Nature Search

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (dys)function and create a pathogenicity-severity variant classifier.

Stefan Groeneweg
Ferdy S. van Geest
W. Edward Visser
ResearchOpen Access12 Mar 2025
Nature Communications

Volume: 16, P: 1-21
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

Uirá Souto Melo
Jerome Jatzlau
Malte Spielmann
Amendments and CorrectionsOpen Access09 Oct 2023
Nature Communications

Volume: 14, P: 1
Donor-derived GD2-specific CAR T cells in relapsed or refractory neuroblastoma

In a case series of five children with treatment-refractory neuroblastoma, it was feasible to manufacture and administer donor-derived GD2-specific CAR T cells and clinical responses were seen in four patients.

Concetta Quintarelli
Francesca Del Bufalo
Franco Locatelli
Research15 Jan 2025
Nature Medicine

Volume: 31, P: 849-860
Neutralizing IFNγ improves safety without compromising efficacy of CAR-T cell therapy in B-cell malignancies

B cell malignancies resistant to conventional treatments are potentially sensitive to CAR-T cell immune therapy, but its clinical applicability is limited by immune related adverse effects. Here authors show in a humanized mouse model that blocking IFNγ with the monoclonal antibody emapalumab mitigates the adverse effects of CAR.CD19-T cells without compromising their anti-lymphoma efficacy.

Simona Manni
Francesca Del Bufalo
Concetta Quintarelli
ResearchOpen Access09 Jun 2023
Nature Communications

Volume: 14, P: 1-13
Molecular characterization of SARS-CoV-2 Omicron clade and clinical presentation in children

Rossana Scutari
Valeria Fox
Claudia Alteri
ResearchOpen Access04 Mar 2024
Scientific Reports

Volume: 14, P: 1-11
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID

Leukaemia development has been reported as an associated risk of haematopoietic stem cell gene therapy (HSPC-GT) using retroviral vectors in different diseases. Here, the authors show a case of T-cell acute lymphoid leukaemia in a patient with Adenosine Deaminase-deficient Severe Combined Immunodeficiency (ADA-SCID) treated with retroviral gene therapy.

Daniela Cesana
Maria Pia Cicalese
Alessandro Aiuti
ResearchOpen Access30 Apr 2024
Nature Communications

Volume: 15, P: 1-18
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients

Marco Fabiani
Caterina Micolonghi
Maria Piane
Research31 May 2025
European Journal of Human Genetics

P: 1-12
Effects of coagulation factors on bone cells and consequences of their absence in haemophilia a patients

Giulia Battafarano
Stefano Lancellotti
Raimondo De Cristofaro
ResearchOpen Access23 Oct 2024
Scientific Reports

Volume: 14, P: 1-14
Clinical report and predictors of sequelae of 319 cases of pediatric bacterial osteomyelitis

Andrzej Krzysztofiak
Marco Roversi
Anna Chiara Vittucci
ResearchOpen Access01 Sept 2022
Scientific Reports

Volume: 12, P: 1-10
The invention of writing on Rapa Nui (Easter Island). New radiocarbon dates on the Rongorongo script

Silvia Ferrara
Laura Tassoni
Sahra Talamo
ResearchOpen Access02 Feb 2024
Scientific Reports

Volume: 14, P: 1-9
Complex rotational dynamics of the neutron star in Hercules X-1 revealed by X-ray polarization

IXPE has revealed how the spin of the accreting neutron star Hercules X-1 changes in three dimensions. The spin axis of the star moves both through the star and across the sky, hinting that the crust of the star is asymmetric by almost one part in a million.

Jeremy Heyl
Victor Doroshenko
Silvia Zane
Research18 Jun 2024
Nature Astronomy

Volume: 8, P: 1047-1053
Cygnus X-3 revealed as a Galactic ultraluminous X-ray source by IXPE

The accretion geometry of X-ray binary Cygnus X-3 is determined here from IXPE observations. X-ray polarization reveals a narrow funnel with reflecting walls, which focuses emission, making Cyg X-3 appear as an ultraluminous X-ray source.

Alexandra Veledina
Fabio Muleri
Silvia Zane
Research21 Jun 2024
Nature Astronomy

Volume: 8, P: 1031-1046
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Marco Tartaglia and colleagues report the identification of mutations of SHOC2 in individuals with Noonan-like syndrome with loose anagen hair. The mutations cause aberrantly acquired N-myristoylation of SHOC2 resulting in aberrant targeting of SHOC2 to the plasma membrane. SHOC2 is believed to function as a scaffold linking RAS to downstream signal transducers.

Viviana Cordeddu
Elia Di Schiavi
Marco Tartaglia
Research16 Aug 2009
Nature Genetics

Volume: 41, P: 1022-1026
Discovery of X-ray polarization angle rotation in the jet from blazar Mrk 421

In June 2022, the IXPE satellite observed a shock passing through the jet of active galaxy Markarian 421. The rotation of the X-ray-polarized radiation over a 5-day period revealed that the jet contains a helical magnetic field.

Laura Di Gesu
Herman L. Marshall
Silvia Zane
Research17 Jul 2023
Nature Astronomy

Volume: 7, P: 1245-1258
Author Correction: Type I IFNs promote cancer cell stemness by triggering the epigenetic regulator KDM1B

Martina Musella
Andrea Guarracino
Antonella Sistigu
Amendments and CorrectionsOpen Access17 Sept 2024
Nature Immunology

Volume: 25, P: 2166
X-ray polarization evidence for a 200-year-old flare of Sgr A^*

A study reports the measurement of the polarization degree and angle of X-rays from Sagittarius A^* reflected off a nearby cloud, indicating an X-ray flare about 200 years ago.

Frédéric Marin
Eugene Churazov
Silvia Zane
Research21 Jun 2023
Nature

Volume: 619, P: 41-45
Genomic investigations of unexplained acute hepatitis in children

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Sofia Morfopoulou
Sarah Buddle
Judith Breuer
ResearchOpen Access30 Mar 2023
Nature

Volume: 617, P: 564-573
Simultaneous space and phase resolved X-ray polarimetry of the Crab pulsar and nebula

X-ray polarization measurements of the Crab nebula and pulsar by the IXPE satellite reveal a global toroidal magnetic field with large variations in local polarization, suggesting a more complex turbulence distribution than anticipated.

Niccolò Bucciantini
Riccardo Ferrazzoli
Silvia Zane
Research06 Apr 2023
Nature Astronomy

Volume: 7, P: 602-610
Determination of X-ray pulsar geometry with IXPE polarimetry

X-ray polarimetry observations with the Imaging X-ray Polarimetry Explorer constrain the accretion geometry in an X-ray pulsar and provide evidence for a misalignment of the spin, magnetic and orbital axes in Her X-1.

Victor Doroshenko
Juri Poutanen
Fei Xie
Research24 Oct 2022
Nature Astronomy

Volume: 6, P: 1433-1443
Vela pulsar wind nebula X-rays are polarized to near the synchrotron limit

Polarization can exceed 60% at the leading edge of the inner part of the Vela pulsar wind nebula; in contrast with the case of the supernova remnant, the electrons in the pulsar wind nebula are accelerated with little or no turbulence in a highly uniform magnetic field.

Fei Xie
Alessandro Di Marco
Silvia Zane
Research21 Dec 2022
Nature

Volume: 612, P: 658-660
Polarized blazar X-rays imply particle acceleration in shocks

Polarization measurements are reported for the blazar Mk501, revealing a degree of X-ray polarization that is more than twice the optical value and supporting the shock-accelerated energy-stratified electron population scenario.

Ioannis Liodakis
Alan P. Marscher
Silvia Zane
ResearchOpen Access23 Nov 2022
Nature

Volume: 611, P: 677-681
Type I IFNs promote cancer cell stemness by triggering the epigenetic regulator KDM1B

Type I interferons have been described to have protumor or antitumor functions depending on context. Here the authors show a protumor function for type I interferons in that they promote cancer stem cells by upregulating the chromatin remodeling factor KDM1B.

Martina Musella
Andrea Guarracino
Antonella Sistigu
ResearchOpen Access24 Aug 2022
Nature Immunology

Volume: 23, P: 1379-1392
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti
Rossella Tita
Anna Maria Pinto
ResearchOpen Access17 Jul 2020
European Journal of Human Genetics

Volume: 28, P: 1602-1614
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
Nutritional and lipidomics biomarkers of docosahexaenoic acid-based multivitamin therapy in pediatric NASH

Pierangelo Torquato
Danilo Giusepponi
Francesco Galli
ResearchOpen Access14 Feb 2019
Scientific Reports

Volume: 9, P: 1-14
Adeno-associated virus 2 infection in children with non-A–E hepatitis

A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.

Antonia Ho
Richard Orton
Emma C. Thomson
Research30 Mar 2023
Nature

Volume: 617, P: 555-563
How to manage neonatal tuberculosis

A Di Comite
S Esposito
Elisabetta Scala
Reviews13 Aug 2015
Journal of Perinatology

Volume: 36, P: 80-85
Variants in the WDR44 WD40-repeat ___domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

A vesicle trafficking Rab11 effector switch is important for ciliogenesis. Here, the authors report a ciliopathy-related disorder caused by variants in WDR44, a Rab11 effector. WDR44 variants show higher affinity for Rab11 and can impair ciliogenesis.

Andrea Accogli
Saurabh Shakya
Christopher J. Westlake
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-20
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

Heterotopic ossification is a disorder characterized by the transformation of soft tissue to bone. In this study the authors report heterotopic ossification in a child caused by enhancer hijacking at the ARHGAP36 gene, the ectopic activation by an enhancer that it not its own.

Uirá Souto Melo
Jerome Jatzlau
Malte Spielmann
ResearchOpen Access11 Apr 2023
Nature Communications

Volume: 14, P: 1-13
A restricted spectrum of NRAS mutations causes Noonan syndrome

Martin Zenker, Marco Tartaglia, Reza Ahmadian and colleagues report the identification of a restricted spectrum of NRAS mutations in individuals with Noonan syndrome. Functional testing revealed that the mutations confer enhanced stimulus-dependent MAPK activation.

Ion C Cirstea
Kerstin Kutsche
Martin Zenker
Research06 Dec 2009
Nature Genetics

Volume: 42, P: 27-29
Genomic subtyping and therapeutic targeting of acute erythroleukemia

Analysis of genomic and clinical features of acute erythroid leukemia in comparison to other myeloid disorders supports its distinct classification, defines subgroups and suggests therapeutic vulnerabilities.

Ilaria Iacobucci
Ji Wen
Charles G. Mullighan
Research29 Mar 2019
Nature Genetics

Volume: 51, P: 694-704
AMBRA1 regulates cyclin D to guard S-phase entry and genomic integrity

AMBRA1-mediated degradation of cyclin D through CRL4–DDB1 regulates cell proliferation and prevents replication stress in neurodevelopment and cancer.

Emiliano Maiani
Giacomo Milletti
Francesco Cecconi
Research14 Apr 2021
Nature

Volume: 592, P: 799-803
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca²⁺ transport and AMPAR currents.”

Vincenzo Salpietro
Christine L. Dixon
Henry Houlden
ResearchOpen Access12 Jul 2019
Nature Communications

Volume: 10, P: 1-16
MtDNA-related idiopathic dilated cardiomyopathy

Alessandra Tessa
Laura Vilarinho
Filippo M Santorelli
Correspondence08 Dec 1999
European Journal of Human Genetics

Volume: 7, P: 847-848
Diagnostic accuracy of liver stiffness measurement for the diagnosis of veno-occlusive disease/sinusoidal obstruction syndrome after hematopoietic stem cell transplantation (HSCT), the ELASTOVOD STUDY: an investigator-initiated, prospective, multicentre diagnostic clinical trial

Federico Ravaioli
Antonio Colecchia
Francesca Bonifazi
Research19 Apr 2025
Bone Marrow Transplantation

P: 1-16
ERAP1 promotes Hedgehog-dependent tumorigenesis by controlling USP47-mediated degradation of βTrCP

ERAP1 is an endoplasmic reticulum aminopeptidase that trims MHC Class-I peptides for antigen presentation. Here, the authors show that ERAP1 enhances Hedgehog signalling by sequestering USP47 from βTrCP and promoting tumorigenesis through βTrCP degradation and increased Gli protein stability.

Francesca Bufalieri
Paola Infante
Lucia Di Marcotullio
ResearchOpen Access24 Jul 2019
Nature Communications

Volume: 10, P: 1-15
Neonatal reference values and nomograms of systemic vascular resistances estimated with electrical cardiometry

Valeria Bisceglie
Barbara Loi
Daniele De Luca
Research17 Sept 2024
Journal of Perinatology

Volume: 45, P: 334-341
CRL4^AMBRA1 is a master regulator of D-type cyclins

Biochemical and genetics studies identify CRL4^AMBRA1 as the ubiquitin ligase that has a key role in regulating the stability of D-type cyclins during cell-cycle progression.

Daniele Simoneschi
Gergely Rona
Michele Pagano
Research14 Apr 2021
Nature

Volume: 592, P: 789-793
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
Amendments and Corrections13 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1459-1461
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
Amendments and Corrections25 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1462-1465
Molecular phenomics and metagenomics of hepatic steatosis in non-diabetic obese women

Metabolic activity of specific human gut microorganisms contributes to liver steatosis in obese women.

Lesley Hoyles
José-Manuel Fernández-Real
Marc-Emmanuel Dumas
Research25 Jun 2018
Nature Medicine

Volume: 24, P: 1070-1080
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit
Anna Sarkozy
Bruce D Gelb
Research01 Jul 2007
Nature Genetics

Volume: 39, P: 1007-1012
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
PMN-MDSC are a new target to rescue graft-versus-leukemia activity of NK cells in haplo-HSC transplantation

Nicola Tumino
Francesca Besi
Paola Vacca
ResearchOpen Access04 Oct 2019
Leukemia

Volume: 34, P: 932-937
Validation and cross-cultural adaptation of the Van Lieshout test in an Italian population with cervical spinal cord injury: a psychometric study

Giovanni Galeoto
Anna Berardi
Marco Tofani
Research15 Jun 2018
Spinal Cord Series and Cases

Volume: 4, P: 1-6
Infections by carbapenem-resistant Klebsiella pneumoniae in SCT recipients: a nationwide retrospective survey from Italy

C Girmenia
G M Rossolini
Giuseppe Milone
Research13 Oct 2014
Bone Marrow Transplantation

Volume: 50, P: 282-288
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

David Goldstein, Mohamad Mikati and colleagues report identification of de novo mutations in ATP1A3 in alternating hemiplegia of childhood, which is a rare neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations.

Erin L Heinzen
Kathryn J Swoboda
David B Goldstein
Research29 Jul 2012
Nature Genetics

Volume: 44, P: 1030-1034
Relationship between quality of life and behavioural disorders in children with persistent asthma: a Multiple Indicators Multiple Causes (MIMIC) model

Laura Montalbano
Giuliana Ferrante
A. Volpini
ResearchOpen Access24 Apr 2020
Scientific Reports

Volume: 10, P: 1-9
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Thomas Roux
Mathieu Barbier
Nicholas Wood
Research27 Jul 2020
Genetics in Medicine

Volume: 22, P: 1851-1862
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347

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