Nature Search

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Jacqueline A C Goos
Sigrid M A Swagemakers
Jane A Hurst
ResearchOpen Access26 Jul 2017
European Journal of Human Genetics

Volume: 25, P: 1126-1133
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

Diane Martindale
Abigail Hackam
Michael R. Hayden
Research01 Feb 1998
Nature Genetics

Volume: 18, P: 150-154
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a functional link and can be used to diagnose subjects with unclear clinical presentations.

Erfan Aref-Eshghi
Eric G. Bend
Bekim Sadikovic
ResearchOpen Access20 Nov 2018
Nature Communications

Volume: 9, P: 1-15
CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.

Ersan Kalay
Gökhan Yigit
Bernd Wollnik
Research05 Dec 2010
Nature Genetics

Volume: 43, P: 23-26
Ultrathin 3R-MoS₂ metasurfaces with atomically precise edges for efficient nonlinear nanophotonics

Dielectric metasurfaces with strong nonlinearities hold promise for integrated nanophotonics and quantum technologies, yet their fabrication is hindered by material-dependent challenges and limited material choices with second-order optical nonlinearities. Here, the authors employ top-down lithography and anisotropic wet etching to fabricate atomically precise, ultrathin metasurfaces highly efficient for second-harmonic generation.

George Zograf
Betül Küçüköz
Timur O. Shegai
ResearchOpen Access02 Jul 2025
Communications Physics

Volume: 8, P: 1-12
Synergistic HNO₃–H₂SO₄–NH₃ upper tropospheric particle formation

By performing experiments under upper tropospheric conditions, nitric acid, sulfuric acid and ammonia can form particles synergistically, at rates orders of magnitude faster than any two of the three components.

Mingyi Wang
Mao Xiao
Neil M. Donahue
ResearchOpen Access18 May 2022
Nature

Volume: 605, P: 483-489
Pregnancy-induced maternal microchimerism shapes neurodevelopment and behavior in mice

During pregnancy, maternal cells are transferred to the fetus, where they can reach the developing brain. In this study, the authors demonstrate that these maternal cells play an important role in neurodevelopment.

Steven Schepanski
Mattia Chini
Petra C. Arck
ResearchOpen Access05 Aug 2022
Nature Communications

Volume: 13, P: 1-14
Rapid growth of new atmospheric particles by nitric acid and ammonia condensation

Measurements in the CLOUD chamber at CERN show that the rapid condensation of ammonia and nitric acid vapours could be important for the formation and survival of new particles in wintertime urban conditions, contributing to urban smog.

Mingyi Wang
Weimeng Kong
Neil M. Donahue
ResearchOpen Access13 May 2020
Nature

Volume: 581, P: 184-189
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Eamonn Sheridan, Elizabeth Ross and colleagues report discovery of a new megalencephaly syndrome caused by de novo missense mutations in CCND2. They show that these mutations lead to stabilization of cyclin D2, and they present evidence that cyclin D2 stabilization may be a common downstream mechanism in PI3K-AKT–associated megalencephaly syndromes.

Ghayda M Mirzaa
David A Parry
Eamonn G Sheridan
Research06 Apr 2014
Nature Genetics

Volume: 46, P: 510-515
Elevated seawater temperature causes a microbial shift on crustose coralline algae with implications for the recruitment of coral larvae

Nicole S Webster
Rochelle Soo
Andrew P Negri
Research14 Oct 2010
The ISME Journal

Volume: 5, P: 759-770
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet
Kirsty McWalter
Matias Wagner
ResearchOpen Access11 Nov 2020
Genetics in Medicine

Volume: 23, P: 384-395
A SARS-CoV-2 spike ferritin nanoparticle vaccine protects hamsters against Alpha and Beta virus variant challenge

Kathryn McGuckin Wuertz
Erica K. Barkei
Kayvon Modjarrad
ResearchOpen Access28 Oct 2021
npj Vaccines

Volume: 6, P: 1-11
Therapeutic Implications of Brain–Immune Interactions: Treatment in Translation

Andrew H Miller
Ebrahim Haroon
Jennifer C Felger
Reviews24 Aug 2016
Neuropsychopharmacology

Volume: 42, P: 334-359

Search

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Ultrathin 3R-MoS₂ metasurfaces with atomically precise edges for efficient nonlinear nanophotonics

Synergistic HNO₃–H₂SO₄–NH₃ upper tropospheric particle formation

Pregnancy-induced maternal microchimerism shapes neurodevelopment and behavior in mice

Rapid growth of new atmospheric particles by nitric acid and ammonia condensation

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Elevated seawater temperature causes a microbial shift on crustose coralline algae with implications for the recruitment of coral larvae

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

A SARS-CoV-2 spike ferritin nanoparticle vaccine protects hamsters against Alpha and Beta virus variant challenge

Therapeutic Implications of Brain–Immune Interactions: Treatment in Translation

Search

Quick links

Search

Filter By:

Search

Quick links