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Kojak N, Kuno J, Fittipaldi KE, Khan A, Wenger D, Glasser M, Donnianni RA, Tang Y, Zhang J, Huling K, Ally R, Mujica AO, Turner T, Magardino G, Huang PY, Kerk SY, Droguett G, Prissette M, Rojas J, Gomez T, Gagliardi A, Hunt C, Rabinowitz JS, Gong G, Poueymirou W, Chiao E, Zambrowicz B, Siao CJ, Kajimura D, Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model.
Nucleic acids research : 2024
PubMed ID: 38597682 View Samples |
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Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.
Stem cell research 77:103407 2024
PubMed ID: 38552357 View Samples |
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Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.
Stem cell research 77:103405 2024
PubMed ID: 38555716 View Samples |
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Bieler J, Kubik S, Macheret M, Pozzorini C, Willig A, Xu Z, Benefits of applying molecular barcoding systems are not uniform across different genomic applications.
Journal of translational medicine 21:305 2023
PubMed ID: 37147717 View Samples |
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Blümke A, Ijeoma E, Simon J, Wellington R, Purwaningrum M, Doulatov S, Leber E, Scatena M, Giachelli CM, Comparison of osteoclast differentiation protocols from human induced pluripotent stem cells of different tissue origins.
Research square : 2023
PubMed ID: 37461708 View Samples |
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Bobba-Alves N, Sturm G, Lin J, Ware SA, Karan KR, Monzel AS, Bris C, Procaccio V, Lenaers G, Higgins-Chen A, Levine M, Horvath S, Santhanam BS, Kaufman BA, Hirano M, Epel E, Picard M, Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging.
Psychoneuroendocrinology 155:106322 2023
PubMed ID: 37423094 View Samples |
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Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program.
Proceedings of the National Academy of Sciences of the United States of America 120:e2213896120 2023
PubMed ID: 36848554 View Samples |
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Bramwell LR, Harries LW, Senescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes.
GeroScience : 2023
PubMed ID: 37751047 View Samples |
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Carregari VC, Reis-de-Oliveira G, Crunfli F, Smith BJ, de Souza GF, Muraro SP, Saia-Cereda VM, Vendramini PH, Baldasso PA, Silva-Costa LC, Zuccoli GS, Brandão-Teles C, Antunes A, Valença AF, Davanzo GG, Virgillio-da-Silva JV, Dos Reis Araújo T, Guimarães RC, Chaim FDM, Chaim EA, Kawagosi Onodera CM, Ludwig RG, Saccon TD, Damásio ARL, Leiria LOS, Vinolo MAR, Farias AS, Moraes-Vieira PM, Mori MA, Módena JLP, Martins-de-Souza D, Diving into the proteomic atlas of SARS-CoV-2 infected cells.
Scientific reports 14:7375 2023
PubMed ID: 38548777 View Samples |
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Castelli LM, Lin YH, Sanchez-Martinez A, Gül A, Mohd Imran K, Higginbottom A, Upadhyay SK, Márkus NM, Rua Martins R, Cooper-Knock J, Montmasson C, Cohen R, Walton A, Bauer CS, De Vos KJ, Mead RJ, Azzouz M, Dominguez C, Ferraiuolo L, Shaw PJ, Whitworth AJ, Hautbergue GM, A cell-penetrant peptide blocking.
Science translational medicine 15:eabo3823 2023
PubMed ID: 36857431 View Samples |
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Cui Q, Jeyachandran AV, Garcia G, Qin C, Zhou Y, Zhang M, Wang C, Sun G, Liu W, Zhou T, Feng L, Palmer C, Li Z, Aziz A, Gomperts BN, Feng P, Arumugaswami V, Shi Y, The Apolipoprotein E neutralizing antibody inhibits SARS-CoV-2 infection by blocking cellular entry of lipoviral particles.
MedComm 4:e400 2023
PubMed ID: 37822714 View Samples |
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Davide D, Federica C, Marco B, Elisa B, Silvia M, Giulia T, Federica D, Ottaviani D, Elena M, Luigi L, Elisa G, Elena Z, Antonella R, Milena B, Geppo S, Donatella C, Leonardo S, Paola C, Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Cell death & disease 14:805 2023
PubMed ID: 38062036 View Samples |
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De Coster T, Van Poucke M, Bogado Pascottini O, Angel-Velez D, Van den Branden E, Peere S, Papas M, Gerits I, Govaere J, Peelman L, Vermeesch JR, Van Soom A, Smits K, Single closed-tube quantitative real-time PCR assay with dual-labelled probes for improved sex determination of equine embryos.
Animal : an international journal of animal bioscience 17:100952 2023
PubMed ID: 37913607 View Samples |
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De Serres-Bérard T, Jauvin D, Puymirat J, Chahine M, Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A).
Stem cell research 72:103234 2023
PubMed ID: 37871474 View Samples |
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Deng N, Wu YY, Feng Y, Hsieh WC, Song JS, Lin YS, Tseng YH, Liao WJ, Chu YF, Liu YC, Chang EC, Liu CR, Sheu SY, Su MT, Kuo HC, Cohen SN, Cheng TH, Chemical interference with DSIF complex formation lowers synthesis of mutant huntingtin gene products and curtails mutant phenotypes.
Proceedings of the National Academy of Sciences of the United States of America 119:e2204779119 2023
PubMed ID: 35914128 View Samples |
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Diamond A, Karhadkar S, Chavin K, Constantinescu S, Lau KN, Perez-Leal O, Mohrien K, Sifontis N, Di Carlo A, Dosing strategies for.
World journal of transplantation 13:368-378 2023
PubMed ID: 38174147 View Samples |
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Doman JL, Pandey S, Neugebauer ME, An M, Davis JR, Randolph PB, McElroy A, Gao XD, Raguram A, Richter MF, Everette KA, Banskota S, Tian K, Tao YA, Tolar J, Osborn MJ, Liu DR, Phage-assisted evolution and protein engineering yield compact, efficient prime editors.
Cell 186:3983-4002.e26 2023
PubMed ID: 37657419 View Samples |
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Dorion MF, Yaqubi M, Senkevich K, Kieran NW, MacDonald A, Chen CX, Luo W, Wallis A, Shlaifer I, Hall JA, Dudley RWR, Glass IA, Birth Defects Research Laboratory IA, Stratton JA, Fon E, Bartels T, Antel JP, Gan-Or Z, Durcan TM, Healy LM, MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
Brain : a journal of neurology : 2023
PubMed ID: 37671615 View Samples |
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Duarte F, Ramosaj M, Hasanovic E, Regio S, Sipion M, Rey M, Déglon N, Semi-automated workflows to quantify AAV transduction in various brain areas and predict gene editing outcome for neurological disorders.
Molecular therapy Methods & clinical development 29:254-270 2023
PubMed ID: 37090478 View Samples |
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Dyke E, Bijnagte-Schoenmaker C, Wu KM, Oudakker A, Roepman R, Nadif Kasri N, Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9.
Stem cell research 68:103053 2023
PubMed ID: 36842376 View Samples |
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Edwards N, Combrinck C, McCaughey-Chapman A, Connor B, Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation.
Frontiers in cellular neuroscience 17:1254412 2023
PubMed ID: 37810261 View Samples |
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Errichiello E, Lecca M, Vantaggiato C, Motta Z, Zanotta N, Zucca C, Bertuzzo S, Piubelli L, Pollegioni L, Bonaglia MC, Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.
European journal of human genetics : EJHG : 2023
PubMed ID: 38605125 View Samples |
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Essawy M, Chesner L, Alshareef D, Ji S, Tretyakova N, Campbell C, Ubiquitin signaling and the proteasome drive human DNA-protein crosslink repair.
Nucleic acids research 51:12174-12184 2023
PubMed ID: 37843153 View Samples |
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Fatica T, Naas T, Liwak U, Slaa H, Souaid M, Frangione B, Kattini R, Gaudreau-Lapierre A, Trinkle-Mulcahy L, Chakraborty P, Holcik M, TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.
Genes 14: 2023
PubMed ID: 37239403 View Samples |
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Feng L, Chao J, Zhang M, Pacquing E, Hu W, Shi Y, Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases.
iScience 26:108037 2023
PubMed ID: 37867939 View Samples |
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Frenz-Wiessner S, Fairley SD, Buser M, Goek I, Salewskij K, Jonsson G, Illig D, Zu Putlitz B, Petersheim D, Li Y, Chen PH, Kalauz M, Conca R, Sterr M, Geuder J, Mizoguchi Y, Megens RTA, Linder MI, Kotlarz D, Rudelius M, Penninger JM, Marr C, Klein C, Generation of complex bone marrow organoids from human induced pluripotent stem cells.
Nature methods : 2023
PubMed ID: 38374263 View Samples |
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Gaffke L, Pierzynowska K, Cyske Z, Podlacha M, Wegrzyn G, Contribution of vesicle trafficking dysregulation to the pathomechanism of mucopolysaccharidosis.
Biochemical and biophysical research communications 665:107-117 2023
PubMed ID: 37149983 View Samples |
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Geben LC, Brockman AA, Chalkley MBL, Sweet SR, Gallagher JE, Scheuing AL, Simerly RB, Ess KC, Irish JM, Ihrie RA, Dephosphorylation of 4EBP1/2 Induces Prenatal Neural Stem Cell Quiescence.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36824760 View Samples |
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Gilpatrick T, Wang JZ, Weiss D, Norris AL, Eshleman J, Timp W, IVT generation of guideRNAs for Cas9-enrichment Nanopore Sequencing.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36798399 View Samples |
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Gimeno-Valiente F, Martín-Arana J, Tébar-Martínez R, Gambardella V, Martínez-Ciarpaglini C, García-Micó B, Martínez-Castedo B, Palomar B, García-Bartolomé M, Seguí V, Huerta M, Moro-Valdezate D, Pla-Martí V, Pérez-Santiago L, Roselló S, Roda D, Cervantes A, Tarazona N, Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer.
ESMO open 8:102051 2023
PubMed ID: 37951129 View Samples |
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Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach.
Diagnostics (Basel, Switzerland) 14: 2023
PubMed ID: 38201393 View Samples |
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Gomez Ramos B, Ohnmacht J, de Lange N, Valceschini E, Ginolhac A, Catillon M, Ferrante D, Rakovic A, Halder R, Massart F, Arena G, Antony P, Bolognin S, Klein C, Krause R, Schulz MH, Sauter T, Krüger R, Sinkkonen L, Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation.
EMBO reports : 2023
PubMed ID: 38177910 View Samples |
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Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic.
Journal of translational medicine 21:378 2023
PubMed ID: 37301971 View Samples |
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Hagey DW, Ojansivu M, Bostancioglu BR, Saher O, Bost JP, Gustafsson MO, Gramignoli R, Svahn M, Gupta D, Stevens MM, Görgens A, El Andaloussi S, The cellular response to extracellular vesicles is dependent on their cell source and dose.
Science advances 9:eadh1168 2023
PubMed ID: 37656796 View Samples |
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Hamamoto A, Kita N, Gowda SGB, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease.
Cell structure and function : 2023
PubMed ID: 38072450 View Samples |
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Hansen T, Fong S, Capra JA, Hodges E, Human gene regulatory evolution is driven by the divergence of regulatory element function in both.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36824965 View Samples |
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Hasan S, Fernandopulle MS, Humble SW, Frankenfield AM, Li H, Prestil R, Johnson KR, Ryan BJ, Wade-Martins R, Ward ME, Hao L, Multi-modal Proteomic Characterization of Lysosomal Function and Proteostasis in Progranulin-Deficient Neurons.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36865171 View Samples |
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Hendricks E, Quihuis AM, Hung ST, Chang J, Dorjsuren N, Der B, Staats KA, Shi Y, Sta Maria NS, Jacobs RE, Ichida JK, The C9ORF72 repeat expansion alters neurodevelopment.
Cell reports 42:112983 2023
PubMed ID: 37590144 View Samples |
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Hilbert ZA, Haffener PE, Young HJ, Schwiesow MJW, Leffler EM, Elde NC, Rapid Evolution of Glycan Recognition Receptors Reveals an Axis of Host-Microbe Arms Races beyond Canonical Protein-Protein Interfaces.
Genome biology and evolution 15: 2023
PubMed ID: 37390614 View Samples |
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Kalia AK, Rösseler C, Granja-Vazquez R, Ahmad A, Pancrazio JJ, Neureiter A, Zhang M, Sauter D, Vetter I, Andersson A, Dussor G, Price TJ, Kolber BJ, Truong V, Walsh P, Lampert A, How to differentiate induced pluripotent stem cells into sensory neurons for disease modelling: a functional assessment.
Stem cell research & therapy 15:99 2023
PubMed ID: 38581069 View Samples |
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Kamienieva I, Charzynska A, Duszynski J, Malinska D, Szczepanowska J, In search for mitochondrial biomarkers of Parkinson's disease: Findings in parkin-mutant human fibroblasts.
Biochimica et biophysica acta Molecular basis of disease 1869:166787 2023
PubMed ID: 37302428 View Samples |
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Kanji CR, Mbavha BT, Masimirembwa C, Thelingwani RS, Analytical validation of GenoPharm a clinical genotyping open array panel of 46 pharmacogenes inclusive of variants unique to people of African ancestry.
PloS one 18:e0292131 2023
PubMed ID: 37788265 View Samples |
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Karbassi E, Padgett R, Bertero A, Reinecke H, Klaiman JM, Yang X, Hauschka SD, Murry CE, Targeted CRISPR activation is functional in engineered human pluripotent stem cells but undergoes silencing after differentiation into cardiomyocytes and endothelium.
Cellular and molecular life sciences : CMLS 81:95 2023
PubMed ID: 38372898 View Samples |
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Kim J, Hwang Y, Kim S, Chang Y, Kim Y, Kwon Y, Kim J, Transcriptional activation of endogenous Oct4 via the CRISPR/dCas9 activator ameliorates Hutchinson-Gilford progeria syndrome in mice.
Aging cell :e13825 2023
PubMed ID: 36964992 View Samples |
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Kita N, Hamamoto A, B Gowda SG, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis.
Journal of lipid research :100508 2023
PubMed ID: 38280458 View Samples |
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Kordala AJ, Stoodley J, Ahlskog N, Hanifi M, Garcia Guerra A, Bhomra A, Lim WF, Murray LM, Talbot K, Hammond SM, Wood MJ, Rinaldi C, PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice.
EMBO molecular medicine :e17683 2023
PubMed ID: 37724723 View Samples |
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Kotlov N, Shaposhnikov K, Tazearslan C, Chasse M, Baisangurov A, Podsvirova S, Fernandez D, Abdou M, Kaneunyenye L, Morgan K, Cheremushkin I, Zemskiy P, Chelushkin M, Sorokina M, Belova E, Khorkova S, Lozinsky Y, Nuzhdina K, Vasileva E, Kravchenko D, Suryamohan K, Nomie K, Curran J, Fowler N, Bagaev A, Procrustes is a machine-learning approach that removes cross-platform batch effects from clinical RNA sequencing data.
Communications biology 7:392 2023
PubMed ID: 38555407 View Samples |
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Kvapilova K, Misenko P, Radvanszky J, Brzon O, Budis J, Gazdarica J, Pos O, Korabecna M, Kasny M, Szemes T, Kvapil P, Paces J, Kozmik Z, Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
BMC genomics 25:187 2023
PubMed ID: 38365587 View Samples |
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Lavekar SS, Harkin J, Hernandez M, Gomes C, Patil S, Huang KC, Puntambekar SS, Lamb BT, Meyer JS, Development of a three-dimensional organoid model to explore early retinal phenotypes associated with Alzheimer's disease.
Scientific reports 13:13827 2023
PubMed ID: 37620502 View Samples |
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Lavekar SS, Harkin J, Hernandez M, Gomes C, Patil S, Huang KC, Puntambekar SS, Lamb BT, Meyer JS, Development of a three-dimensional organoid model to explore early retinal phenotypes associated with Alzheimer's disease.
Scientific reports 13:13827 2023
PubMed ID: 37620502 View Samples |
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Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E, Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clinical genetics : 2023
PubMed ID: 37038048 View Samples |
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Lee H, Aylward AJ, Pearse RV, Hsieh YC, Augur ZM, Benoit CR, Chou V, Knupp A, Pan C, Goberdhan S, Duong DM, Seyfried NT, Bennett DA, Klein HU, De Jager PL, Menon V, Young JE, Young-Pearse TL, Cell-type-specific regulation of APOE levels in human neurons by the Alzheimer's disease risk gene SORL1.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36865313 View Samples |
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Lin CY, Basu K, Ruusala A, Kozlova I, Li YS, Skandalis SS, Heldin CH, Heldin P, Hyaluronan-Induced CD44-iASPP Interaction Affects Fibroblast Migration and Survival.
Cancers 15: 2023
PubMed ID: 36831425 View Samples |
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Lindenkamp C, Plümers R, Osterhage MR, Vanakker OM, Van Wynsberghe J, Knabbe C, Hendig D, The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.
Biomedicines 11: 2023
PubMed ID: 37893046 View Samples |
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Liu MH, Costa B, Choi U, Bandler RC, Lassen E, Gronska-Peski M, Schwing A, Murphy ZR, Rosenkjær D, Picciotto S, Bianchi V, Stengs L, Edwards M, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD, Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36824744 View Samples |
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Liu Z, Chao J, Wang C, Sun G, Roeth D, Liu W, Chen X, Li L, Tian E, Feng L, Davtyan H, Blurton-Jones M, Kalkum M, Shi Y, Astrocytic response mediated by the CLU risk allele inhibits OPC proliferation and myelination in a human iPSC model.
Cell reports 42:112841 2023
PubMed ID: 37494190 View Samples |
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Llach Pou M, Thiberge C, Van der Zwan M, Devi Govindan A, Pons S, Maskos U, Cloëz-Tayarani I, Developmental Changes of Human Neural Progenitor Cells Grafted into the Ventricular System and Prefrontal Cortex of Mouse Brain in Utero.
Cells 12: 2023
PubMed ID: 37048140 View Samples |
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Matsuura H, Akahane S, Kaido T, Kamijo T, Sakamoto K, Yamauchi K, Apolipoprotein E isoforms and their Cys-thiol modifications impact LRP1-mediated metabolism of triglyceride-rich lipoproteins.
FEBS letters : 2023
PubMed ID: 38279679 View Samples |
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Mazouzi A, Moser SC, Abascal F, van den Broek B, Del Castillo Velasco-Herrera M, van der Heijden I, Hekkelman M, Drenth AP, van der Burg E, Kroese LJ, Jalink K, Adams DJ, Jonkers J, Brummelkamp TR, FIRRM/C1orf112 mediates resolution of homologous recombination intermediates in response to DNA interstrand crosslinks.
Science advances 9:eadf4409 2023
PubMed ID: 37256941 View Samples |
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Merav M, Bitensky EM, Heilbrun EE, Hacohen T, Kirshenbaum A, Golan-Berman H, Cohen Y, Adar S, Gene architecture is a determinant of the transcriptional response to bulky DNA damages.
Life science alliance 7: 2023
PubMed ID: 38167611 View Samples |
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Mijdam R, Bijnagte-Schoenmaker C, Dyke E, Moons SJ, Boltje TJ, Nadif Kasri N, Lefeber DJ, Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons.
Journal of neurochemistry 167:76-89 2023
PubMed ID: 37650222 View Samples |
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Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA, Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Nature genetics 55:1920-1928 2023
PubMed ID: 37872450 View Samples |
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Mulcrone PL, Lam AK, Frabutt D, Zhang J, Chrzanowski M, Herzog RW, Xiao W, Chemical modification of AAV9 capsid with N-ethyl maleimide alters vector tissue tropism.
Scientific reports 13:8436 2023
PubMed ID: 37231038 View Samples |
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Naito Y, Sakamoto S, Kojima T, Homma M, Tanaka M, Matsui H, Novel beta-glucocerebrosidase chaperone compounds identified from cell-based screening reduce pathologically accumulated glucosylsphingosine in iPS-derived neuronal cells.
SLAS discovery : advancing life sciences R & D : 2023
PubMed ID: 37369311 View Samples |
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Nunes MJ, Carvalho AN, Reis J, Costa D, Moutinho M, Mateus J, de Almeida RM, Brito S, Risso D, Nunes S, Castro-Caldas M, Gama MJ, Rodrigues CMP, Xapelli S, Diógenes MJ, Cartier N, Chali F, Piguet F, Rodrigues E, Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.
Biochimica et biophysica acta Molecular basis of disease :166993 2023
PubMed ID: 38142760 View Samples |
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Oguntuyo K, Schuftan D, Guo J, Simmons D, Bhagavan D, Moreno JD, Kang PW, Miller E, Silva JR, Huebsch N, Robust, Automated Analysis of Electrophysiology in Induced Pluripotent Stem Cell-Derived Micro-Heart Muscle for Drug Toxicity.
Tissue engineering Part C, Methods 28:457-468 2023
PubMed ID: 35925789 View Samples |
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Ottesen EW, Seo J, Luo D, Singh NN, Singh RN, A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes.
Nucleic acids research : 2023
PubMed ID: 38214229 View Samples |
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Ottesen EW, Singh NN, Luo D, Kaas B, Gillette BJ, Seo J, Jorgensen HJ, Singh RN, Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy.
Nucleic acids research : 2023
PubMed ID: 37026480 View Samples |
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Pang AWC, Kosco K, Sahajpal NS, Sridhar A, Hauenstein J, Clifford B, Estabrook J, Chitsazan AD, Sahoo T, Iqbal A, Kolhe R, Raca G, Hastie AR, Chaubey A, Analytic Validation of Optical Genome Mapping in Hematological Malignancies.
Biomedicines 11: 2023
PubMed ID: 38137484 View Samples |
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Paranjape N, Lin YT, Flores-Ramirez Q, Sarin V, Johnson AB, Chu J, Paredes M, Wiita AP, A CRISPR-engineered isogenic model of the 22q112 A-B syndromic deletion.
Scientific reports 13:7689 2023
PubMed ID: 37169815 View Samples |
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Parodi G, Brofiga M, Pastore VP, Chiappalone M, Martinoia S, Deepening the role of excitation/inhibition balance in human iPSCs-derived neuronal networks coupled to MEAs during long-term development.
Journal of neural engineering 20: 2023
PubMed ID: 37678214 View Samples |
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Pazin WM, Miranda RR, Toledo KA, Kjeldsen F, Constantino CJL, Brewer JR, pH-Dependence Cytotoxicity Evaluation of Artepillin C against Tumor Cells.
Life (Basel, Switzerland) 13: 2023
PubMed ID: 38004326 View Samples |
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Pena N, Richbourg T, Gonzalez-Hunt CP, Qi R, Wren P, Barlow C, Shanks NF, Carlisle HJ, Sanders LH, G2019S selective LRRK2 kinase inhibitor abrogates mitochondrial DNA damage.
NPJ Parkinson's disease 10:49 2023
PubMed ID: 38429321 View Samples |
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Pettersson L, Westerling S, Talla V, Sendel A, Wennberg L, Olsson R, Hedrum A, Hauzenberger D, Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation.
Clinica chimica acta; international journal of clinical chemistry 552:117647 2023
PubMed ID: 37951377 View Samples |
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Pettersson L, Westerling S, Talla V, Sendel A, Wennberg L, Olsson R, Hedrum A, Hauzenberger D, Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation.
Clinica chimica acta; international journal of clinical chemistry 552:117647 2023
PubMed ID: 37951377 View Samples |
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Plümers R, Lindenkamp C, Osterhage MR, Knabbe C, Hendig D, Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum.
Biomolecules 13: 2023
PubMed ID: 37189419 View Samples |
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Rossiaud L, Pellier E, Benabides M, Nissan X, Ronzitti G, Hoch L, Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III.
Stem cell research 72:103214 2023
PubMed ID: 37769385 View Samples |
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Rouleau M, Villeneuve L, Allain EP, McCabe-Leroux J, Tremblay S, Nguyen Van Long F, Uchil A, Joly-Beauparlant C, Droit A, Guillemette C, Non-canonical transcriptional regulation of the poor prognostic factor UGT2B17 in chronic lymphocytic leukemic and normal B cells.
BMC cancer 24:410 2023
PubMed ID: 38566115 View Samples |
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Rudinskiy M, Pons-Vizcarra M, Soldà T, Fregno I, Bergmann TJ, Ruano A, Delgado A, Morales S, Barril X, Bellotto M, Cubero E, García-Collazo AM, Pérez-Carmona N, Molinari M, Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric ß-Galactosidase correctors.
PloS one 18:e0294437 2023
PubMed ID: 38019733 View Samples |
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San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC, The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 37333288 View Samples |
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Sansa A, Miralles MP, Beltran M, Celma-Nos F, Calderó J, Garcera A, Soler RM, ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons.
Cell death discovery 9:113 2023
PubMed ID: 37019880 View Samples |
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Sarmini L, Meabed M, Emmanouil E, Atsaves G, Robeska E, Karwowski BT, Campalans A, Gimisis T, Khobta A, Requirement of transcription-coupled nucleotide excision repair for the removal of a specific type of oxidatively induced DNA damage.
Nucleic acids research : 2023
PubMed ID: 37026475 View Samples |
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Sarmini L, Meabed M, Emmanouil E, Atsaves G, Robeska E, Karwowski BT, Campalans A, Gimisis T, Khobta A, Requirement of transcription-coupled nucleotide excision repair for the removal of a specific type of oxidatively induced DNA damage.
Nucleic acids research : 2023
PubMed ID: 37026475 View Samples |
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Scherthan H, Geiger B, Ridinger D, Müller J, Riccobono D, Bestvater F, Port M, Hausmann M, Nano-Architecture of Persistent Focal DNA Damage Regions in the Minipig Epidermis Weeks after Acute ?-Irradiation.
Biomolecules 13: 2023
PubMed ID: 37892200 View Samples |
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Sekine S, Takase S, Hayase R, Noritsugu K, Maemoto Y, Ichikawa Y, Ogawa K, Kondoh Y, Osada H, Yoshida M, Ito A, Identification of a derivative of the alkaloid emetine as an inhibitor of the YAP-TEAD interaction and its potential as an anticancer agent.
Bioscience, biotechnology, and biochemistry 87:501-510 2023
PubMed ID: 36809780 View Samples |
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Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR, Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene.
medRxiv : the preprint server for health sciences : 2023
PubMed ID: 36778397 View Samples |
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Simmons DW, Schuftan DR, Ramahdita G, Huebsch N, Hydrogel-Assisted Double Molding Enables Rapid Replication of Stereolithographic 3D Prints for Engineered Tissue Design.
ACS applied materials & interfaces 15:25313-25323 2023
PubMed ID: 37200617 View Samples |
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Sirocchi C, Biancucci F, Donati M, Bogliolo A, Magnani M, Menotta M, Montagna S, Exploring machine learning for untargeted metabolomics using molecular fingerprints.
Computer methods and programs in biomedicine 250:108163 2023
PubMed ID: 38626559 View Samples |
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Snell D, Gunde T, Warmuth S, Chatterjee B, Brock M, Hess C, Johansson M, Simonin A, Spiga FM, Weinert C, Kirk N, Bassler N, Campos Carrascosa L, Flückiger N, Heiz R, Wagen S, Giezendanner N, Alberti A, Yaman Y, Mahler D, Diem D, Lichtlen P, Urech D, An engineered T-cell engager with selectivity for high mesothelin-expressing cells and activity in the presence of soluble mesothelin.
Oncoimmunology 12:2233401 2023
PubMed ID: 37456982 View Samples |
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Son SM, Park SJ, Breusegem SY, Larrieu D, Rubinsztein DC, p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson-Gilford progeria syndrome.
Nature cell biology : 2023
PubMed ID: 38267537 View Samples |
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Subramanian K, Chopra M, Kahali B, Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance.
HGG advances 5:100285 2023
PubMed ID: 38521976 View Samples |
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Sudhir PR, Lin TD, Zhang Q, HLA Allele-Specific Quantitative Profiling of Type 1 Diabetic B Lymphocyte Immunopeptidome.
Journal of proteome research 21:250-264 2023
PubMed ID: 34932366 View Samples |
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Sun J, Su M, Ma J, Xu M, Ma C, Li W, Liu R, He Q, Su Z, Cross-platform comparisons for targeted bisulfite sequencing of MGISEQ-2000 and NovaSeq6000.
Clinical epigenetics 15:130 2023
PubMed ID: 37582783 View Samples |
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Sun Z, Behati S, Wang P, Bhagwate A, McDonough S, Wang V, Taylor W, Cunningham J, Kisiel J, Performance comparisons of methylation and structural variants from low-input whole-genome methylation sequencing.
Epigenomics : 2023
PubMed ID: 36919677 View Samples |
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Tagad HD, Brito J, Marin A, Buckley C, Wang H, Sun J, Sukhishvili SA, Wang H, Andrianov AK, 4-Methylumbelliferone-Functionalized Polyphosphazene and Its Assembly into Biocompatible Fluorinated Nanocoatings with Selective Antiproliferative Activity.
Biomacromolecules : 2023
PubMed ID: 37071718 View Samples |
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Tian D, Cui M, Han M, Bacterial muropeptides promote OXPHOS and suppress mitochondrial stress in mammals.
Cell reports 43:114067 2023
PubMed ID: 38583150 View Samples |
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Tucker MH, Yu W, Menden HL, Xia S, Schreck CF, Gibson MI, Louiselle DA, Pastinen T, Raje N, Sampath V, IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection.
The Journal of clinical investigation : 2023
PubMed ID: 37097753 View Samples |
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Tuyaa-Boustugue P, Jantzen I, Zhang H, Young SP, Broqua P, Tallandier M, Entchev E, Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models.
Molecular genetics and metabolism reports 37:101011 2023
PubMed ID: 38053941 View Samples |
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Uchiyama S, Fukushima K, Katagiri S, Tsuchiya J, Kubo T, Chi S, Minami Y, Advancements in minimal residual disease detection: a practical approach using single-cell droplet PCR for comprehensive monitoring in hematological malignancy.
Therapeutic advances in hematology 15:20406207241245510 2023
PubMed ID: 38628436 View Samples |
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van Kuilenburg ABP, Hollak CEM, Travella A, Jacobs M, Gentilini LD, Leen R, der Vlugt KMMG, Stet FSB, Goorden SMI, van der Veen S, Criscuolo M, Papouchado M, Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation.
Drugs in R&D : 2023
PubMed ID: 37083901 View Samples |
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van Sluis M, Yu Q, van der Woude M, Gonzalo-Hansen C, Dealy SC, Janssens RC, Somsen HB, Ramadhin AR, Dekkers DHW, Wienecke HL, Demmers JJPG, Raams A, Davó-Martínez C, Llerena Schiffmacher DA, van Toorn M, Häckes D, Thijssen KL, Zhou D, Lammers JG, Pines A, Vermeulen W, Pothof J, Demmers JAA, van den Berg DLC, Lans H, Marteijn JA, Transcription-coupled DNA-protein crosslink repair by CSB and CRL4.
Nature cell biology : 2023
PubMed ID: 38600236 View Samples |
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Vargas-López V, Prada LF, Alméciga-Díaz CJ, Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Scientific reports 14:3961 2023
PubMed ID: 38368436 View Samples |
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Venkatarangan V, Zhang W, Yang X, Thoene JG, Hahn SH, Li M, ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
The Journal of clinical investigation : 2023
PubMed ID: 37561577 View Samples |
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Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles JB, Deitch BJ, Ochaba J, Ling K, Powers B, Gingras S, Kordasiewicz HB, Grubisha MJ, Huang YH, Thomas G, Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy.
Nature communications 14:6547 2023
PubMed ID: 37848409 View Samples |
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Vozza G, Bonetti E, Tini G, Favalli V, Frigè G, Bucci G, De Summa S, Zanfardino M, Zapelloni F, Mazzarella L, Benchmarking and improving the performance of variant-calling pipelines with RecallME.
Bioinformatics (Oxford, England) 39: 2023
PubMed ID: 38092052 View Samples |
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Wesley CC, Levy DL, Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
Molecular biology of the cell 34:ar10 2023
PubMed ID: 36598800 View Samples |
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Wesley CC, Levy DL, Differentiation-dependent changes in lamin B1 dynamics and lamin B receptor localization.
Molecular biology of the cell 34:ar10 2023
PubMed ID: 36598800 View Samples |
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Wheeler S, Bhardwaj M, Kenyon V, Ferraz MJ, Aerts JMFG, Sillence DJ, Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1.
FEBS letters : 2023
PubMed ID: 38302739 View Samples |
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Wieder N, Fried JC, Kim C, Sidhom EH, Brown MR, Marshall JL, Arevalo C, Dvela-Levitt M, Kost-Alimova M, Sieber J, Gabriel KR, Pacheco J, Clish C, Abbasi HS, Singh S, Rutter J, Therrien M, Yoon H, Lai ZW, Baublis A, Subramanian R, Devkota R, Small J, Sreekanth V, Han M, Lim D, Carpenter AE, Flannick J, Finucane H, Haigis MC, Claussnitzer M, Sheu E, Stevens B, Wagner BK, Choudhary A, Shaw JL, Pablo JL, Greka A, FALCON systematically interrogates free fatty acid biology and identifies a novel mediator of lipotoxicity.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 36865221 View Samples |
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Wu B, Li J, Wang H, Liu J, Li J, Sun F, Feng DC, RIPK1 is aberrantly expressed in multiple B-cell cancers and implicated in the underlying pathogenesis.
Discover Oncology 14:131 2023
PubMed ID: 37462822 View Samples |
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Wu J, Ren J, Cui H, Xie Y, Tang Y, Rapid and high-purity differentiation of human medium spiny neurons reveals LMNB1 hypofunction and subtype necessity in modeling Huntington's disease.
Inflammation and regeneration 44:7 2023
PubMed ID: 38360694 View Samples |
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Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X, Zoonomia Consortium† X, Lindblad-Toh K, Karlsson EK, Noonan JP, Capellini TD, Brennand KJ, Tewhey R, Sabeti PC, Reilly SK, The functional and evolutionary impacts of human-specific deletions in conserved elements.
Science (New York, NY) 380:eabn2253 2023
PubMed ID: 37104592 View Samples |
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Yi Z, Zhao Y, Yi Z, Zhang Y, Tang G, Zhang X, Tang H, Zhang W, Zhao Y, Xu H, Nie Y, Sun X, Xing L, Dai L, Yuan P, Wei W, Utilizing AAV-mediated LEAPER 20 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice.
Genome biology 24:243 2023
PubMed ID: 37872590 View Samples |
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Youn J, Rhyou J, Kim D, Lee J, Choi JW, Park TE, Kim DS, Facile and adhesive-free method for bonding nanofiber membrane onto thermoplastic polystyrene substrate to fabricate 3D cell culture platforms.
Materials today Bio 20:100648 2023
PubMed ID: 37214546 View Samples |
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Zabinska M, Gaffke L, Bielanska P, Podlacha M, Rintz E, Cyske Z, Wegrzyn G, Pierzynowska K, Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.
Pharmaceutics 15: 2023
PubMed ID: 36840025 View Samples |
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Zanini G, Parodi G, Chiappalone M, Martinoia S, Investigating the reliability of the evoked response in human iPSCs-derived neuronal networks coupled to micro-electrode arrays.
APL bioengineering 7:046121 2023
PubMed ID: 38130601 View Samples |
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Zhao H, Lu Y, Zhang J, Sun Z, Cheng C, Liu Y, Wu L, Zhang M, He W, Hao S, Li K, NCOA4 requires a [3Fe-4S] to sense and maintain the iron homeostasis.
The Journal of biological chemistry :105612 2023
PubMed ID: 38159858 View Samples |
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Zhong M, Balakrishnan B, Guo AJ, Lai K, AAV9-based.
Molecular genetics and metabolism reports 38:101035 2023
PubMed ID: 38130891 View Samples |
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Zhou LT, Liu D, Kang HC, Lu L, Huang HZ, Ai WQ, Zhou Y, Deng MF, Li H, Liu ZQ, Zhang WF, Hu YZ, Han ZT, Zhang HH, Jia JJ, Sarkar AK, Sharaydeh S, Wang J, Man HY, Schilling M, Bertram L, Lu Y, Guo Z, Zhu LQ, Tau pathology epigenetically remodels the neuron-glial cross-talk in Alzheimer's disease.
Science advances 9:eabq7105 2023
PubMed ID: 37083538 View Samples |
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Zhu Y, Tan Y, Li L, Xiang Y, Huang Y, Zhang X, Yin J, Li J, Lan F, Qian M, Hu J, Genome-wide mapping of protein-DNA damage interaction by PADD-seq.
Nucleic acids research 51:e32 2023
PubMed ID: 36715337 View Samples |
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