Nature Search

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Albena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.

Magdalena Zimoń
Jonathan Baets
Albena Jordanova
Research09 Sept 2012
Nature Genetics

Volume: 44, P: 1080-1083
Combinatorial optimization of gene expression through recombinase-mediated promoter and terminator shuffling in yeast

Fine-tuning the expression of biosynthetic pathway genes is crucial to improve microbial production titres. Here, the authors present GEMbLeR, an optimization strategy to balance the expression of multiple genes simultaneously over a wide range.

Charlotte Cautereels
Jolien Smets
Kevin J. Verstrepen
ResearchOpen Access07 Feb 2024
Nature Communications

Volume: 15, P: 1-17
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebrafish model.

Aleksandra Siekierska
Hannah Stamberger
Peter De Jonghe
ResearchOpen Access12 Feb 2019
Nature Communications

Volume: 10, P: 1-15
Potassium hydride-intercalated graphite as an efficient heterogeneous catalyst for ammonia synthesis

Ammonia is industrially synthesized through an established process based on iron or ruthenium transition metal catalysts, although the quest for alternative and more sustainable processes is still ongoing. Here, the authors show that potassium hydride confined between graphene layers can reduce dinitrogen and catalyse ammonia synthesis under mild conditions.

Fei Chang
Ilker Tezsevin
Petra E. de Jongh
Research17 Mar 2022
Nature Catalysis

Volume: 5, P: 222-230
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

Data filters separate true genetic variants in sequencing data from sequencing errors, but their effectiveness is difficult to assess. Reumers et al. use the genome sequences of monozygotic twins to evaluate the performance of filters individually and in combination, leading to a 290-fold reduction in error rate in calling single-nucleotide variants.

Joke Reumers
Peter De Rijk
Jurgen Del-Favero
Research18 Dec 2011
Nature Biotechnology

Volume: 30, P: 61-68
A Ziegler-type spherical cap model reveals early stage ethylene polymerization growth versus catalyst fragmentation relationships

Ziegler-type polyolefin catalysts have proven to be hard to characterize. Here the authors present a model system consisting of patterned LaOCl spherical caps, simulating bulk particles while facilitating the use of micro(-spectro)scopic characterization techniques specifically aimed at surfaces.

Koen W. Bossers
Laurens D. B. Mandemaker
Bert M. Weckhuysen
ResearchOpen Access24 Aug 2022
Nature Communications

Volume: 13, P: 1-11
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Nirmal Vadgama
Alan Pittman
Jamal Nasir
Research18 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1121-1133
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

Michel Georges and colleagues perform high-throughput resequencing of 63 positional candidate genes identified through genome-wide association studies to search for rare coding variants influencing risk of Crohn's disease. They identify low-frequency coding variants in IL23R that confer protection against inflammatory bowel disease but conclude that rare coding variants in these positional candidates do not make a large contribution to Crohn's disease risk.

Yukihide Momozawa
Myriam Mni
Michel Georges
Research12 Dec 2010
Nature Genetics

Volume: 43, P: 43-47
Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

Alexander Neumann
Fahri Küçükali
Kristel Sleegers
ResearchOpen Access16 Feb 2022
Molecular Psychiatry

Volume: 27, P: 1990-1999
A mobile pathogenicity chromosome in Fusarium oxysporum for infection of multiple cucurbit species

Peter van Dam
Like Fokkens
Martijn Rep
ResearchOpen Access22 Aug 2017
Scientific Reports

Volume: 7, P: 1-15
Lessons learned from gene identification studies in Mendelian epilepsy disorders

Katia Hardies
Sarah Weckhuysen
Arvid Suls
Reviews25 Nov 2015
European Journal of Human Genetics

Volume: 24, P: 961-967
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Daliya Kancheva
Derek Atkinson
Albena Jordanova
Research22 Oct 2015
Genetics in Medicine

Volume: 18, P: 600-607

Search

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Combinatorial optimization of gene expression through recombinase-mediated promoter and terminator shuffling in yeast

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Potassium hydride-intercalated graphite as an efficient heterogeneous catalyst for ammonia synthesis

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

A Ziegler-type spherical cap model reveals early stage ethylene polymerization growth versus catalyst fragmentation relationships

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

A mobile pathogenicity chromosome in Fusarium oxysporum for infection of multiple cucurbit species

Lessons learned from gene identification studies in Mendelian epilepsy disorders

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

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