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39

XunZi, an AI biologist, reveals disease-modifying targets

Xinhe HuangJunhong QinFei TangChenyu YangLinhua Xu18
Nature Biomedical Engineering
2026
2026/8/4
00 p.1-19
Hypothesis generation in biomedicine is constrained by human cognitive limitations in synthesizing insights from fragmented biomedical knowledge and multimodal data sources. Here we introduce XunZi, an AI biologist that integrates logical reasoning and multimodal data fusion to autonomously generate...
Data integrationParkinson's disease
10.1038/S41551-026-01769-6
ISSN:2157-846X

Neuroligin-mediated neurodevelopmental defects are induced by mitochondrial dysfunction and prevented by lutein in C. elegans

Maglioni SilviaSchiavi AlfonsoMelcher MarlenBrinkmann VanessaLuo Zhongrui10
Nature Communications
2022
2022/5/12
Vol.13 No.1 p.1-21
Complex-I-deficiency represents the most frequent pathogenetic cause of human mitochondriopathies. Therapeutic options for these neurodevelopmental life-threating disorders do not exist, partly due to the scarcity of appropriate model systems to study them. Caenorhabditis elegans is a genetically tr...
Animal disease modelsCellular neuroscienceDevelopmental neurogenesisMechanisms of diseaseMitochondria
10.1038/S41467-022-29972-4
ISSN:2041-1723

Accelerating functional gene discovery in osteoarthritis

Natalie C. ButterfieldKatherine F. CurryJulia SteinbergHannah DewhurstDavide Komla-Ebri27
Nature Communications
2021
2021/1/20
Vol.12 No.1 p.1-18
Osteoarthritis causes debilitating pain and disability, resulting in a considerable socioeconomic burden, yet no drugs are available that prevent disease onset or progression. Here, we develop, validate and use rapid-throughput imaging techniques to identify abnormal joint phenotypes in randomly sel...
BoneCartilage
10.1038/S41467-020-20761-5
ISSN:2041-1723

Role of maternal milk in providing a healthy intestinal microbiome for the preterm neonate

Ana Catarina de Castro NatalRalciane de Paula MenezesDenise Von Dolinger de Brito Röder
Pediatric Research
2024
2024/12/11
00 p.1-8
The immature gastrointestinal tract of preterm neonates leads to a delayed and distinctive establishment of the gut microbiome, making them susceptible to potentially pathogenic bacteria and increasing the risk of infections. Maternal milk, recognized as the optimal source of nutrition, plays a mult...
Medicine/Public Health, generalPediatricsPediatric Surgery
10.1038/S41390-024-03751-X
ISSN:0031-3998

Population attributable fractions of a wide range of peripheral diseases for the burden of dementia

Zhenhong DengYuxin YangQueran LinSonghua XiaoYou Zuo14
Nature Human Behaviour
2026
2026/1/20
00 p.1-19
Growing evidence suggests that peripheral diseases serve as risk factors for dementia, but the population-level burden of dementia associated with various peripheral diseases has remained unknown. Here, by conducting a systematic review and Bayesian meta-analyses to estimate the relative risks of 26...
Alzheimer's diseaseEpidemiologyGeriatricsPublic healthRisk factors
10.1038/S41562-025-02392-2
ISSN:2397-3374

Going beyond established model systems of Alzheimer’s disease: companion animals provide novel insights into the neurobiology of aging

Alexandra A. de SousaBrier A. Rigby DamesEmily C. GraffRania MohamedelhassanTatianna Vassilopoulos6
Communications Biology
2023
2023/6/21
Vol.6 No.1 p.1-16
Alzheimer’s disease (AD) is characterized by brain plaques, tangles, and cognitive impairment. AD is one of the most common age-related dementias in humans. Progress in characterizing AD and other age-related disorders is hindered by a perceived dearth of animal models that naturally reproduce disea...
Cognitive ageingNeural ageing
10.1038/S42003-023-05034-3
ISSN:2399-3642

Machine learning and medical education

Vijaya B. KolachalamaPriya S. Garg
Npj Digital Medicine
2018
2018/9/27
Vol.1 No.1 p.1-3
Artificial intelligence (AI) driven by machine learning (ML) algorithms is a branch in computer science that is rapidly gaining popularity within the healthcare sector. Recent regulatory approvals of AI-driven companion diagnostics and other products are glimmers of a future in which these tools cou...
EducationTranslational research
10.1038/S41746-018-0061-1
ISSN:2398-6352

Mechanistic insights into the alterations and regulation of the AKT signaling pathway in diabetic retinopathy

Jiayuan LiKuangqi ChenXiang LiXuhong ZhangLiyue Zhang11
Cell Death Discovery
2023
2023/11/17
Vol.9 No.1 p.1-15
In the early stages of diabetic retinopathy (DR), diabetes-related hyperglycemia directly inhibits the AKT signaling pathway by increasing oxidative stress or inhibiting growth factor expression, which leads to retinal cell apoptosis, nerve proliferation and fundus microvascular disease. However, du...
BiomarkersCell biologyRetinal diseases
10.1038/S41420-023-01717-2
ISSN:2058-7716

COSMIN review of the PANSS Marder factor solution and other factor models in people with schizophrenia

Maximilian RoithmeierSimon GeckMarkus BühnerSophia WehrLucia Weigel8
Schizophrenia
2025
2025/3/31
Vol.11 No.1 p.1-14
The Positive and Negative Syndrome Scale (PANSS) is widely used to assess schizophrenia symptoms. Initially designed with three subscales, Marder et al.´s 5-factor-Model (M5M) first proposed in 1997 has been frequently used in treatment trials, but it has never been systematically reviewed for its m...
PsychosisSchizophrenia
10.1038/S41537-025-00600-6
ISSN:2754-6993

Synthesis and systematic review of reported neonatal SARS-CoV-2 infections

Roberto RaschettiAlexandre J. VivantiChristelle Vauloup-FellousBarbara LoiAlexandra Benachi6
Nature Communications
2020
2020/10/15
Vol.11 No.1 p.1-10
A number of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infections have been reported in neonates. Here, we aim to clarify the transmission route, clinical features and outcomes of these infections. We present a meta-analysis of 176 published cases of neonatal SARS-CoV-2 infections ...
EpidemiologyPaediatric research
10.1038/S41467-020-18982-9
ISSN:2041-1723

Inverse electron demand Diels–Alder click chemistry for pretargeted PET imaging and radioimmunotherapy

Samantha M. SarrettOuti KeinänenEric J. DaytsGuillaume Dewaele-Le RoiCindy Rodriguez7
Nature Protocols
2021
2021/6/14
00 p.1-34
Radiolabeled antibodies have shown promise as tools for both the nuclear imaging and endoradiotherapy of cancer, but the protracted circulation time of radioimmunoconjugates can lead to high radiation doses to healthy tissues. To circumvent this issue, we have developed an approach to positron emiss...
Cancer imagingMolecular medicine
10.1038/S41596-021-00540-2
ISSN:1754-2189

Two decades of neuroscience publication trends in Africa

M. B. MainaU. AhmadH. A. IbrahimS. K. HamiduF. E. Nasr22
Nature Communications
2021
2021/6/8
Vol.12 No.1 p.1-10
Neuroscience research in Africa remains sparse. Devising new policies to boost Africa’s neuroscience landscape is imperative, but these must be based on accurate data on research outputs which is largely lacking. Such data must reflect the heterogeneity of research environments across the continent’...
FundingNeurosciencePublishingScientific community
10.1038/S41467-021-23784-8
ISSN:2041-1723

Coronavirus sampling and surveillance in bats from 1996–2019: a systematic review and meta-analysis

Lily E. CohenAnna C. FagreBinqi ChenColin J. CarlsonDaniel J. Becker
Nature Microbiology
2023
2023/5/25
00 p.1-11
The emergence of SARS-CoV-2 highlights a need for evidence-based strategies to monitor bat viruses. We performed a systematic review of coronavirus sampling (testing for RNA positivity) in bats globally. We identified 110 studies published between 2005 and 2020 that collectively reported positivity ...
Data miningEcological epidemiologyViral reservoirs
10.1038/S41564-023-01375-1
ISSN:2058-5276

A cross-sectional epidemiological study of non-suicidal self-injury prevalence in Chinese psychiatric patients

Zhang PeiOuyang LichenLiang MinluWu YunBao Chenxi20
Nature Mental Health
2023
2023/4/18
Vol.1 No.4 p.266-272
Non-suicidal self-injury (NSSI) is a common behaviour among psychiatric patients that is easily overlooked and often brings serious consequences. The current literature is limited to certain groups and uses different diagnostic criteria. Here our aim was to investigate the prevalence of NSSI in psyc...
Psychiatric disordersPublic health
10.1038/S44220-023-00050-Y
ISSN:2731-6076

A systematic review of the impacts of post-harvest handling on provitamin A, iron and zinc retention in seven biofortified crops

Samantha L. HueyElsa M. KonieczynskiNeel H. MehtaJesse T. KrisherArini Bhargava10
Nature Food
2023
2023/11/9
00 p.1-8
Post-harvest handling can affect micronutrient retention in biofortified crops through to the point of consumption. Here we conduct a systematic review identifying 67 articles examining the retention of micronutrients in conventionally bred biofortified maize, orange sweet potato, cassava, pearl mil...
AgricultureDeveloping worldPlant sciences
10.1038/S43016-023-00874-Y
ISSN:2662-1355

Applying analytics to sociodemographic disparities in mental health

Aaron BairdYusen Xia
Nature Mental Health
2025
2025/1/8
Vol.3 No.1 p.124-138
Mental health services and treatment are unfortunately subject to sociodemographic disparities. To address this issue, recent studies have begun to apply analytics methods—that is, artificial intelligence in general, machine learning and deep learning in particular—toward the identification of such ...
Health servicesSocial sciences
10.1038/S44220-024-00359-2
ISSN:2731-6076

How should we report the foveal status in eyes with “macula-off” retinal detachment?

Klaas Julian E.Siedlecki JakobSteel David H.Laidlaw D. Alistair H.Priglinger Siegfried
Eye
2022
2022/5/3
00 p.1-7
Whilst pre- and postoperative multimodal imaging technologies including optical coherence tomography (OCT) have investigated the morphological correlates of worsened visual outcomes in rhegmatogenous retinal detachment (RRD) with foveal involvement, the nomenclature has adhered to the traditional op...
Predictive markersRetinal diseases
10.1038/S41433-022-02074-7
ISSN:0950-222X

A generalist vision–language foundation model for diverse biomedical tasks

Kai ZhangRong ZhouEashan AdhikarlaZhiling YanYixin Liu23
Nature Medicine
2024
2024/8/7
00 p.1-13
Traditional biomedical artificial intelligence (AI) models, designed for specific tasks or modalities, often exhibit limited flexibility in real-world deployment and struggle to utilize holistic information. Generalist AI holds the potential to address these limitations due to its versatility in int...
DiagnosisHealth servicesMedical imaging
10.1038/S41591-024-03185-2
ISSN:1078-8956

Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease

Alexander T. WilliamsJing ChenKayesha ColeyChiara BatiniAbril Izquierdo32
Nature Communications
2023
2023/10/23
Vol.14 No.1 p.1-14
Thyroid hormones play a critical role in regulation of multiple physiological functions and thyroid dysfunction is associated with substantial morbidity. Here, we use electronic health records to undertake a genome-wide association study of thyroid-stimulating hormone (TSH) levels, with a total samp...
Genetics researchGenome-wide association studiesThyroid diseases
10.1038/S41467-023-42284-5
ISSN:2041-1723

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

Alexander J. M. DingemansSandra JansenJeroen van ReeuwijkNicole de LeeuwRolph Pfundt18
Nature Medicine
2024
2024/5/14
00 p.1-10
The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of NDD syndromes. We thus developed PhenomAD-NDD, an aggregated da...
Clinical geneticsNeurodevelopmental disorders
10.1038/S41591-024-03005-7
ISSN:1078-8956

DeepPrep: an accelerated, scalable and robust pipeline for neuroimaging preprocessing empowered by deep learning

Jianxun RenNing AnCong LinYoujia ZhangZhenyu Sun17
Nature Methods
2025
2025/2/6
Vol.22 No.3 p.473-476
Neuroimaging has entered the era of big data. However, the advancement of preprocessing pipelines falls behind the rapid expansion of data volume, causing substantial computational challenges. Here we present DeepPrep, a pipeline empowered by deep learning and a workflow manager. Evaluated on over 5...
Computational platforms and environmentsMachine learningMagnetic resonance imagingNeuroscienceSoftware
10.1038/S41592-025-02599-1
ISSN:1548-7091

A systematic review and meta-analysis of 90 cohort studies of social isolation, loneliness and mortality

Fan WangYu GaoZhen HanYue YuZhiping Long12
Nature Human Behaviour
2023
2023/6/19
00 p.1-13
The associations between social isolation, loneliness and the risk of mortality from all causes, cardiovascular disease (CVD) and cancer are controversial. We systematically reviewed prospective studies on the association between social isolation, loneliness and mortality outcomes in adults aged 18 ...
Medical humanitiesSociology
10.1038/S41562-023-01617-6
ISSN:2397-3374

Neuroimaging biomarkers of addiction

Hamed EkhtiariArshiya SangchooliOwen CarmichaelF. Gerard MoellerPatricio O’Donnell13
Nature Mental Health
2024
2024/11/18
00 p.1-20
As a neurobiological process, addiction involves pathological patterns of engagement with substances and a range of behaviors with a chronic and relapsing course. Neuroimaging technologies assess brain activity, structure, physiology, and metabolism at scales ranging from neurotransmitter receptors ...
BiomarkersCognitive neuroscienceNeuroscience
10.1038/S44220-024-00334-X
ISSN:2731-6076

Synapse type-specific proteomic dissection identifies IgSF8 as a hippocampal CA3 microcircuit organizer

Nuno ApóstoloSamuel N. SmukowskiJeroen VanderlindenGiuseppe CondomittiVasily Rybakin14
Nature Communications
2020
2020/10/14
Vol.11 No.1 p.1-21
Excitatory and inhibitory neurons are connected into microcircuits that generate circuit output. Central in the hippocampal CA3 microcircuit is the mossy fiber (MF) synapse, which provides powerful direct excitatory input and indirect feedforward inhibition to CA3 pyramidal neurons. Here, we dissect...
Cellular neuroscienceDevelopment of the nervous systemMolecular neuroscienceNeural circuitsSynaptic development
10.1038/S41467-020-18956-X
ISSN:2041-1723

Lack of consideration of sex and gender in COVID-19 clinical studies

Emer BradyMathias Wullum NielsenJens Peter AndersenSabine Oertelt-Prigione
Nature Communications
2021
2021/7/6
Vol.12 No.1 p.1-6
Sex and gender differences impact the incidence of SARS-CoV-2 infection and COVID-19 mortality. Furthermore, sex differences influence the frequency and severity of pharmacological side effects. A large number of clinical trials to develop new therapeutic approaches and vaccines for COVID-19 are ong...
Clinical trialsEpidemiologyHealth policyRisk factors
10.1038/S41467-021-24265-8
ISSN:2041-1723

Genetic architecture of plasma metabolome in 254,825 individuals

Yi-Xuan QiangYi-Xuan WangXiao-Yu HeYue-Ting DengYi-Jun Ge10
Nature Communications
2025
2025/9/19
Vol.16 No.1 p.1-17
Circulating metabolites are crucial to biological processes underlying health and diseases, yet their genetic determinants remain incompletely understood. Here, we investigate the genetic architecture of nuclear magnetic resonance-based metabolomics, analyzing 249 metabolic measures and 64 biologica...
Genome-wide association studiesMetabolomics
10.1038/S41467-025-62126-W
ISSN:2041-1723

Divergent biological pathways linking short and long sleep durations to mental and physical health

Yuzhu LiWeikang GongBarbara J. SahakianShuyi HuangWei Zhang12
Nature Mental Health
2025
2025/3/3
00 p.1-15
Short and long sleep durations are associated with multiple physical, psychiatric and neurodegenerative diseases, yet their potentially shared and distinct biological mechanisms remain unclear. Here, using data from UK Biobank participants aged 38–73 years, we have characterized the in-depth genetic...
Genetic association studyPsychiatric disordersSleep
10.1038/S44220-025-00395-6
ISSN:2731-6076

Integration of machine learning and experimental validation reveals new lipid-lowering drug candidates

Jing-hong ChenKe-xin LiChao-fan FanHong YangZhi-rou Zhang11
Acta Pharmacologica Sinica
2025
2025/4/15
00 p.1-17
Hyperlipidemia, a major risk factor for cardiovascular diseases, is associated with limitations in clinical lipid-lowering medications. Drug repurposing strategies expedite the research process and mitigate development costs, offering an innovative approach to drug discovery. This study employed sys...
Biomedicine, generalPharmacology/ToxicologyMedical MicrobiologyImmunologyInternal MedicineVaccine
10.1038/S41401-025-01539-1
ISSN:1671-4083

Growing prominence of deep-sea life in marine bioprospecting

Erik ZhivkopliasJean-Baptiste JouffrayPaul DunshirnAgnes PraninditaRobert Blasiak
Nature Sustainability
2024
2024/8/8
00 p.1-11
Marine bioprospecting, which involves the exploration of genetic and biochemical material from marine organisms, can be used towards addressing a broad range of public and environmental health applications such as disease treatment, diagnostics and bioremediation. Marine genetic resources are import...
BiotechnologyBusiness and industryConservation biology
10.1038/S41893-024-01392-W
ISSN:2398-9629

Global surveillance of antimicrobial resistance in food animals using priority drugs maps

Cheng ZhaoYu WangRanya MulchandaniThomas P. Van Boeckel
Nature Communications
2024
2024/1/26
Vol.15 No.1 p.1-10
Antimicrobial resistance (AMR) in food animals is a growing threat to animal health and potentially to human health. In resource-limited settings, allocating resources to address AMR can be guided with maps. Here, we mapped AMR prevalence in 7 antimicrobials in Escherichia coli and nontyphoidal Salm...
Antimicrobial resistanceEcological epidemiologyEpidemiologyGeographyHealth policy
10.1038/S41467-024-45111-7
ISSN:2041-1723

The role of Motin family proteins in tumorigenesis—an update

Amirifar ParisaKissil Joseph
Oncogene
2023
2023/3/27
00 p.1-7
The Motin protein family consists of three members: AMOT (p80 and p130 isoforms), AMOT-like protein 1 (AMOTL1), and AMOT-like protein 2 (AMOTL2). The family members play an important role in processes such as cell proliferation, migration, angiogenesis, tight junction formation, and cell polarity. T...
Mechanisms of diseaseRHO signalling
10.1038/S41388-023-02677-8
ISSN:0950-9232

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. GoodrichMoriel Singer-BerkRachel SonAbigail SvedenJordan Wood130
Nature Communications
2021
2021/6/9
Vol.12 No.1 p.1-15
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncert...
Endocrine system and metabolic diseasesMedical genomicsMolecular medicine
10.1038/S41467-021-23556-4
ISSN:2041-1723

A systematic review with a Burden of Proof meta-analysis of health effects of long-term ambient fine particulate matter (PM2.5) exposure on dementia

Xinmei HuangJaimie SteinmetzElizabeth K. MarshAleksandr Y. AravkinCharlie Ashbaugh16
Nature Aging
2025
2025/3/21
00 p.1-12
Previous studies have indicated increased dementia risk associated with fine particulate matter (PM2.5) exposure; however, the findings are inconsistent. In this systematic review, we assessed the association between long-term PM2.5 exposure and dementia outcomes using the Burden of Proof meta-analy...
AgeingAlzheimer's diseaseDementia
10.1038/S43587-025-00844-Y
ISSN:2662-8465

A collaborative realist review of remote measurement technologies for depression in young people

Annabel E. L. WalshGeorgia NaughtonThomas SharpeZuzanna ZajkowskaMantas Malys7
Nature Human Behaviour
2024
2024/1/15
00 p.1-13
Digital mental health is becoming increasingly common. This includes use of smartphones and wearables to collect data in real time during day-to-day life (remote measurement technologies, RMT). Such data could capture changes relevant to depression for use in objective screening, symptom management ...
DepressionHuman behaviourPredictive markers
10.1038/S41562-023-01793-5
ISSN:2397-3374

Health effects associated with consumption of processed meat, sugar-sweetened beverages and trans fatty acids: a Burden of Proof study

Demewoz HaileKassandra L. HardingSusan A. McLaughlinCharlie AshbaughVanessa Garcia15
Nature Medicine
2025
2025/6/30
00 p.1-11
Previous research suggests detrimental health effects associated with consuming processed foods, including processed meats, sugar-sweetened beverages (SSBs) and trans fatty acids (TFAs). However, systematic characterization of the dose–response relationships between these foods and health outcomes i...
Cancer preventionDiabetesRisk factorsVascular diseases
10.1038/S41591-025-03775-8
ISSN:1078-8956

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Angela WeiRichard BorderBoyang FuSinéad CullinaNadav Brandes12
Nature Communications
2025
2025/6/5
Vol.16 No.1 p.1-13
Over three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant effect sizes...
EpistasisGenetics researchMedical genetics
10.1038/S41467-025-60339-7
ISSN:2041-1723

The potential public health consequences of COVID-19 on malaria in Africa

Ellie Sherrard-SmithAlexandra B. HoganArran HamletOliver J. WatsonCharlie Whittaker29
Nature Medicine
2020
2020/8/7
Vol.26 No.9 p.1411-1416
The burden of malaria is heavily concentrated in sub-Saharan Africa (SSA) where cases and deaths associated with COVID-19 are rising1. In response, countries are implementing societal measures aimed at curtailing transmission of SARS-CoV-22,3. Despite these measures, the COVID-19 epidemic could stil...
Computational modelsMalariaPolicy
10.1038/S41591-020-1025-Y
ISSN:1078-8956

The systematic literature review of the karst desertification control research status and prospects

Yu ZhangZhaohui ZhangAnjun LanLi RongZhouwei Yuan
Npj Heritage Science
2025
2025/8/9
Vol.13 No.1 p.1-18
The karst desertification (KD) control is an integrated control project aimed at ecological restoration and improving human well-being in ecologically fragile karst areas. To explore the current research status and future directions of KD control, this study systematically reviewed and analyzed 3895...
Materials Science, general
10.1038/S40494-025-01968-5
ISSN:3059-3220

Identifying genomic data use with the Data Citation Explorer

Neil ByersCharles ParkerChris BeecroftT. B. K. ReddyHugh Salamon7
Scientific Data
2024
2024/11/6
Vol.11 No.1 p.1-13
Increases in sequencing capacity, combined with rapid accumulation of publications and associated data resources, have increased the complexity of maintaining associations between literature and genomic data. As the volume of literature and data have exceeded the capacity of manual curation, automat...
GenomicsResearch data
10.1038/S41597-024-04049-7
ISSN:2052-4463