Nature Search

Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

P. F. R. Little
G. Annison
B. Modell
Research15 May 1980
Nature

Volume: 285, P: 144-147
Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit

Anna Deguet
Marie-Gabrielle Vigue
Eric Jeziorski
ResearchOpen Access01 Jul 2025
Scientific Reports

Volume: 15, P: 1-11
Machine learning based approach for surface roughness prediction in precision dental prototyping

Anmol Sharma
Ravinder S. Saini
Artak Heboyan
ResearchOpen Access01 Sept 2025
Scientific Reports

Volume: 15, P: 1-16
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Inborn errors of the alternative NF-κB pathway in humans impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases

Tom Le Voyer
Audrey V. Parent
Anne Puel
ResearchOpen Access08 Nov 2023
Nature

Volume: 623, P: 803-813
Exclusion of linkage to 5qll–13 in families with schizophrenia and other psychiatric disorders

Sevilla D. Detera-Wadleigh
Lynn R. Goldin
Elliot S. Gershon
Research03 Aug 1989
Nature

Volume: 340, P: 391-393
Effect of riboflavin on red-cell metabolism of vitamin B₆

B. B. ANDERSON
M. SAARY
J. E. HORN
Research01 Dec 1976
Nature

Volume: 264, P: 574-575
Polypeptide Chains of Buffalo Haemoglobins

A. S. BALANI
J. BARNABAS
Research01 Mar 1965
Nature

Volume: 205, P: 1019-1021
Relation of Eye Dominance and Eye Closure

S. T. CHAN
K. S. F. CHANG
Research20 Feb 1960
Nature

Volume: 185, P: 539
Phorbol ester-mediated stimulation of the synthesis of mouse mammary tumour virus

S. K. Arya
Research06 Mar 1980
Nature

Volume: 284, P: 71-72
PI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells

Lucas and colleagues show that differentiating B cells switch expression of PI3Kδ to PI3Kγ and that this switch is required for optimal T cell-dependent IgG antibody production in both mice and humans.

Stephen M. Lanahan
Lucas Yang
Carrie L. Lucas
Research03 Jul 2024
Nature Immunology

Volume: 25, P: 1422-1431
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress

Mutations in the RHO GTPase CDC42 have been associated with autoinflammatory diseases. In this study, the authors investigate how two distinct mutations, which trap CDC42 in the Golgi apparatus, are specifically associated with hyperactivation of the STING pathway and the type I interferon response, as well as the induction of endoplasmic reticulum stress.

Alberto Iannuzzo
Selket Delafontaine
Jérôme Delon
ResearchOpen Access16 Nov 2024
Nature Communications

Volume: 15, P: 1-15
Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

Kohsuke Imai
Geir Slupphaug
Anne Durandy
Research07 Sept 2003
Nature Immunology

Volume: 4, P: 1023-1028
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet⁺ B cells

Patients with partial recombination-activating gene (RAG) deficiency (pRD) present variable late-onset autoimmune clinical phenotypes. Walter and colleagues identified a restricted primary B cell antigen receptor repertoire enriched for autoreactivity and clonal persistence in pRD. They described dysregulated B cell maturation with expansion of T-bet⁺ B cells revealing how RAG impacts stringency of tolerance and B cell fate in the periphery.

Krisztian Csomos
Boglarka Ujhazi
Jolan E. Walter
ResearchOpen Access28 Jul 2022
Nature Immunology

Volume: 23, P: 1256-1272
Mechanism for controlled assembly of transcriptional condensates by Aire

Sun Hur and colleagues examine the mechanism of Aire protein function underlying peripheral tissue antigen gene expression in thymic mTECs. They show that Aire condensates assemble on enhancers that are subject to intricate regulatory mechanisms, ensuring tight coordination of Aire CARD polymerization with genomic target recognition.

Yu-San Huoh
Qianxia Zhang
Sun Hur
ResearchOpen Access21 Aug 2024
Nature Immunology

Volume: 25, P: 1580-1592
Oriental freshwater mussels arose in East Gondwana and arrived to Asia on the Indian Plate and Burma Terrane

Ivan N. Bolotov
Rajeev Pasupuleti
Karl-Otto Nagel
ResearchOpen Access27 Jan 2022
Scientific Reports

Volume: 12, P: 1-26
Tuberculosis in otherwise healthy adults with inherited TNF deficiency

Human TNF is required for respiratory-burst-dependent immunity to Mycobacterium tuberculosis in macrophages but seems to be largely redundant physiologically.

Andrés A. Arias
Anna-Lena Neehus
Stéphanie Boisson-Dupuis
ResearchOpen Access28 Aug 2024
Nature

Volume: 633, P: 417-425
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Mutations that impact the function of the Arp2/3 complex are known to cause inborn errors of immunity. Here the authors describe biallelic null mutations in the ARPC5 subunit of Arp2/3 that disrupt actin function and cytokine signaling, causing infections, autoimmunity, inflammation and dysmorphisms.

Cristiane J. Nunes-Santos
HyeSun Kuehn
Sergio D. Rosenzweig
ResearchOpen Access22 Jun 2023
Nature Communications

Volume: 14, P: 1-12
Antiviral cellular therapy for enhancing T-cell reconstitution before or after hematopoietic stem cell transplantation (ACES): a two-arm, open label phase II interventional trial of pediatric patients with risk factor assessment

Viral infection is a common risk for immune-compromised individuals, particularly pediatric patients receiving hematopoietic stem cell transplants. Here the authors report a phase II trial testing adoptive transfer of third party, virus-specific T cells on the feasibility, safety, clinical responses, as well as homeostasis of antiviral immunity in the recipients.

Michael D. Keller
Patrick J. Hanley
Michael A. Pulsipher
ResearchOpen Access18 Apr 2024
Nature Communications

Volume: 15, P: 1-14
The NK cell receptor NKp46 recognizes ecto-calreticulin on ER-stressed cells

NKp46 recognizes externalized calreticulin, which translocates from the ER to the cell membrane during ER stress, indicating a danger-associated molecular pattern that eliminates ER-stressed cells.

Sumit Sen Santara
Dian-Jang Lee
Judy Lieberman
Research05 Apr 2023
Nature

Volume: 616, P: 348-356
Geology and palaeontology of Neogene strata of Pakistan

David Pilbeam
John Barry
Louis L. Jacobs
Research01 Dec 1977
Nature

Volume: 270, P: 684-689
New hominoid primates from the Siwaliks of Pakistan and their bearing on hominoid evolution

David Pilbeam
Grant E. Meyer
S. M. Ibrahim Shah
Research01 Dec 1977
Nature

Volume: 270, P: 689-695
Selective inhibition of NAALADase, which converts NAAG to glutamate, reduces ischemic brain injury

Barbara S. Slusher
James J. Vornov
Paul F. Jackson
Research01 Dec 1999
Nature Medicine

Volume: 5, P: 1396-1402
Functional Residual Capacity in Ventilated Infants and Children

Yakov Sivan
Timothy W Deakers
Christopher J L Newth
Research01 Nov 1990
Pediatric Research

Volume: 28, P: 451-454
Identification of clear taenite in meteorites as ordered FeNi

Edward R. D. Scott
Roy S. Clarke Jr
Research01 Oct 1979
Nature

Volume: 281, P: 360-362
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

THOC6 is required for TREX tetramer formation. Analysis of pathogenic THOC6 variants differentiate the conserved mRNA export functions of TREX dimers and RNA processing functions of TREX tetramers underlying THOC6 Intellectual Disability Syndrome.

Elizabeth A. Werren
Geneva R. LaForce
Ashleigh E. Schaffer
ResearchOpen Access22 Feb 2024
Nature Communications

Volume: 15, P: 1-21
An instructive role for Interleukin-7 receptor α in the development of human B-cell precursor leukemia

Activating mutations in Interleukin-7 receptor alpha (IL7Ra) have been reported in B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) but its role in leukaemogenesis is not clear. Here, the authors show that activation of IL7Ra in primary human hematopoietic progenitors initiates preleukaemia and cooperates with CDKN2A silencing to develop BCP-ALL.

Ifat Geron
Angela Maria Savino
Shai Izraeli
ResearchOpen Access03 Feb 2022
Nature Communications

Volume: 13, P: 1-12
Education and worldwide collaboration pays off

Làszlò Maròdi
Luigi D Notarangelo
Correspondence01 Apr 2007
Nature Immunology

Volume: 8, P: 323-324
Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms

J. S. Wainscoat
A. V. S. Hill
J. B. Clegg
Research06 Feb 1986
Nature

Volume: 319, P: 491-493
Permeabilities of Precambrian Onverwacht Cherts and Other Low Permeability Rocks

S. K. SANYAL
K. A. KVENVOLDEN
S. S. MARSDEN JUN.
Research30 Jul 1971
Nature

Volume: 232, P: 325-327
Properties of high-density binary mixtures and the age of the Universe from white dwarf stars

E. Garcja-Berro
M. Hernanz
R. Mpchkovitch
Research16 Jun 1988
Nature

Volume: 333, P: 642-644
Abrogation of resistance to bone marrow transplantation by induction of specific tolerance in natural killer cells?

Martin Waterfall
Lee S. Rayfield
Leslie Brent
Research18 Oct 1984
Nature

Volume: 311, P: 663-665
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease

CHAPLE disease is a lethal syndrome caused by genetic loss of the complement regulatory protein CD55. Lenardo, Ozen and their colleagues report that blockade of C5 complement activation in a small cohort of pediatric patients with CHAPLE disease reduced gastrointestinal pathology and restored their immunity and growth.

Ahmet Ozen
Nurhan Kasap
Michael J. Lenardo
Research04 Jan 2021
Nature Immunology

Volume: 22, P: 128-139
CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications

RAG2-SCID is a primary immunodeficiency caused by mutations in Recombination-activating gene 2 (RAG2). Here the authors report a RAG2 correction strategy that replaces the entire endogenous coding sequence (CDS) to maintain the endogenous spatiotemporal gene regulation and locus architecture.

Daniel Allen
Orli Knop
Ayal Hendel
ResearchOpen Access27 Oct 2023
Nature Communications

Volume: 14, P: 1-16
Determination of the Cation Distribution in the Orthopyroxene Series by the Mossbauer Effect

G. MICHAEL BANCROFT
ROGER G. BURNS
R. A. HOWIE
Research25 Mar 1967
Nature

Volume: 213, P: 1221-1223
Polymeric fullerene chains in RbC₆₀ and KC₆₀

Peter W. Stephens
G. Bortel
L. Forró
Research25 Aug 1994
Nature

Volume: 370, P: 636-639
α-Thalassemia in Negro Infants

Shlomo Friedman
Jean Atwater
Elias Schwartz
Research01 Dec 1974
Pediatric Research

Volume: 8, P: 955-959
Oxygen stoichiometry, superconductivity and normal-state properties of YBa₂Cu₃O_7–δ

R. J. Cava
B. Batlogg
D. Werder
Research01 Oct 1987
Nature

Volume: 329, P: 423-425
FOXP3 recognizes microsatellites and bridges DNA through multimerization

FOXP3 uses the forkhead domain to form a higher-order multimer after binding to T_nG repeat microsatellites.

Wenxiang Zhang
Fangwei Leng
Sun Hur
ResearchOpen Access29 Nov 2023
Nature

Volume: 624, P: 433-441
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activation and hypercytokinemia.

S. J. Tavernier
V. Athanasopoulos
F. Haerynck
ResearchOpen Access21 Oct 2019
Nature Communications

Volume: 10, P: 1-16
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

FCH domain only 1 (FCHO1) is a key molecule involved in clathrin-mediated endocytosis (CME). Here, the authors report homozygous FCHO1 mutations in individuals with variable T and B cell lymphopenia, which are associated with loss-of-function of FCHO1 and impaired formation of clathrin-coated pits in T cells.

Marcin Łyszkiewicz
Natalia Ziętara
Christoph Klein
ResearchOpen Access25 Feb 2020
Nature Communications

Volume: 11, P: 1-15
Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells

T cells are a major cell type involved in systemic lupus erythematosus (SLE). Here, the authors use promoter capture-C and ATAC-seq in human follicular T helper cells to identify SLE genes distant from GWAS loci (via 3D interaction) and validate the function of key regulatory elements and genes in vitro.

Chun Su
Matthew E. Johnson
Andrew D. Wells
ResearchOpen Access03 Jul 2020
Nature Communications

Volume: 11, P: 1-17
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

IKZF1 is a transcription factor known to regulate mammalian B-cell development. Here the authors show that IKZF1 is required for human pDC development and regulation of DC cytokine production in patients with IKZF1 haploinsufficiency, findings which are recapitulated in lenalidomide-induced IKZF1 deficiency.

Urszula Cytlak
Anastasia Resteu
Venetia Bigley
ResearchOpen Access27 Mar 2018
Nature Communications

Volume: 9, P: 1-10
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

ARPC1B is a component of the actin-related protein 2/3 complex (Arp2/3), which is required for actin filament branching. Kahret al. show that ARPC1B deficiency in humans is associated with severe multisystem disease that includes platelet abnormalities, eosinophilia, eczema and other indicators of immune disease.

Walter H. A. Kahr
Fred G. Pluthero
Aleixo M Muise
ResearchOpen Access03 Apr 2017
Nature Communications

Volume: 8, P: 1-14
New taxa of freshwater mussels (Unionidae) from a species-rich but overlooked evolutionary hotspot in Southeast Asia

Ivan N. Bolotov
Ilya V. Vikhrev
Sakboworn Tumpeesuwan
ResearchOpen Access14 Sept 2017
Scientific Reports

Volume: 7, P: 1-18
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4⁺ T cell perturbations

FOXP3 deficiency leads to dramatic loss of immune homeostasis. This multicenter collaborative group finds that loss of FOXP3 function only disrupts a few core genes, but this unmasks a degree of systemic inflammation, and it is this environment that then strongly perturbs T_reg cells.

David Zemmour
Louis-Marie Charbonnier
Christophe Benoist
Research08 Apr 2021
Nature Immunology

Volume: 22, P: 607-619
Long-term cardiovascular risk and mortality associated with uric acid to HDL-C ratio: a 20-year cohort study in adults over 40

Ying Cui
Wen Zhang
ResearchOpen Access24 Apr 2025
Scientific Reports

Volume: 15, P: 1-13
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

A20, encoded by TNFAIP3, is a negative-feedback inhibitor of NF-κB. Grey and colleagues identify natural human variants of TNFAIP3, which lower A20 activity and increase autoinflammatory responses. These alleles were inherited by descendants of Denisovans who crossed the Wallace Line to inhabit Oceania.

Nathan W. Zammit
Owen M. Siggs
Shane T. Grey
Research18 Sept 2019
Nature Immunology

Volume: 20, P: 1299-1310
Defective Monocyte Chemotaxis in Children with Down's Syndrome

O Barroeta
L Nungaray
R R Kretschmer
Research01 Apr 1983
Pediatric Research

Volume: 17, P: 292-295
A new genus and tribe of freshwater mussel (Unionidae) from Southeast Asia

Ivan N. Bolotov
John M. Pfeiffer
Than Win
ResearchOpen Access03 Jul 2018
Scientific Reports

Volume: 8, P: 1-12
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic diagnosis and highlight the challenges of interpreting findings for genetically heterogeneous disorders.

Jenny C Taylor
Hilary C Martin
Gilean McVean
Research18 May 2015
Nature Genetics

Volume: 47, P: 717-726

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