Publications (original articles or review articles) published in 2023 from OUS - Department of Medical Genetics
112 publications found
hSSB1 (NABP2/OBFC2B) modulates the DNA damage and androgen-induced transcriptional response in prostate cancer
Prostate, 83 (7), 628-640
DOI 10.1002/pros.24496, PubMed 36811381
Longitudinal Transcriptomic Analysis of Human Cortical Spheroids Identifies Axonal Dysregulation in the Prenatal Brain as a Mediator of Genetic Risk for Schizophrenia
Biol Psychiatry, 95 (7), 687-698
DOI 10.1016/j.biopsych.2023.08.017, PubMed 37661009
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071
Proteomic Analysis of Human iPSC-Derived Neural Stem Cells and Motor Neurons Identifies Proteasome Structural Alterations
Cells, 12 (24)
DOI 10.3390/cells12242800, PubMed 38132120
Mutant P53 in the formation and progression of the tumor microenvironment: Friend or foe
Life Sci, 315, 121361
DOI 10.1016/j.lfs.2022.121361, PubMed 36608871
Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa
Transl Psychiatry, 13 (1), 291
DOI 10.1038/s41398-023-02585-1, PubMed 37658054
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
BMC Cancer, 23 (1), 368
DOI 10.1186/s12885-023-10790-w, PubMed 37085799
Stochastic epithelial-mesenchymal transitions diversify non-cancerous lung cell behaviours
Transl Oncol, 37, 101760
DOI 10.1016/j.tranon.2023.101760, PubMed 37611490
Psychometric Properties and Diagnostic Associations of the Short-Form Community Assessment of Psychic Experiences in a Population-Based Sample of 29 021 Adult Men
Schizophr Bull, 49 (5), 1229-1238
DOI 10.1093/schbul/sbad074, PubMed 37262330
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
Eur J Hum Genet, 32 (5), 513-520
DOI 10.1038/s41431-023-01494-7, PubMed 38030917
No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
Transl Psychiatry, 13 (1), 61
DOI 10.1038/s41398-023-02358-w, PubMed 36807331
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Biol Psychiatry, 95 (2), 147-160
DOI 10.1016/j.biopsych.2023.08.018, PubMed 37661008
HLA-DQ2 is associated with anti-drug antibody formation to infliximab in patients with immune-mediated inflammatory diseases
J Intern Med, 293 (5), 648-655
DOI 10.1111/joim.13616, PubMed 36843323
The relationship between cannabis use, schizophrenia, and bipolar disorder: a genetically informed study
Lancet Psychiatry, 10 (6), 441-451
DOI 10.1016/S2215-0366(23)00143-8, PubMed 37208114
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Orphanet J Rare Dis, 18 (1), 377
DOI 10.1186/s13023-023-02982-1, PubMed 38042867
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha
J Endocr Soc, 7 (8), bvad089
DOI 10.1210/jendso/bvad089, PubMed 37469961
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
Am J Hum Genet, 110 (7), 1200-1206
DOI 10.1016/j.ajhg.2023.05.010, PubMed 37311464
Claudin-10 is a new candidate prognostic marker in metastatic high-grade serous carcinoma
Virchows Arch, 482 (6), 975-982
DOI 10.1007/s00428-023-03541-6, PubMed 37067588
Capturing the SARS-CoV-2 infection pyramid within the municipality of Rotterdam using longitudinal sewage surveillance
Sci Total Environ, 883, 163599
DOI 10.1016/j.scitotenv.2023.163599, PubMed 37100150
EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance
Mol Cancer, 22 (1), 158
DOI 10.1186/s12943-023-01861-4, PubMed 37777742
The microbiota of uterine biopsies, cytobrush and vaginal swabs at artificial insemination in Norwegian red cows
Theriogenology, 209, 115-125
DOI 10.1016/j.theriogenology.2023.06.024, PubMed 37390751
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors
Am J Psychiatry, 180 (10), 723-738
DOI 10.1176/appi.ajp.21121266, PubMed 37777856
Gene expression profiling of subcutaneous adipose tissue reveals new biomarkers in acromegaly
Eur J Endocrinol, 188 (3)
DOI 10.1093/ejendo/lvad031, PubMed 36895180
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Eur J Hum Genet, 31 (5), 578-587
DOI 10.1038/s41431-022-01257-w, PubMed 36707629
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers (Basel), 15 (13)
DOI 10.3390/cancers15133313, PubMed 37444426
Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system
Neurobiol Dis, 183, 106174
DOI 10.1016/j.nbd.2023.106174, PubMed 37286172
OnTarget: in silico design of MiniPromoters for targeted delivery of expression
Nucleic Acids Res, 51 (W1), W379-W386
DOI 10.1093/nar/gkad375, PubMed 37166953
Comparison between articular chondrocytes and mesenchymal stromal cells for the production of articular cartilage implants
Front Bioeng Biotechnol, 11, 1116513
DOI 10.3389/fbioe.2023.1116513, PubMed 36896010
A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation
Sci Signal, 16 (771), eadd0509
DOI 10.1126/scisignal.add0509, PubMed 36749824
Nucleated red blood cells explain most of the association between DNA methylation and gestational age
Commun Biol, 6 (1), 224
DOI 10.1038/s42003-023-04584-w, PubMed 36849614
Spatial cumulant models enable spatially informed treatment strategies and analysis of local interactions in cancer systems
J Math Biol, 86 (5), 68
DOI 10.1007/s00285-023-01903-x, PubMed 37017776
Multimodal human thymic profiling reveals trajectories and cellular milieu for T agonist selection
Front Immunol, 13, 1092028
DOI 10.3389/fimmu.2022.1092028, PubMed 36741401
Human thymic putative CD8αα precursors exhibit a biased TCR repertoire in single cell AIRR-seq
Sci Rep, 13 (1), 17714
DOI 10.1038/s41598-023-44693-4, PubMed 37853083
Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders
Psychoneuroendocrinology, 157, 106368
DOI 10.1016/j.psyneuen.2023.106368, PubMed 37659117
Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy
Nat Hum Behav, 7 (9), 1584-1600
DOI 10.1038/s41562-023-01630-9, PubMed 37365406
Impulsivity across severe mental disorders: a cross-sectional study of immune markers and psychopharmacotherapy
BMC Psychiatry, 23 (1), 659
DOI 10.1186/s12888-023-05154-4, PubMed 37674162
Genome-wide analyses reveal shared genetic architecture and novel risk loci between opioid use disorder and general cognitive ability
Drug Alcohol Depend, 256, 111058
DOI 10.1016/j.drugalcdep.2023.111058, PubMed 38244365
Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression
Addict Biol, 28 (6), e13282
DOI 10.1111/adb.13282, PubMed 37252880
Bidirectional genetic overlap between autism spectrum disorder and cognitive traits
Transl Psychiatry, 13 (1), 295
DOI 10.1038/s41398-023-02563-7, PubMed 37709755
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
Genes (Basel), 14 (2)
DOI 10.3390/genes14020262, PubMed 36833189
Circulating tumour DNA alterations: emerging biomarker in head and neck squamous cell carcinoma
J Biomed Sci, 30 (1), 65
DOI 10.1186/s12929-023-00953-z, PubMed 37559138
A comparison between mutational profiles in tumour tissue DNA and circulating tumour DNA in head and neck squamous cell carcinoma - A systematic review
Mutat Res Rev Mutat Res, 793, 108477
DOI 10.1016/j.mrrev.2023.108477, PubMed 37977279
Rise and fall of SARS-CoV-2 variants in Rotterdam: Comparison of wastewater and clinical surveillance
Sci Total Environ, 873, 162209
DOI 10.1016/j.scitotenv.2023.162209, PubMed 36796689
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
NPJ Genom Med, 8 (1), 39
DOI 10.1038/s41525-023-00380-x, PubMed 37993442
Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci
Schizophr Bull, 49 (6), 1654-1664
DOI 10.1093/schbul/sbad063, PubMed 37163672
Associations Between Symptoms of Premenstrual Disorders and Polygenic Liability for Major Psychiatric Disorders
JAMA Psychiatry, 80 (7), 738-742
DOI 10.1001/jamapsychiatry.2023.1137, PubMed 37163253
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270
Elevated Systemic Levels of Markers Reflecting Intestinal Barrier Dysfunction and Inflammasome Activation Are Correlated in Severe Mental Illness
Schizophr Bull, 49 (3), 635-645
DOI 10.1093/schbul/sbac191, PubMed 36462169
Human cytomegalovirus infection perturbs neural progenitor cell fate via the expression of viral microRNAs
J Med Virol, 95 (2), e28574
DOI 10.1002/jmv.28574, PubMed 36772841
Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management
Laryngoscope Investig Otolaryngol, 9 (1), e1196
DOI 10.1002/lio2.1196, PubMed 38362186
Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders
Brain, 146 (8), 3392-3403
DOI 10.1093/brain/awad038, PubMed 36757824
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
Nat Hum Behav, 7 (6), 1001-1017
DOI 10.1038/s41562-023-01541-9, PubMed 36864136
Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants
Am J Psychiatry, 180 (9), 685-698
DOI 10.1176/appi.ajp.20220304, PubMed 37434504
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol, 102 (5), 590-599
DOI 10.1111/aos.16615, PubMed 38131258
Nasal responses to elevated temperature and Francisella noatunensis infection in Atlantic cod (Gadus morhua)
Genomics, 115 (6), 110735
DOI 10.1016/j.ygeno.2023.110735, PubMed 37898334
Comparative basal transcriptome profiles of the olfactory rosette and gills of Atlantic salmon (Salmo salar) unveil shared and distinct immunological features
Genomics, 115 (3), 110632
DOI 10.1016/j.ygeno.2023.110632, PubMed 37127252
Increased ferroptosis in leukocytes from preeclamptic women involving the long non-coding taurine upregulated gene 1 (TUG1)
J Intern Med, 295 (2), 181-195
DOI 10.1111/joim.13732, PubMed 37870937
Platelet and mitochondrial RNA is decreased in plasma-derived extracellular vesicles in women with preeclampsia-an exploratory study
BMC Med, 21 (1), 458
DOI 10.1186/s12916-023-03178-x, PubMed 37996819
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
J Med Genet, 60 (12), 1186-1197
DOI 10.1136/jmg-2023-109185, PubMed 37451831
Analysis of Spatial Molecular Data
Methods Mol Biol, 2614, 349-356
DOI 10.1007/978-1-0716-2914-7_20, PubMed 36587134
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Brain, 146 (3), 912-922
DOI 10.1093/brain/awac488, PubMed 36542484
MicroRNA-143-5p Suppresses ER-Positive Breast Cancer Development by Targeting Oncogenic HMGA2
Clin Breast Cancer, 23 (7), e480-e490.e3
DOI 10.1016/j.clbc.2023.07.011, PubMed 37596147
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis
Br J Cancer, 130 (2), 269-274
DOI 10.1038/s41416-023-02503-8, PubMed 38030749
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928
Telomere length and verbal learning in bipolar disorders
J Affect Disord, 339, 555-560
DOI 10.1016/j.jad.2023.07.087, PubMed 37459977
MRI Assessment of Changes in Tumor Vascularization during Neoadjuvant Anti-Angiogenic Treatment in Locally Advanced Breast Cancer Patients
Cancers (Basel), 15 (18)
DOI 10.3390/cancers15184662, PubMed 37760629
The impact of coding germline variants on contralateral breast cancer risk and survival
Am J Hum Genet, 110 (3), 475-486
DOI 10.1016/j.ajhg.2023.02.003, PubMed 36827971
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Cancer Med, 12 (15), 16142-16162
DOI 10.1002/cam4.6272, PubMed 37401034
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Med, 15 (1), 7
DOI 10.1186/s13073-022-01152-5, PubMed 36703164
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
NPJ Breast Cancer, 9 (1), 37
DOI 10.1038/s41523-023-00546-x, PubMed 37173335
High-throughput screen in vitro identifies dasatinib as a candidate for combinatorial treatment with HER2-targeting drugs in breast cancer
PLoS One, 18 (1), e0280507
DOI 10.1371/journal.pone.0280507, PubMed 36706086
Polygenic overlap with body-mass index improves prediction of treatment-resistant schizophrenia
Psychiatry Res, 325, 115217
DOI 10.1016/j.psychres.2023.115217, PubMed 37146461
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Nat Commun, 14 (1), 3453
DOI 10.1038/s41467-023-38951-2, PubMed 37301908
No impact of prenatal paracetamol and folic acid exposure on cord blood DNA methylation in children with attention-deficit/hyperactivity disorder
Front Genet, 14, 1204879
DOI 10.3389/fgene.2023.1204879, PubMed 37396039
Effects of prenatal exposure to (es)citalopram and maternal depression during pregnancy on DNA methylation and child neurodevelopment
Transl Psychiatry, 13 (1), 149
DOI 10.1038/s41398-023-02441-2, PubMed 37147306
Transcriptional and functional effects of lithium in bipolar disorder iPSC-derived cortical spheroids
Mol Psychiatry, 28 (7), 3033-3043
DOI 10.1038/s41380-023-01944-0, PubMed 36653674
Genetic Overlap Between Global Cortical Brain Structure, C-Reactive Protein, and White Blood Cell Counts
Biol Psychiatry, 95 (1), 62-71
DOI 10.1016/j.biopsych.2023.06.008, PubMed 37348803
Psychiatric disorders and brain white matter exhibit genetic overlap implicating developmental and neural cell biology
Mol Psychiatry, 28 (11), 4924-4932
DOI 10.1038/s41380-023-02264-z, PubMed 37759039
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet
Epilepsia Open, 8 (3), 858-866
DOI 10.1002/epi4.12746, PubMed 37057954
Alpha-B-Crystallin overexpression is sufficient to promote tumorigenesis and metastasis in mice
Exp Hematol Oncol, 12 (1), 4
DOI 10.1186/s40164-022-00365-z, PubMed 36624493
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature
Mol Genet Genomic Med, 11 (6), e2157
DOI 10.1002/mgg3.2157, PubMed 36860143
The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?
Hum Genomics, 17 (1), 35
DOI 10.1186/s40246-023-00484-6, PubMed 37085889
Fipronil affects cockroach behavior and olfactory memory
J Exp Biol, 226 (8)
DOI 10.1242/jeb.245239, PubMed 36970762
Small extracellular vesicles have distinct CD81 and CD9 tetraspanin expression profiles in plasma from rheumatoid arthritis patients
Clin Exp Med, 23 (6), 2867-2875
DOI 10.1007/s10238-023-01024-1, PubMed 36826611
Characterizing the Shared Genetic Underpinnings of Schizophrenia and Cardiovascular Disease Risk Factors
Am J Psychiatry, 180 (11), 815-826
DOI 10.1176/appi.ajp.20220660, PubMed 37752828
LDL cholesterol targets rarely achieved in familial hypercholesterolemia patients: A sex and gender-specific analysis
Atherosclerosis, 384, 117117
DOI 10.1016/j.atherosclerosis.2023.03.022, PubMed 37080805
Functional and molecular characterization of the Atlantic salmon gill epithelium cell line ASG-10; a tool for in vitro gill research
Front Mol Biosci, 10, 1242879
DOI 10.3389/fmolb.2023.1242879, PubMed 37916189
Multi-omics approach reveals dysregulated genes during hESCs neuronal differentiation exposure to paracetamol
iScience, 26 (10), 107755
DOI 10.1016/j.isci.2023.107755, PubMed 37731623
Shared Genetic Loci Between Schizophrenia and White Blood Cell Counts Suggest Genetically Determined Systemic Immune Abnormalities
Schizophr Bull, 49 (5), 1345-1354
DOI 10.1093/schbul/sbad082, PubMed 37319439
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
J Clin Lipidol, 17 (6), 800-807
DOI 10.1016/j.jacl.2023.08.009, PubMed 37718180
Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia
J Clin Lipidol, 18 (1), e80-e89
DOI 10.1016/j.jacl.2023.11.002, PubMed 37981531
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay
J Lipid Res, 65 (1), 100482
DOI 10.1016/j.jlr.2023.100482, PubMed 38052254
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis
Genome Med, 15 (1), 60
DOI 10.1186/s13073-023-01212-4, PubMed 37528461
Early response evaluation by single cell signaling profiling in acute myeloid leukemia
Nat Commun, 14 (1), 115
DOI 10.1038/s41467-022-35624-4, PubMed 36611026
Patients with schizophrenia and bipolar disorder display a similar global gene expression signature in whole blood that reflects elevated proportion of immature neutrophil cells with association to lipid changes
Transl Psychiatry, 13 (1), 147
DOI 10.1038/s41398-023-02442-1, PubMed 37147304
Loss of Cardiac Splicing Regulator RBM20 Is Associated With Early-Onset Atrial Fibrillation
JACC Basic Transl Sci, 9 (2), 163-180
DOI 10.1016/j.jacbts.2023.08.008, PubMed 38510713
High-resolution alignment of single-cell and spatial transcriptomes with CytoSPACE
Nat Biotechnol, 41 (11), 1543-1548
DOI 10.1038/s41587-023-01697-9, PubMed 36879008
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010
Two-locus identity coefficients in pedigrees
G3 (Bethesda), 13 (2)
DOI 10.1093/g3journal/jkac326, PubMed 36525359
Long-Term Use of Amoxicillin Is Associated with Changes in Gene Expression and DNA Methylation in Patients with Low Back Pain and Modic Changes
Antibiotics (Basel), 12 (7)
DOI 10.3390/antibiotics12071217, PubMed 37508313
Increased muscle activity during sleep and more RBD symptoms in H1N1-(Pandemrix)-vaccinated narcolepsy type 1 patients compared with their non-narcoleptic siblings
Sleep, 46 (3)
DOI 10.1093/sleep/zsac316, PubMed 36562330
Transcriptomic pan-cancer analysis using rank-based Bayesian inference
Mol Oncol, 17 (4), 548-563
DOI 10.1002/1878-0261.13354, PubMed 36562628
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nat Genet, 55 (12), 2065-2074
DOI 10.1038/s41588-023-01534-4, PubMed 37945903
SOX2 downregulation of PML increases HCMV gene expression and growth of glioma cells
PLoS Pathog, 19 (4), e1011316
DOI 10.1371/journal.ppat.1011316, PubMed 37058447
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Brain Spine, 3, 101745
DOI 10.1016/j.bas.2023.101745, PubMed 37383439
The impact of placental genomic risk for schizophrenia and birth asphyxia on brain development
Transl Psychiatry, 13 (1), 343
DOI 10.1038/s41398-023-02639-4, PubMed 37938559
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2
Hum Mutat, 2023
DOI 10.1155/2023/9961341, PubMed 38725546
Antidepressants escitalopram and venlafaxine up-regulate BDNF promoter IV but down-regulate neurite outgrowth in differentiating SH-SY5Y neurons
Neurochem Int, 169, 105571
DOI 10.1016/j.neuint.2023.105571, PubMed 37451345
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
PLoS One, 18 (12), e0294764
DOI 10.1371/journal.pone.0294764, PubMed 38039300
Maternal prenatal cholesterol levels predict offspring weight trajectories during childhood in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 21 (1), 43
DOI 10.1186/s12916-023-02742-9, PubMed 36747215
Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders
Sci Rep, 13 (1), 13845
DOI 10.1038/s41598-023-40310-6, PubMed 37620394