian X, Somlo S, Krappitz M, Fedeles S. Chemical Modulation of the Ire1α-Xbp1 Pathway Reduces Cyst Size in ADPKD Mouse and Human Three-Dimensional Spheroids. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024x8qpvhm3. DOI: 10.1681/asn.2024x8qpvhm3.
Spatially exploring RNA biology in archival formalin-fixed paraffin-embedded tissuesBai Z, Zhang D, Gao Y, Tao B, Zhang D, Bao S, Enninful A, Wang Y, Li H, Su G, Tian X, Zhang N, Xiao Y, Liu Y, Gerstein M, Li M, Xing Y, Lu J, Xu M, Fan R. Spatially exploring RNA biology in archival formalin-fixed paraffin-embedded tissues. Cell 2024, 187: 6760-6779.e24. PMID: 39353436, PMCID: PMC11568911, DOI: 10.1016/j.cell.2024.09.001.
Complex trauma sequelae: Mycobacterium goodii and Priestia endophytica Hardware infection in a patient with Ehlers-Danlos syndromeCovington A, Cerqueira F, Pavia J, Reynoso D, Ren P. Complex trauma sequelae: Mycobacterium goodii and Priestia endophytica Hardware infection in a patient with Ehlers-Danlos syndrome. BMC Infectious Diseases 2024, 24: 1064. PMID: 39333951, PMCID: PMC11438204, DOI: 10.1186/s12879-024-09970-1.
Prospective Evaluation of Routine Statewide Integration of Molecular Epidemiology and Contact Tracing to Disrupt Human Immunodeficiency Virus TransmissionKantor R, Steingrimsson J, Fulton J, Novitsky V, Howison M, Gillani F, Bhattarai L, MacAskill M, Hague J, Guang A, Khanna A, Dunn C, Hogan J, Bertrand T, Bandy U. Prospective Evaluation of Routine Statewide Integration of Molecular Epidemiology and Contact Tracing to Disrupt Human Immunodeficiency Virus Transmission. Open Forum Infectious Diseases 2024, 11: ofae599. PMID: 39474444, PMCID: PMC11521326, DOI: 10.1093/ofid/ofae599.
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findingsCissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.
Saturation mutagenesis-reinforced functional assays for disease-related genesMa K, Huang S, Ng K, Lake N, Joseph S, Xu J, Lek A, Ge L, Woodman K, Koczwara K, Cohen J, Ho V, O'Connor C, Brindley M, Campbell K, Lek M. Saturation mutagenesis-reinforced functional assays for disease-related genes. Cell 2024, 187: 6707-6724.e22. PMID: 39326416, PMCID: PMC11568926, DOI: 10.1016/j.cell.2024.08.047.
Single-cell CAR T atlas reveals type 2 function in 8-year leukaemia remissionBai Z, Feng B, McClory S, de Oliveira B, Diorio C, Gregoire C, Tao B, Yang L, Zhao Z, Peng L, Sferruzza G, Zhou L, Zhou X, Kerr J, Baysoy A, Su G, Yang M, Camara P, Chen S, Tang L, June C, Melenhorst J, Grupp S, Fan R. Single-cell CAR T atlas reveals type 2 function in 8-year leukaemia remission. Nature 2024, 634: 702-711. PMID: 39322664, PMCID: PMC11485231, DOI: 10.1038/s41586-024-07762-w.
Pig-to-human kidney xenotransplants using genetically modified minipigsWang Y, Chen G, Pan D, Guo H, Jiang H, Wang J, Feng H, He S, Du J, Zhang M, Li T, Wang Y, Yu H, Gan H, Wen Q, Song Z, Li D, Yu Y, Wang H, Li B, You Y, Zhou S, Wang M, Liu L, Xu L, Yang M, Pei H, Zhang K, Chen Z. Pig-to-human kidney xenotransplants using genetically modified minipigs. Cell Reports Medicine 2024, 5: 101744. PMID: 39317190, PMCID: PMC11513830, DOI: 10.1016/j.xcrm.2024.101744.
IL-1β Induces Human Endothelial Surface Expression of IL-15 by Relieving let-7c-3p Suppression of Protein Translation.Mullan C, Summer L, Lopez-Giraldez F, Tobiasova Z, Manes T, Yasothan S, Song G, Jane-Wit D, Saltzman W, Pober J. IL-1β Induces Human Endothelial Surface Expression of IL-15 by Relieving let-7c-3p Suppression of Protein Translation. The Journal Of Immunology 2024, 213: 1338-1348. PMID: 39302113, PMCID: PMC11493510, DOI: 10.4049/jimmunol.2400331.
Evolutionary Innovations in Conserved Regulatory Elements Associate With Developmental Genes in MammalsUebbing S, Kocher A, Baumgartner M, Ji Y, Bai S, Xing X, Nottoli T, Noonan J. Evolutionary Innovations in Conserved Regulatory Elements Associate With Developmental Genes in Mammals. Molecular Biology And Evolution 2024, 41: msae199. PMID: 39302728, PMCID: PMC11465374, DOI: 10.1093/molbev/msae199.
An elevated rate of whole-genome duplications in cancers from Black patientsBrown L, Hagenson R, Koklič T, Urbančič I, Qiao L, Strancar J, Sheltzer J. An elevated rate of whole-genome duplications in cancers from Black patients. Nature Communications 2024, 15: 8218. PMID: 39300140, PMCID: PMC11413164, DOI: 10.1038/s41467-024-52554-5.
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.Rius R, Compton A, Baker N, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion M, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva M, Delatycki M, Edwards S, Ellaway C, Fahey M, Finlay K, Fletcher J, Frajman L, Frazier A, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock D, Howting D, Jackson M, Kava M, Kemp M, King-Smith S, Lake N, Lamont P, Lee J, Long J, MacShane M, Madelli E, Martin E, Marum J, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips L, Quinn M, Ryan M, Schenscher S, Simons C, Smith N, Stroud D, Tchan M, Tom M, Wallis M, Ware T, Welch A, Wools C, Wu Y, Christodoulou J, Thorburn D. The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses. Genetics In Medicine 2024, 101271. PMID: 39305161, DOI: 10.1016/j.gim.2024.101271.
Protocol for detecting glycoRNAs using metabolic labeling and northwestern blotLi L, Zhang N, Pantoja C, Wang Y, Lu J. Protocol for detecting glycoRNAs using metabolic labeling and northwestern blot. STAR Protocols 2024, 5: 103321. PMID: 39298321, PMCID: PMC11426122, DOI: 10.1016/j.xpro.2024.103321.
Keep It Moving: Physical Activity in the Prevention of Obesity-Driven Pancreatic Cancer.Sogunro A, Muzumdar M. Keep It Moving: Physical Activity in the Prevention of Obesity-Driven Pancreatic Cancer. Cancer Research 2024, 84: 2935-2937. PMID: 39279380, DOI: 10.1158/0008-5472.can-24-1474.
Abstract PR-05: Endocrine beta-cell stress promotes pancreatic ductal adenocarcinoma through endocrine-exocrine cell crosstalkGarcia C, Venkat A, McQuaid D, Agabiti S, Tong A, Cardone R, Kibbey R, Krishnaswamy S, Muzumdar M. Abstract PR-05: Endocrine beta-cell stress promotes pancreatic ductal adenocarcinoma through endocrine-exocrine cell crosstalk. Cancer Research 2024, 84: pr-05-pr-05. DOI: 10.1158/1538-7445.pancreatic24-pr-05.
Abstract PR-06: Dietary fats dictate pancreatic cancer fate via phospholipid saturationRuiz C, Ge X, McDonnell R, McQuaid D, Kaplan J, Li G, Rudolph M, Gorelick F, Wysolmerski J, Canals D, Haley J, Rodeheffer M, Muzumdar M. Abstract PR-06: Dietary fats dictate pancreatic cancer fate via phospholipid saturation. Cancer Research 2024, 84: pr-06-pr-06. DOI: 10.1158/1538-7445.pancreatic24-pr-06.
Abstract B084: Comparative functional analysis of TP53 alleles in pancreatic ductal adenocarcinoma in vivoAgabiti S, Tang A, Nottoli T, Muzumdar M. Abstract B084: Comparative functional analysis of TP53 alleles in pancreatic ductal adenocarcinoma in vivo. Cancer Research 2024, 84: b084-b084. DOI: 10.1158/1538-7445.pancreatic24-b084.
Abstract PR-01: Systemic targeting of therapeutic RNA to pancreatic ductal adenocarcinoma via a novel, cell-penetrating, and nucleic acid-binding monoclonal antibodyMartinez-Saucedo D, Quijano E, Ianniello Z, Rackear M, Liu Y, Hegan D, Chen H, Shan X, Tseng R, Yugawa D, Pinto-Medici N, Chowdhury S, Bindra R, Robert M, Saltzman W, Escobar-Hoyos L, Glazer P. Abstract PR-01: Systemic targeting of therapeutic RNA to pancreatic ductal adenocarcinoma via a novel, cell-penetrating, and nucleic acid-binding monoclonal antibody. Cancer Research 2024, 84: pr-01-pr-01. DOI: 10.1158/1538-7445.pancreatic24-pr-01.
Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders databaseCurtis K, Echeandia-Francis C, Falotico J, Luo A, Qiu Y, Grover C, Piraccini B, Choate K, Lipner S. Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database. Journal Of The American Academy Of Dermatology 2024 PMID: 39278313, DOI: 10.1016/j.jaad.2024.08.063.
An unusual case of primary melioidotic prostatic disease: Misdiagnosed as benign prostatic hyperplasiaCai Y, Jiang H, Li T, Luo D, Li P, Wang Y. An unusual case of primary melioidotic prostatic disease: Misdiagnosed as benign prostatic hyperplasia. Heliyon 2024, 10: e37906. PMID: 39323819, PMCID: PMC11422042, DOI: 10.1016/j.heliyon.2024.e37906.
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studiesShyr D, Dey R, Li X, Zhou H, Boerwinkle E, Buyske S, Daly M, Gibbs R, Hall I, Matise T, Reeves C, Stitziel N, Zody M, Neale B, Lin X. Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. American Journal Of Human Genetics 2024, 111: 2129-2138. PMID: 39270648, PMCID: PMC11480788, DOI: 10.1016/j.ajhg.2024.08.018.
Reconstructing human-specific regulatory functions in model systemsBaumgartner M, Ji Y, Noonan J. Reconstructing human-specific regulatory functions in model systems. Current Opinion In Genetics & Development 2024, 89: 102259. PMID: 39270593, PMCID: PMC11588545, DOI: 10.1016/j.gde.2024.102259.
Organization of a functional glycolytic metabolon on mitochondria for metabolic efficiencyWang H, Vant J, Zhang A, Sanchez R, Wu Y, Micou M, Luczak V, Whiddon Z, Carlson N, Yu S, Jabbo M, Yoon S, Abushawish A, Ghassemian M, Masubuchi T, Gan Q, Watanabe S, Griffis E, Hammarlund M, Singharoy A, Pekkurnaz G. Organization of a functional glycolytic metabolon on mitochondria for metabolic efficiency. Nature Metabolism 2024, 6: 1712-1735. PMID: 39261628, DOI: 10.1038/s42255-024-01121-9.
Akt is a mediator of artery specification during zebrafish developmentZhou W, Ghersi J, Ristori E, Semanchik N, Prendergast A, Zhang R, Carneiro P, Baldissera G, Sessa W, Nicoli S. Akt is a mediator of artery specification during zebrafish development. Development 2024, 151: dev202727. PMID: 39101673, PMCID: PMC11441982, DOI: 10.1242/dev.202727.
313 BEST4+ CFTR high expresser cells in normal rat are neuropods that sense and respond to luminal pH and are altered in dF508 CF intestineJin J, dos Reis D, Muiler C, Zagoren E, Donnelley M, Parsons D, Sumigray K, Ameen N. 313 BEST4+ CFTR high expresser cells in normal rat are neuropods that sense and respond to luminal pH and are altered in dF508 CF intestine. Journal Of Cystic Fibrosis 2024, 23: s167. DOI: 10.1016/s1569-1993(24)01153-6.
The next Nobel Prize in chemistry or in physiology or medicineKadoch C, Sheltzer J, Yin H. The next Nobel Prize in chemistry or in physiology or medicine. Cell Chemical Biology 2024, 31: 1566-1567. PMID: 39303696, DOI: 10.1016/j.chembiol.2024.08.013.
Massively parallel approaches for characterizing noncoding functional variation in human evolutionRong S, Root E, Reilly S. Massively parallel approaches for characterizing noncoding functional variation in human evolution. Current Opinion In Genetics & Development 2024, 88: 102256. PMID: 39217658, DOI: 10.1016/j.gde.2024.102256.
Association patterns of antisocial personality disorder across substance use disordersLow A, Stiltner B, Nunez Y, Adhikari K, Deak J, Pietrzak R, Kranzler H, Gelernter J, Polimanti R. Association patterns of antisocial personality disorder across substance use disorders. Translational Psychiatry 2024, 14: 346. PMID: 39198385, PMCID: PMC11358160, DOI: 10.1038/s41398-024-03054-z.
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flowKim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.
Functional Roles of H3K4 Methylation in Transcriptional RegulationYu H, Lesch B. Functional Roles of H3K4 Methylation in Transcriptional Regulation. Molecular And Cellular Biology 2024, 44: 505-515. PMID: 39155435, PMCID: PMC11529435, DOI: 10.1080/10985549.2024.2388254.
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disordersBibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.
Individual variation in the emergence of anterior-to-posterior neural fates from human pluripotent stem cellsKim S, Seo S, Stein-O’Brien G, Jaishankar A, Ogawa K, Micali N, Luria V, Karger A, Wang Y, Kim H, Hyde T, Kleinman J, Voss T, Fertig E, Shin J, Bürli R, Cross A, Brandon N, Weinberger D, Chenoweth J, Hoeppner D, Sestan N, Colantuoni C, McKay R. Individual variation in the emergence of anterior-to-posterior neural fates from human pluripotent stem cells. Stem Cell Reports 2024, 19: 1336-1350. PMID: 39151428, PMCID: PMC11411333, DOI: 10.1016/j.stemcr.2024.07.004.
Human genetics and epigenetics of alcohol use disorderZhou H, Gelernter J. Human genetics and epigenetics of alcohol use disorder. Journal Of Clinical Investigation 2024, 134: e172885. PMID: 39145449, PMCID: PMC11324314, DOI: 10.1172/jci172885.
Clinical features and outcomes in kidney transplant recipients with COVID-19 pneumonia: a single center retrospective cohort studyXu L, Chen X, Yang X, Chen S, Yang M, Yuan Z, Chen R, Wang J, Jiang H, Xu J, Wang Y. Clinical features and outcomes in kidney transplant recipients with COVID-19 pneumonia: a single center retrospective cohort study. Frontiers In Cellular And Infection Microbiology 2024, 14: 1392491. PMID: 39211792, PMCID: PMC11358093, DOI: 10.3389/fcimb.2024.1392491.
Loss of TGFβ-Mediated Repression of Angiopoietin-2 in Pericytes Underlies Germinal Matrix Hemorrhage PathogenesisDave J, Chakraborty R, Agyemang A, Ntokou A, Saito J, Ballabh P, Martin K, Greif D. Loss of TGFβ-Mediated Repression of Angiopoietin-2 in Pericytes Underlies Germinal Matrix Hemorrhage Pathogenesis. Stroke 2024, 55: 2340-2352. PMID: 39129597, PMCID: PMC11347087, DOI: 10.1161/strokeaha.123.045248.
CAR-T and CAR-NK as cellular cancer immunotherapy for solid tumorsPeng L, Sferruzza G, Yang L, Zhou L, Chen S. CAR-T and CAR-NK as cellular cancer immunotherapy for solid tumors. Cellular & Molecular Immunology 2024, 21: 1089-1108. PMID: 39134804, PMCID: PMC11442786, DOI: 10.1038/s41423-024-01207-0.
DNA methylation in mammalian development and diseaseSmith Z, Hetzel S, Meissner A. DNA methylation in mammalian development and disease. Nature Reviews Genetics 2024, 1-24. PMID: 39134824, DOI: 10.1038/s41576-024-00760-8.
A genome-wide investigation into the underlying genetic architecture of personality traits and overlap with psychopathologyGupta P, Galimberti M, Liu Y, Beck S, Wingo A, Wingo T, Adhikari K, Kranzler H, Stein M, Gelernter J, Levey D. A genome-wide investigation into the underlying genetic architecture of personality traits and overlap with psychopathology. Nature Human Behaviour 2024, 8: 2235-2249. PMID: 39134740, PMCID: PMC11576509, DOI: 10.1038/s41562-024-01951-3.
Lipocoacervate, a tunable vesicle for protein deliveryYeh C, Wright N, Loh C, Chu N, Wang Y. Lipocoacervate, a tunable vesicle for protein delivery. Nano Research 2024, 17: 9135-9140. DOI: 10.1007/s12274-024-6889-6.
Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutationGupta A, Barone C, Quijano E, Piotrowski-Daspit A, Perera J, Riccardi A, Jamali H, Turchick A, Zao W, Saltzman W, Glazer P, Egan M. Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation. Journal Of Cystic Fibrosis 2024 PMID: 39107154, DOI: 10.1016/j.jcf.2024.07.009.
Cardiac regeneration in goldfish (Carassius auratus) associated with increased expression of key extracellular matrix moleculesWebb C, Wang Y. Cardiac regeneration in goldfish (Carassius auratus) associated with increased expression of key extracellular matrix molecules. The Anatomical Record 2024 PMID: 39092661, DOI: 10.1002/ar.25549.
The amalgam of naive CD4+ T cell transcriptional states is reconfigured by helminth infection to dampen the amplitude of the immune responseEven Z, Meli A, Tyagi A, Vidyarthi A, Briggs N, de Kouchkovsky D, Kong Y, Wang Y, Waizman D, Rice T, De Kumar B, Wang X, Palm N, Craft J, Basu M, Ghosh S, Rothlin C. The amalgam of naive CD4+ T cell transcriptional states is reconfigured by helminth infection to dampen the amplitude of the immune response. Immunity 2024, 57: 1893-1907.e6. PMID: 39096910, PMCID: PMC11421571, DOI: 10.1016/j.immuni.2024.07.006.

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