Nature Search

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

Yuyang Chen
Ruebena Dawes
Nicola Whiffin
ResearchOpen Access11 Jul 2024
Nature

Volume: 632, P: 832-840
Fast axonal transport is required for growth cone advance

Chris Martenson
Kimberly Stone
Michael Sheetz
Research04 Nov 1993
Nature

Volume: 366, P: 66-69
The differential impact of climate interventions along the political divide in 60 countries

A major barrier to climate mitigation is the political polarization of climate change. Here, the authors examine which of several interventions increase people’s climate policy support and climate action across ideological boundaries.

Michael Berkebile-Weinberg
Danielle Goldwert
Madalina Vlasceanu
ResearchOpen Access08 May 2024
Nature Communications

Volume: 15, P: 1-12
Comprehensive functional characterization of cancer–testis antigens defines obligate participation in multiple hallmarks of cancer

Proteins usually expressed solely in the testes are often found over-expressed in cancer and are termed cancer testis antigens. Here, the authors use a comprehensive screening strategy to identify 26 cancer-testis antigens that promote tumorigenic behaviour.

Kimberly E. Maxfield
Patrick J. Taus
Angelique W. Whitehurst
ResearchOpen Access16 Nov 2015
Nature Communications

Volume: 6, P: 1-15
RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E)

Although clinical trials have shown that RAF inhibitors prolong the survival of patients with BRAF-mutant melanoma, resistance inevitably develops; resistance is shown here to be frequently mediated by the expression of splicing variants of mutant BRAF.

Poulikos I. Poulikakos
Yogindra Persaud
David B. Solit
Research23 Nov 2011
Nature

Volume: 480, P: 387-390
The remnants of galaxy formation from a panoramic survey of the region around M31

In hierarchical cosmological models, galaxies grow in mass through the continual accretion of smaller ones. The tidal disruption of these systems is expected to result in loosely bound and distant stars surrounding the galaxy. A panoramic survey of the Andromeda galaxy (M31) now reveals stars and coherent structures that are almost certainly remnants of dwarf galaxies destroyed by the tidal field of M31.

Alan W. McConnachie
Michael J. Irwin
Kimberly A. Venn
Research03 Sept 2009
Nature

Volume: 461, P: 66-69
Delivering fusion energy needs bold decisions and sustained commitment

The successes of the National Ignition Facility (NIF) and the Joint European Torus (JET) showcase how fusion energy research requires bold decisions, teamwork and strong partnership with funders.

Kimberly S. Budil
Ian T. Chapman
Comments & Opinion18 Jul 2024
Nature Reviews Physics

Volume: 6, P: 466-467
Unpredictability of escape trajectory explains predator evasion ability and microhabitat preference of desert rodents

Biomechanical understanding of animal gait and maneuverability has primarily been limited to species with more predictable, steady-state movement patterns. Here, the authors develop a method to quantify movement predictability, and apply the method to study escape-related movement in several species of desert rodents.

Talia Y. Moore
Kimberly L. Cooper
Ramanarayan Vasudevan
ResearchOpen Access05 Sept 2017
Nature Communications

Volume: 8, P: 1-9
Zika virus evolution and spread in the Americas

One hundred and ten Zika virus genomes from ten countries and territories involved in the Zika virus epidemic reveal rapid expansion of the epidemic within Brazil and multiple introductions to other regions.

Hayden C. Metsky
Christian B. Matranga
Pardis C. Sabeti
Research24 May 2017
Nature

Volume: 546, P: 411-415
Use of term reference infants in assessing the developmental outcome of extremely preterm infants: lessons learned in a multicenter study

Charles E. Green
Jon E. Tyson
Kimberlee Weaver-Lewis
ResearchOpen Access04 Aug 2023
Journal of Perinatology

Volume: 43, P: 1398-1405
Serial time-resolved crystallography of photosystem II using a femtosecond X-ray laser

Femtosecond X-ray pulses were used to obtain diffraction data on photosystem II, revealing conformational changes as the complex transitions from the dark S₁ state to the double-pumped S₃ state; the time-resolved serial femtosecond crystallography technique enables structural determination of protein conformations that are highly prone to traditional radiation damage.

Christopher Kupitz
Shibom Basu
Petra Fromme
Research09 Jul 2014
Nature

Volume: 513, P: 261-265
Response to Hartley et al. and Mullegama et al.

Pranoot Tanpaiboon
Kimberly A Chapman
Research21 Sept 2017
Genetics in Medicine

Volume: 19, P: 1380
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Zejuan Li
Rhonda Schonberg
Daniela del Gaudio
Research26 Mar 2015
Journal of Human Genetics

Volume: 60, P: 363-369
Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Veronique Weinstein
Pranoot Tanpaiboon
Sean Hofherr
ResearchOpen Access25 May 2017
Genetics in Medicine

Volume: 19, P: 1317-1322
Toward interoperable bioscience data

Susanna-Assunta Sansone
Philippe Rocca-Serra
Winston Hide
Comments & OpinionOpen Access27 Jan 2012
Nature Genetics

Volume: 44, P: 121-126
De novo SMARCA2 variants clustered outside the helicase ___domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Gerarda Cappuccio
Camille Sayou
Nicola Brunetti-Pierri
Research22 Jul 2020
Genetics in Medicine

Volume: 22, P: 1838-1850
Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes

Heidi M. Harmon
Erik A. Jensen
Elaine Romano
Research04 Feb 2020
Journal of Perinatology

Volume: 40, P: 616-627

Search

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Fast axonal transport is required for growth cone advance

The differential impact of climate interventions along the political divide in 60 countries

Comprehensive functional characterization of cancer–testis antigens defines obligate participation in multiple hallmarks of cancer

RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E)

The remnants of galaxy formation from a panoramic survey of the region around M31

Delivering fusion energy needs bold decisions and sustained commitment

Unpredictability of escape trajectory explains predator evasion ability and microhabitat preference of desert rodents

Zika virus evolution and spread in the Americas

Use of term reference infants in assessing the developmental outcome of extremely preterm infants: lessons learned in a multicenter study

Serial time-resolved crystallography of photosystem II using a femtosecond X-ray laser

Response to Hartley et al. and Mullegama et al.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Toward interoperable bioscience data

De novo SMARCA2 variants clustered outside the helicase ___domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes

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