Nature Search

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

Jun Fang
Jinping Jia
Laufey T. Amundadottir
ResearchOpen Access27 Apr 2017
Nature Communications

Volume: 8, P: 1-17
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

Traci A. Mansfield
David B. Simon
Richard P. Lifton
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 202-205
Greater than the sum of its parts

The performance of electrocatalysts depends on material properties that may differ spatially even within a single particle. Now, a combination of operando microscopy techniques is used to correlate morphology and metal oxidation state with local activity of an oxygen evolution catalyst, which may help to guide future catalyst design.

Marcel Risch
News & Views17 May 2021
Nature Energy

Volume: 6, P: 576-577
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Raymonda Varon
Rebecca Gooding
Luba Kalaydjieva
Research21 Sept 2003
Nature Genetics

Volume: 35, P: 185-189
Crystal-facet-dependent surface transformation dictates the oxygen evolution reaction activity in lanthanum nickelate

The development of active and stable catalysts for water splitting requires understanding of the surface transformations that occur during the reaction. Here, the authors report how the transformations and the activity depend on the exposed crystal facet using spectroscopy and ab initio calculations.

Achim Füngerlings
Marcus Wohlgemuth
Christoph Baeumer
ResearchOpen Access13 Dec 2023
Nature Communications

Volume: 14, P: 1-13
Cooperative Fe sites on transition metal (oxy)hydroxides drive high oxygen evolution activity in base

Fe-based oxyhydroxides are promising catalysts for oxygen evolution reactions. However, the dynamics of Fe sites require further investigation. Here, the authors report Fe oxyhydroxide clusters on nickel or cobalt oxyhydroxides as key active sites for water oxidation and reveal how these clusters are selectively formed under controlled electrochemical conditions.

Yingqing Ou
Liam P. Twight
Shannon W. Boettcher
ResearchOpen Access24 Nov 2023
Nature Communications

Volume: 14, P: 1-12
Double perovskites as a family of highly active catalysts for oxygen evolution in alkaline solution

New catalysts for the oxygen evolution reaction in basic solution are important for energy storage applications. Here, the authors report the high activity and stability of double perovskites in this role, and their performance is attributed to the proximity of the oxygenp-band to the Fermi level.

Alexis Grimaud
Kevin J. May
Yang Shao-Horn
Research17 Sept 2013
Nature Communications

Volume: 4, P: 1-7
The whole-genome landscape of medulloblastoma subtypes

Genomic analysis of 491 medulloblastoma samples, including methylation profiling of 1,256 cases, effectively assigns candidate drivers to most tumours across all molecular subgroups.

Paul A. Northcott
Ivo Buchhalter
Peter Lichter
ResearchOpen Access20 Jul 2017
Nature

Volume: 547, P: 311-317
Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

Focusing on two ill-characterized subtypes of medulloblastoma (group 3 and group 4), this study identifies prevalent genomic structural variants that are restricted to these two subtypes and independently bring together coding regions of GFI1 family proto-oncogenes with active enhancer elements, leading to their mutually exclusive oncogenic activation.

Paul A. Northcott
Catherine Lee
Stefan M. Pfister
Research22 Jun 2014
Nature

Volume: 511, P: 428-434
Active medulloblastoma enhancers reveal subgroup-specific cellular origins

Genomic studies of the paediatric brain tumour medulloblastoma have revealed four clinically distinct molecular subgroups; here active gene regulatory elements in 28 primary medulloblastoma tissues are mapped to reveal differentially regulated enhancers across the different subgroups, allowing insights into the transcription factors that characterize subgroup divergence and the cellular origin of the poorly characterized Group 3 and 4 subgroups.

Charles Y. Lin
Serap Erkek
Paul A. Northcott
Research27 Jan 2016
Nature

Volume: 530, P: 57-62
Reporting activities for the oxygen evolution reaction

The oxygen evolution reaction (OER) is a key enabler of sustainable chemical energy storage. Here, the author assesses the current status of protocols for benchmarking the OER in materials- and device-centered investigations and makes suggestions for more comparable data.

Marcel Risch
Comments & OpinionOpen Access14 Oct 2023
Communications Chemistry

Volume: 6, P: 1-5
A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage

Marcel Osterod
Elisabeth Larsen
Bernd Epe
Research25 Nov 2002
Oncogene

Volume: 21, P: 8232-8239
Recurrent MET fusion genes represent a drug target in pediatric glioblastoma

Whole-genome sequencing identified recurrent fusions involving the MET oncogene, and MET inhibitors suppressed tumor growth in mouse models and in a human patient.

Sebastian Bender
Jan Gronych
David T W Jones
Research17 Oct 2016
Nature Medicine

Volume: 22, P: 1314-1320
Dynamic observation of manganese adatom mobility at perovskite oxide catalyst interfaces with water

Atomic processes on the surface of a catalyst control reaction mechanisms. Here, in-situ imaging of manganese adatom dynamics on La_0.6Sr_0.4MnO₃ and Pr_0.67Ca_0.33MnO₃ surfaces used in the oxygen evolution reaction reveals the importance of partial surface solvation of active metal sites on reaction mechanism.

Gaurav Lole
Vladimir Roddatis
Christian Jooss
ResearchOpen Access24 Sept 2020
Communications Materials

Volume: 1, P: 1-10

Search

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

Greater than the sum of its parts

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Crystal-facet-dependent surface transformation dictates the oxygen evolution reaction activity in lanthanum nickelate

Cooperative Fe sites on transition metal (oxy)hydroxides drive high oxygen evolution activity in base

Double perovskites as a family of highly active catalysts for oxygen evolution in alkaline solution

The whole-genome landscape of medulloblastoma subtypes

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

Active medulloblastoma enhancers reveal subgroup-specific cellular origins

Reporting activities for the oxygen evolution reaction

A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage

Recurrent MET fusion genes represent a drug target in pediatric glioblastoma

Dynamic observation of manganese adatom mobility at perovskite oxide catalyst interfaces with water

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